Clinical Exomes: Gene List Catalogue (October 2018)

Use of phenotype specific gene lists to target analysis improves diagnostic yield.

Refer below for the comprehensive catalogue (index and detailed list) of pre-curated gene lists available for analysis. The detailed list contains gene names and number of genes included in each gene list.

Custom gene lists for individual patients may also be generated. Genes not listed in the Mendeliome may be included in your patient’s analysis if there is published evidence of the gene’s association with the relevant phenotype in two or more unrelated individuals.

Where VCGS does not already have a pre-curated list for the condition of interest any of the panels from the Genomics England PanelApp(https://panelapp.genomicsengland.co.uk) may be specified (green genes only)

TG-W-024 VCGS Gene List V3 15/10/18

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AAlagille Syndrome Alport SyndromeAlternating hemiplegia including hemiplegic migraine Angelman, Rett like Anophthalmia, microphthalmia, colobomaAortopathy and connective tissue disorderArrhythmia Arrhythmogenic right ventricular cardiomyopathy (ARVC)Arthrogryposis Arthrogryposis X-linked Ataxia/HSP-adultAtaxia -adult and paediatricAtaxia-paediatric Atrial fibrilationAutism

BBardet BiedlBartter syndrome Bleeding disorders BlepharophimosisBone Marrow Failure Brain CMV mimic Brain calcification Branchio-oto-renal syndrome Brugada syndrome

CCardiac abnormalities (congenital) Cardiomyopathy Cataract

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CCatecholaminergic polymorphic ventricular tachycardia (CPVT) Central HypoventilationCerebellar and Pontocerebellar hypoplasia Cerebral Palsy Charcot Marie Tooth Cholestasis Chondrodysplasia punctataChromosome breakage disorders Ciliary dyskinesia heterotaxyCiliopathies Cleft lip Cleft palate Cobblestone malformations Combined immunodeficiency Common variable immunodeficiency Complement deficiencies Congenital diarrhoea Congenital disorders of glycosylation Congenital anomalies of the kidney and urinary tract (CAKUT) - NonsyndromicCongenital anomalies of the kidney and urinary tract (CAKUT) - Syndromic Congenital diaphragmatic hernia Congenital myasthenic syndromeCorneal dystrophy Corpus callosum agenesis, “Callosome” CraniosynostosisCystic kidney disease

DDeafness Defects of innate immunity Dementia Dent diseaseDesmosomal disorders Diamond–Blackfan anemia

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DDilated cardiomyopathy Disorders of immune dysregulation Disorders of Sex Development (DSD)Dystonia

EEctodermal dysplasia Epidermolysis bullosa Epileptic encephalopathy Eye anterior segment abnormalities

FFatty oxidation defects Frontonasal dysplasia

GGlaucoma congenital paediatric

HHereditary angioedema Hereditary spastic paraplegia Hirschsprung disease Holoprosencephaly and septo-optic dysplasia Hydrops fetalisHyper-IgE syndrome Hypercalcemia HyperinsulinismHyperoxaluriaHypertrichosis syndromes Hypertrophic cardiomyopathy Hypomagnesaemia Hypophosphatemic Rickets

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IIchthyosis Immunological disorders IncidentalomeInflammatory bowel disease Intellectual disability- syndromic and nonsyndromic

JJoubert syndrome and other cerebellar malformations

KKabuki syndrome

LLeft ventricular non-compaction LeukodystrophyLissencephaly and band heterotopia Long QT syndrome Lymphedema

MMacrocephaly/MegalencephalyMandibulofacial acrofacial dysostosisMendelian susceptibility to immune disorders Mendeliome (as of October 2018)Microcephaly Mitochondrial-nuclear Mitochondrial-nuclear (AD inheritance) Motor Neuron Disease (MND)Multiple pterygium syndrome Muscular dystrophyMyopathy

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NNephrolithiasis and NephrocalcinosisNephrotic syndromeNeurotransmitter defectNeutrophil defects

OOcular and oculocutaneous albinism OligodontiaOptic atrophy Osteogenesis imperfectaOsteopetrosisOvergrowth

PPaediatric cancer Pancreatitis Parkinson disease Peripheral neuropathy Periventricular grey matter heterotopia PeroxisomalPhagocyte defects Photosensitivity syndromes Pierre Robin sequence Polycystic kidney disease AD Polydactyly Polymicrogyria and SchizencephalyPredominantly antibody deficiency Pulmonary Fibrosis

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RRadial Ray RasopathyRegression Renal tubular dysgenesisRetinal dystrophy Rhabdomyolysis

SSevere combined immunodeficiency (absent T, absent B cells) Severe combined immunodeficiency (absent T, present B cells) Short QT syndrome Short Rib Polydactyly, Jeune asphyxiating thoracic dystrophy Short long bones with advanced carpal bone age Sick sinus syndrome Skeletal dysplasia-fetal Spastic paraplegia-paediatric Spondylocostal dysostosisStickler syndrome and Vitreoretinopathy Storage disorder Susceptibility to fungal infections Susceptibility to viral infections Systemic autoinflammatory disease

TTuberous sclerosis, cortical dysplasia and hemimegalencephalyTubulinopathiesTubulointerstitial kidney disease-AD

VVentricular fibrillation Vitamin C pathway

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AAlagille Syndrome (2 genes)JAG1, NOTCH2

Alport Syndrome (5 genes)CD151, COL4A3, COL4A4, COL4A5, MYH9

Alternating hemiplegia including hemiplegic migraine (11 genes)ATP1A2, ATP1A3, CACNA1A, CACNB4, KCNA1, KCNK18, PNKD, PRRT2, SCN1A, SLC1A3, SLC2A1

Angelman, Rett like (23 genes)ADSL, ASXL3, ATRX, CDKL5, EEF1A2, EHMT1, FOXG1, HERC2, IQSEC2, KANSL1, KCNA2, MBD5, MECP2, MEF2C, SATB2, SHANK3, SLC9A6, STXBP1, SYT1, TCF4, UBE3A, UBTF, ZEB2

Anophthalmia, microphthalmia, coloboma (44 genes)ALDH1A3, ASXL1, BCOR, BMP4, CHD7, COL4A1, FOXE3, GJA1, GJA8, HCCS, HESX1, IKBKG, MAB21L2, MFRP, MITF, NAA10, NDP, NHS, OCRL, OTX2, PAX2, PAX6, PITX3, POMT1, PRSS56, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RARB, RAX, RERE, SHH, SIX3, SIX6, SMCHD1, SMOC1, SOX2, STRA6, TBC1D20, TENM1, TFAP2A, VAX1, VSX2

Aortopathy and connective tissue disorder (24 genes)ABL1, ACTA2, BGN, C1R, C1S, CBS, COL1A1, COL3A1, COL5A1, FBN1, FBN2, FLNA, LOX, MED12, MYH11, MYLK, PRKG1, SKI, SLC2A10, SMAD3, TGFB2, TGFB3, TGFBR1, TGFBR2

Arrhythmia (33 genes)AKAP9, ANK2, CACNA1C, CACNA2D1, CACNB2, CALM1, CALM2, CALM3, CASQ2, CAV3, GJA5, GPD1L, HCN4, KCNA5, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, NPPA, RYR2, SCN10A, SCN1B, SCN3B, SCN4B, SCN5A, SNTA1, TRDN

Arrhythmogenic right ventricular cardiomyopathy (ARVC) (8 genes)DSC2, DSG2, DSP, JUP, PKP2, RYR2, TGFB3, TMEM43

GENE LIST

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AArthrogryposis (120 genes)ACTA1, ADAMTS10, ANTXR2, ASXL1, B3GALNT2, B3GNT1, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, CHST14, CNTNAP1, COL12A1, COL6A1, COL6A2, COL6A3, COLQ, CRLF1, DAG1, DNM2, DOK7, DPM2, ECEL1, ERBB3, ERCC6, ERCC8, EXOSC3, FAM20C, FBN2, FGFR2, FGFR3, FKBP10, FKRP, FKTN, FLNB, GBA, GBE1, GLDN, GLE1, GMPPB, GPR126, GTDC2, HSPG2, IRF6, ISPD, KAT6B, KIAA1109, KLHL40, KLHL41, KLHL7, LAMA2, LARGE, LGI4, LMOD3, MTM1, MUSK, MYBPC1, MYH2, MYH3, MYH7, MYH8, NALCN, NEB, ORAI1, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PIEZO2, PIP5K1C, PLOD1, PLOD2, POMGNT1, POMT1, POMT2, POR, PRG4, RAPSN, RIPK4, RYR1, SCARF2, SEPN1, SGK196, SKI, SLC5A7, SMAD3, SMAD4, STIM1, TGFB2, TGFB3, TGFBR1, TGFBR2, TMEM5, TNNI2, TNNT1, TNNT3, TPM2, TPM3, TRIP4, TRPV4, TSEN54, UBA1, UNC80, VIPAS39, VPS33B, ZC4H2, ZMPSTE24

Arthrogryposis X-linked (21 genes)AP1S2, ARX, ATRX, CASK, DCX, EBP, EIF2S3, FGD1, FHL1, FLNA, GPC3, L1CAM, MED12, MTM1, OFD1, RBM10, SLC9A6, TBX22, UBA1, ZC4H2, ZIC3

Ataxia/HSP-adult (156 genes)ABCB7, ABCD1, ACOX1, ADCK3, AFG3L2, AHI1, ALDH5A1, ANO10, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APTX, ARL13B, ATL1, ATM, ATP8A2, B4GALNT1, BSCL2, C10orf2, C12orf65, C5orf42, CA8, CACNA1A, CACNA1G, CACNB4, CAMTA1, CC2D2A, CCDC28B, CCDC88C, CCT5, CEP290, CEP41, CLCN2, CLN5, CLPP, COX20, CSTB, CWF19L1, CYP27A1, CYP2U1, CYP7B1, DDHD1, DDHD2, DNAJC19, DNMT1, EEF2, ELOVL4, ELOVL5, ERLIN2, FA2H, FBXL4, FBXO7, FGF14, FLVCR1, FXN, GAD1, GAN, GBA2, GFAP, GJC2, GRID2, GRM1, GSS, HARS2, HSPD1, INPP5E, ITM2B, ITPR1, KCNA1, KCNC3, KCND3, KDM5C, KIAA0196, KIAA0226, KIF1A, KIF1C, KIF5A, KIF7, L1CAM, LARS2, MARS2, MKKS, MKS1, MRE11A, MTPAP, MTTP, NIPA1, NOL3, NPHP1, OFD1, OPA1, OPA3, PAX6, PDYN, PLP1, PMPCA, PNKD, PNKP, PNPLA6, POLG, PRKCG, PRRT2, PSEN1, REEP1, RPGRIP1L, RTN2, SACS, SETX, SIL1, SLC16A2, SLC19A3, SLC1A3, SLC2A1, SLC33A1, SLC52A2, SNX14, SPAST, SPG11, SPG20, SPG21, SPG7, SPTBN2, STUB1, STXBP1, SYNE1, SYT14, TCTN1, TCTN2, TCTN3, TDP1, TECPR2, TFG, TGM6, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TPP1, TRIM32, TTBK2, TTC8, TTPA, TTR, TUBB4A, VAMP1, VLDLR, VPS37A, WDPCP, WDR81, WWOX, ZFYVE26, ZNF423

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AAtaxia-adult and paediatric (173 genes)AAAS, ABCB7, ABHD12, ACBD5, ADCK3, AFG3L2, AHI1, ALDH5A1, AMPD2, ANO10, AP1S2, APTX, ARL13B, ARL6, ARSA, ATCAY, ATM, ATP1A3, ATP8A2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BEAN1, C10orf2, C5orf42, CA8, CACNA1A, CACNA1G, CACNB4, CAMTA1, CASK, CC2D2A, CCDC28B, CCDC88C, CEP290, CEP41, CHMP1A, CLCN2, CLN5, CLN6, CLPP, COQ5, COX20, CP, CSTB, CWF19L1, CYP27A1, CYP2U1, DARS2, DDHD2, DNAJC19, DNAJC5, DNMT1, DOCK3, EBF3, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EPM2A, EXOSC3, FBXL4, FDXR, FGF14, FLVCR1, FMR1, FOLR1, FXN, GBA2, GFAP, GJC2, GOSR2, GRID2, GRM1, GSS, HARS2, HEXA, HEXB, INPP5E, ITM2B,ITPR1, KCNA1, KCNC3, KCND3, KCNJ10, KIAA0226, KIF1C, KIF7, LARS2, MARS2, MKKS, MKS1, MMACHC, MRE11A, MSTO1, MTPAP, MTTP, NHLRC1, NKX6-2, NOL3, NOP56, NPC1, NPHP1, OFD1, OPA1, OPA3, PAX6, PDYN, PEX16, PMPCA, PNKD, PNKP, POLG, POLR3A, PRICKLE1, PRKCG, PRNP, PRRT2, RARS2, RNF170, RNF216, RPGRIP1L, SACS, SAR1B, SCN8A, SEPSECS, SETX, SIL1, SLC1A3, SLC2A1, SLC52A2, SLC9A6, SNX14, SPG7, SPTBN2, STUB1, SYNE1, SYT14, TCTN1, TCTN2, TCTN3, TDP1, TGM6, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TPP1, TRIM32, TTBK2, TTC8, TTPA, TUBB4A, VAMP1, VLDLR, VRK1, WDPCP, WDR73, WDR81, WFS1, WWOX, ZNF423

Ataxia-paediatric onset (99 genes)AAAS, ABCB7, ABHD12, ACBD5, ADCK3, AFG3L2, AMPD2, ANO10, AP1S2, APTX, ARSA, ATM, ATP1A3, C10orf2, CA8, CACNA1A, CACNA1G, CAMTA1, CASK, CHMP1A, CLN6, COQ5, COX20, CWF19L1, CYP27A1, CYP2U1, DARS2, DOCK3, EBF3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EXOSC3, FDXR, FGF14, FLVCR1, FOLR1, FXN, GBA2, GOSR2, GRID2, GRM1, HEXA, HEXB, ITPR1, KCNA1, KCNC3, KCNJ10, KIF1C, MARS2, MMACHC, MRE11A, MSTO1, NKX6-2, NPC1, NPC2, OPHN1, PAX6, PCLO, PEX16, PLA2G6, PMPCA, PNKP, PNPLA6, POLG, PRICKLE1, PRRT2, RARS2, RNF216, SACS, SCN8A, SEPSECS, SETX, SIL1, SLC1A3, SLC2A1, SLC9A6, SNX14, SPTBN2, SRD5A3, STUB1, SYNE1, TMEM240, TPP1, TSEN2, TSEN34, TSEN54, TTC19, TTPA, TUBB4A, UCHL1, VLDLR, VRK1, WDR73, WDR81, WFS1, WWOX

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AAtrial fibrilation (4 genes)GJA5, KCNA5, KCNE1L, NPPA

Autism ADNP, ADSL, AHDC1, AHI1, ALDH5A1, ALG6, ANK2, ANKRD11, ARID1B, ARX, ASH1L, ASXL3, BCKDK, BCL11A, BRAF, C12orf57, CACNA1C, CACNA1H, CACNA2D3, CDKL5, CHD2, CHD7, CHD8, CHKB, CNKSR2, CNOT3, CNTN4, CNTNAP2, CTNND2, CUL3, DDX3X, DEAF1, DHCR7, DMD, DSCAM, DYRK1A, EHMT1, EP300, FMR1, FOXP1, GATM, GIGYF2, GRIN2B, GRIP1, HCN1, HDAC4, HEPACAM, HERC2, HOXA1, ILF2, INTS6, IQSEC2, KAT6A, KATNAL2, KDM5B, KMT2A, KMT2C, MADD, MAGEL2, MBD5, MBOAT7, MECP2, MED13L, MEF2C, MET, NAA15, NACC1, NCKAP1, NF1, NFIX, NIPBL, NLGN3, NR2F1, NRXN1, NSD1, NTNG1, OCRL, PACS1, PAX6, PCCA, PCCB, PCDH19, PIK3R2, POGZ, PPP2R5D, PRODH, PTCHD1, PTEN, PTPN11, RAI1, RANBP17, RELN, RERE, RIMS1, RNF135, RPS6KA3, SATB2, SCN1A, SCN2A, SCN9A, SETD1B, SETD5, SGSH, SHANK2, SHANK3, SIN3A, SLC6A1, SLC9A6, SMARCA2, SNX14, SOX5, SPAST, STAG1, STXBP1, SUV420H1, SYNE1, SYNGAP1, TAF1, TBR1, TCF4, TNRC6B, TRIP12, TSC1, TSC2, UBE3A, UNC13A, UPF3B, USP7, VPS13B, WAC, WDFY3, ZBTB20

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BBardet Biedl (19 genes)ALMS1, ARL6, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, CEP290, IFT172, LZTFL1, MKKS, MKS1, SDCCAG8, TRIM32, TTC8, WDPCP

Bartter syndrome (9 genes)BSND, CASR, CLCNKA, CLCNKB, GNA11, KCNJ1, MAGED2, SLC12A1, SLC12A3

Bleeding disorders (59 genes)ACTA2, ANO6, AP3B1, BLOC1S3, CBS, COL3A1, COL5A1, COL5A2, DTNBP1, F10, F11, F13A1, F13B, F2, F5, F7, F8, F9, FBN1, FBN2, FGA, FGB, FGG, FLNA, FOXE3, GP1BA, GP1BB, GP6, GP9, HPS1, HPS3, HPS4, HPS5, HPS6, ITGA2B, ITGB3, LMAN1, LOX, MAT2A, MCFD2, MED12, MFAP5, MYH11, MYLK, NOTCH1, P2RY12, PRKG1, SERPINE1, SERPINF2, SKI, SLC2A10, SMAD3, SMAD4, TBXA2R, TGFB2, TGFB3, TGFBR1, TGFBR2, VWF

Blepharophimosis (14 genes)FOXL2, HSPG2, HUWE1, KANSL1, KAT6B, MASP1, MED12, MYH3, PIEZO2, POGZ, RERE, SCARF2, TLK2, UBE3B

Bone Marrow Failure (79 genes)ABCB7, ACD, AK2, ALAS2, ANKRD26, BRCA2, BRIP1, CDAN1, CECR1, CTC1, CXCR4, DKC1, EFTUD1, ELANE, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FECH, G6PC3, GATA1, GATA2, GFI1, GLRX5, GP1BA, HAX1, HOXA11, KLF1, LIG4, MASTL, MPL, MYH9, NBEAL2, NHP2, NOP10, PALB2, PARN, PUS1, RAD51C, RBM8A, RMRP, RPL11, RPL27, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS27, RPS29, RPS7, RTEL1, RUNX1, SBDS, SEC23B, SLC19A2, SLC25A38, SLC37A4, SLX4, SMARCAL1, SRP54, SRP72, TAZ, TERC, TERT, TINF2, TSR2, USB1, WAS, WRAP53, XRCC2

Brain CMV mimic (10 genes)ADAR, IFIH1, OCLN, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, SAMHD1, TREX1

Brain calcification (19 genes)ADAR, COL4A1, CTC1, ERCC6, ERCC8, IFIH1, JAM3, OCLN, PDGFB, PDGFRB, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SLC20A2, TREX1, TSC1, TSC2, XPR1

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BBranchio-oto-renal syndrome (3 genes)EYA1, SIX1, SIX5

Brugada syndrome (11 genes)CACNA1C, CACNA2D1, CACNB2, GPD1L, KCND3, KCNE3, KCNJ8, SCN10A, SCN1B, SCN3B, SCN5A

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CCardiac abnormalities (congenital) (25 genes)FLT4, GATA4, GATA5, GATA6, GDF1, HAND1, HAND2, IRX4, JAG1, MEF2C, MYH6, MYOCD, NKX2-5, NONO, NR2F2, PLD1, PRKD1, ROBO1, SALL4, TBX1, TBX20, TBX3, TBX5, TFAP2B, ZIC3

Cardiomyopathy (55 genes)ACTC1, ACTN2, ALPK3, ANKRD1, BAG3, C1QBP, CALR3, CAV3, CRYAB, CSRP3, DES, DMD, DSC2, DSG2, DSP, DTNA, FXN, GAA, GLA, ILK, JPH2, JUP, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, NEXN, PKP2, PLN, PRKAG2, PTPN11, RAF1, RBM20, RYR2, SCN5A, SLC25A4, TAZ, TCAP, TGFB3, TMEM43, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL

Cataract (143 genes)ADA, ADAM17, ADAMTS10, AGK, AGPS, AICDA, ALDH18A1, B3GALTL, BCOR, BFSP1, BFSP2, BTK, CD3G, CD40LG, CHMP4B, COL11A1, COL18A1, COL2A1, COL4A1, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGC, CRYGD, CRYGS, CTDP1, CYBA, CYBB, CYP27A1, CYP51A1, DCLRE1C, DHCR7, DOCK8, EPCAM, EPHA2, ERCC2, ERCC3, ERCC6, ERCC8, FAM126A, FBN1, FKRP, FKTN, FOXE3, FOXP3, FTL, FYCO1, GALK1, GALT, GCNT2, GJA1, GJA3, GJA8, GNPAT, GUCY2C, HMX1, HPS1, HPS4, HPS6, HSF4, ICOS, IKBKG, IL10, IL10RA, IL10RB, IL2RG, INPP5K, INTS1, ITGB2, ITPA, JAM3, LARGE, LEPREL1, LIG4, LIM2, LMX1B, LRBA, MAF, MAN2B1, MIP, MIR184, MYH9, NACC1, NCF1, NCF2, NCF4, NDP, NF2, NHS, NUP188, OCRL, OPA3, PAX6, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIK3R1, PISD, PITX3, PLCG2, POLG, POMT1, POMT2, PXDN, RAB18, RAB3GAP1, RAB3GAP2, RAG2, RET, SC5D, SH2D1A, SIL1, SKIV2L, SLC16A12, SLC2A1, SLC33A1, SLC37A4, SRD5A3, STXBP2, TDRD7, TFAP2A, TTC37, VIM, VSX2, WAS, WRN, XIAP, ZAP70

Catecholaminergic polymorphic ventricular tachycardia (CPVT) CALM1, CALM2, CALM3, CASQ2, KCNJ2, RYR2, TRDN

Central hypoventilation (6 genes)ASCL1, BDNF, EDN3, GDNF, PHOX2B, RET

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CCerebellar and Pontocerebellar hypoplasia (46 genes)AMPD2, AUTS2, BCL11A, BRF1, CASK, CEP55, CHMP1A, CLP1, DDX3X, EXOSC3, EXOSC8, FOXP1, FZD3, GPAA1, INTS8, ITPR1, KAT5, KCNC3, KIAA1109, OPHN1, PCLO, PPP1CB, PUS3, RAB11B, RARS2, RELN, SEPSECS, SETD2, SLC25A46, SPTBN2, TBC1D23, TBCK, TOE1, TRAPPC6B, TSEN15, TSEN2, TSEN34, TSEN54, TUBA1A, TUBA8, TUBB2B, TUBB3, VLDLR, VPS53, VRK1, WDR91

Cerebral Palsy (14 genes)AP4B1, AP4E1, AP4M1, AP4S1, GAD1, KANK1, KDM5C, L1CAM, NKX2-1, PAK3, SCN8A, TENM1, TUBA1A, ZC4H2

Charcot Marie Tooth (87 genes)AARS, AIFM1, ATAD3A, ATL1, ATL3, ATP7A, BICD2, BSCL2, CCT5, COX6A1, CTDP1, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FAM134B, FBLN5, FBXO38, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HADHB, HARS, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF5A, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MME, MORC2, MPZ, MTMR2, MYH14, NDRG1, NEFL, NGF, NTRK1, OPA1, PDK3, PLA2G6, PLEKHG5, PMP22, PRDM12, PRNP, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN11A, SCN9A, SETX, SH3TC2, SLC12A6, SLC25A46, SLC5A7, SOX10, SPG11, SPTLC1, SPTLC2, TFG, TRIM2, TRPV4, VCP, VRK1, WNK1, YARS

Cholestasis (77 genes) ABCB11, ABCB4, ABCC2, ABCG5, ABCG8, ADK, AKR1D1, ALDOB, AMACR, ARG1, ATP7B, ATP8B1, BAAT, CC2D2A, CFTR, CLDN1, COG7, CYP27A1, CYP7B1, DCDC2, DGUOK, DHCR7, FAH, GALT, GBA, GBE1, HADHA, HAMP, HFE, HFE2, HNF1B, HSD3B7, IARS, INVS, JAG1, LIPA, MKS1, MPI, MPV17, MVK, NOTCH2, NPC1, NPC2, NPHP1, NPHP3, NPHP4, NR1H4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PKHD1, POLG, SERPINA1, SLC25A13, SLC27A5, SLC30A10, SLC40A1, SMPD1, TALDO1, TFR2, TJP2, TMEM216, TRMU, UGT1A1, VIPAS39, VPS33B

Chondrodysplasia punctata (5 genes)AGPS, ARSE, EBP, GNPAT, PEX7

Chromosome breakage disorders (45 genes)ADAR, ATM, BLM, BRCA2, BRIP1, DDB2, DDX11, DHCR7, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, GTF2E2, GTF2H5, LIG4, MPLKIP, MRE11A, NBN, NHEJ1, PALB2, POLH, RAD50, RAD51, RAD51C, RECQL4, RMI2, SLX4, TYR, UBE2T, XPA, XPC, XRCC4

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CCiliary dyskinesia heterotaxy (38 genes)ARMC4, C21orf59, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40, CCDC65, CCNO, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAJB13, DNAL1, DRC1, DYX1C1, GAS8, HEATR2, HYDIN, LRRC6, MCIDAS, MMP21, NME8, PIH1D3, PKD1L1, RPGR, RSPH1, RSPH3, RSPH4A, RSPH9, SPAG1, STK36, TTC25, ZMYND10

Ciliopathies (142 genes)ACVR2B, AHI1, ALMS1, ANKS6, ARL13B, ARL6, ARMC4, ARMC8, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, C21orf2, C21orf59, C2CD3, C5orf42, CC2D2A, CCDC103, CCDC11, CCDC114, CCDC151, CCDC28B, CCDC39, CCDC40, CCDC41, CCDC65, CCNO, CENPF, CEP104, CEP120, CEP164, CEP290, CEP41, CEP55, CFC1, CRB2, CRELD1, CSPP1, DCDC2, DDX59, DNAAF1, DNAAF2, DNAAF3, DNAH11, DNAH5, DNAI1, DNAI2, DNAL1, DRC1, DYNC2H1, DYNC2LI1, DYX1C1, EVC, EVC2, EXOC3L2, GAS8, GDF1, GLI3, GLIS2, HEATR2, HNF1B, HYDIN, HYLS1, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, INPP5E, INVS, IQCB1, KIAA0586, KIAA0753, KIF7, LBR, LRRC6, LZTFL1, MAPKBP1, MCIDAS, MKKS, MKS1, MUC1, NEK1, NEK8, NME8, NODAL, NPHP1, NPHP3, NPHP4, OFD1, PDE6D, PKD1, PKD2, PKHD1, POC1B, PRKCSH, RPGR, RPGRIP1L, RSPH1, RSPH4A, RSPH9, SBDS, SCLT1, SDCCAG8, SEC63, SPAG1, SUFU, TAPT1, TBC1D32, TCTEX1D2, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TRAF3IP1, TRIM32, TTC21B, TTC8, TXNDC15, UMOD, WDPCP, WDR19, WDR34, WDR35, WDR60, XPNPEP3, ZIC3, ZMYND10, ZNF423

Cleft lip (9 genes)BMP4, GRHL3, MSX1, PHF8, PVRL1, RSPO2, TFAP2A, TFAP2B, TP63

Cleft palate (42 genes)ACBD5, AMER1, ARHGAP29, BMP2, CHD1, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, CTNND1, EDN1, EDNRA, EIF4A3, EPT1, FOXC2, FOXE1, GNAI3, HOXA2, INTS1, IRF6, KCNJ2, MED13L, MEIS2, NEDD4L, PGM1, PLCB4, RBM10, RPL11, RPL5, RPS26, RPS28, SATB2, SNRPB, SOX9, TBX1, TBX22, TGDS, TMCO1, TSR2, TXNL4A

Cobblestone malformations (10 genes)COL3A1, FKRP, FKTN, GTDC2, LARGE, POMGNT1, POMT1, POMT2, TMEM5, TMTC3

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CCombined immunodeficiency (87 genes)ADA, AK2, ATM, B2M, BCL10, BLM, CARD11, CCBE1, CD27, CD3G, CD40LG, CD8A, CHD7, CIITA, CTPS1, DCLRE1B, DCLRE1C, DKC1, DNMT3B, DOCK2, DOCK8, EPG5, FOXN1, ICOS, IKBKB, IKBKG, IKZF1, IL21, IL21R, IL2RG, IL7R, ITK, LCK, LIG4, LRBA, MAGT1, MALT1, MAP3K14, MCM4, MTHFD1, NFKB1, NFKB2, NFKBIA, NFKBID, NHP2, NOP10, ORAI1, PARN, PGM3, PNP, POLE, RAC2, RAG1, RAG2, RBCK1, RFX5, RFXANK, RFXAP, RHOH, RMRP, RNF168, RNF31, RTEL1, SEMA3E, SLC46A1, SMARCAL1, SP110, SPINK5, STAT3, STAT5B, STIM1, STK4, TAP1, TAP2, TAPBP, TBX1, TCN2, TERC, TERT, TINF2, TNFRSF4, TPP1, TTC7A, WAS, WIPF1, ZAP70, ZBTB24

Common variable immunodeficiency (22 genes)CD19, CD27, CD81, CR2, CTLA4, CXCR4, ICOS, ICOSLG, IKZF1, MAP3K14, MS4A1, NFKB1, NFKB2, NFKBID, PIK3CD, PRKCD, TCF3, TNFRSF13B, TNFRSF13C, TNFSF12, TRNT1, TTC37

Complement deficiencies (33 genes)C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4A, C4B, C5, C6, C7, C8A, C8B, C8G, C9, CD46, CD59, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, FCN3, ITGAM, MASP2, SERPING1, THBD

Congenital diarrhoea (28 genes)ABAT, AIRE, APOB, CFTR, DGAT1, EPCAM, FOXP3, GUCY2C, LCT, MTTP, MYO5B, NEUROG3, PCSK1, PRSS1, SAR1B, SBDS, SI, SKIV2L, SLC10A2, SLC26A3, SLC2A2, SLC39A4, SLC5A1, SLC7A7, SLC9A3, SPINT2, TMPRSS15, TTC37

Congenital disorders of glycosylation (98 genes)ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9,

ATP6V0A2, B3GALNT2, B3GALT6, B3GAT3, B4GALNT1, B4GALT1, B4GALT7, CHST14, CHST3, CHST6, CHST8, CHSY1, COG1, COG2, COG4, COG5, COG6, COG7, COG8, DDOST, DHDDS, DOLK, DPAGT1, DPM1, DPM2, DPM3, DSE, EOGT, EXT1, EXT2, FKRP, FKTN, G6PC3, GALNT3, GFPT1, GMPPA, GMPPB, GNE, GTDC2, ISPD, LARGE, LFNG, MAN1B1, MGAT2, MOGS, MPDU1, MPI, NGLY1, NUS1, PAPSS2, PGAP2, PGAP3, PGM1, PGM3, PIGA, PIGL, PIGM, PIGN, PIGO, PIGT, PIGV, PIGW, PMM2, POFUT1, POGLUT1, POMGNT1, POMT1, POMT2, RFT1, SEC23A, SEC23B, SGK196, SLC26A2, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SRD5A3, ST3GAL3, ST3GAL5, STT3A, STT3B, TMEM165, TMEM5, TRIP11, TUSC3, XYLT1

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CCongenital anomalies of the kidney and urinary tract (CAKUT): Nonsyndromic (30 genes)BICC1, CDX2, CHD1L, DSTYK, FGF8, FGFR1, GATA3, GREB1L, HNF1B, HOXA4, HOXB6, HPSE2, ITGA8, LIFR, LRIG2, NPHP3, PAX2, RET, ROBO2, SIX2, SLIT2, SOX17, SRGAP1, TBC1D1, TBX18, TNXB, TRAP1, UMOD, UPK3A, WNT4

Congenital anomalies of the kidney and urinary tract (CAKUT): Syndromic (32 genes)BMP4, CHD7, DHCR7, EYA1, EZH2, FAM58A, FGF10, FGFR2, FOXC1, FOXC2, FRAS1, FREM1, FREM2, GLI3, GPC3, GRIP1, HOXA13, JAG1, KAL1, KDM6A, KMT2D, LRP4, NIPBL, NOTCH2, PBX1, ROR2, SALL1, SALL4, SEMA3A, SIX1, SIX5, TFAP2A

Congenital diaphragmatic hernia (CDH) (19 genes)CDKN1C, CHD7, DLL3, EFNB1, GPC3, HCCS, HDAC8, KDM6A, KMT2D, LRP2, NIPBL, NSD1, OFD1, PORCN, RAD21, SMC1A, SMC3, STRA6, WT1

Congenital myasthenic syndrome (24 genes)AGRN, ALG2, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE, CHRNG, COL13A1, COLQ, DOK7, DPAGT1, GFPT1, GMPPB, LRP4, MUSK, MYO9A, PLEC, PREPL, RAPSN, SCN4A, SLC18A3, SLC5A7, SYT2

Corneal dystrophy (22 genes)CHST6, COL17A1, COL8A2, CYP4V2, DCN, FOXE3, GSN, KRT12, KRT3, MAF, OVOL2, PIKFYVE, PITX2, PRDM5, SLC4A11, TACSTD2, TCF4, TGFBI, UBIAD1, VSX1, ZEB1, ZNF469

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CCorpus callosum agenesis, “Callosome” (401 genes)AARS2, ABAT, ACADS, ACTB, ACTG1, AHI1, AIFM1, AKT3, ALG6, ALX3, ALX4, AMER1, AMPD2, AMT, ANK2, AP4B1, AP4M1, APP, ARFGEF2, ARHGAP31, ARID1A, ARID1B, ARMC1, ARX, ASPM, ASXL1, ASXL3, ATP6V0A2, ATP7A, ATPAF2, ATR, ATRX, ATXN10, B3GALNT2, B3GALTL, B3GNT1, BCOR, BCS1L, BMP4, BRAF, BUB1B, C12orf57, C12orf65, C2CD3, C5orf42, C6orf70, CASC5, CASK, CCND2, CD96, CDK5, CDK5RAP2, CDON, CENPF, CENPJ, CEP135, CEP152, CEP63, CHD7, CHMP1A, CHSY1, COX15, CPT2, CREB1, CREBBP, CTNNB1, CUL4B, CWF19L1, CYP11A1, DAB1, DCC, DCHS1, DCX, DDC, DHCR24, DHCR7, DIS3L2, DISC1, DLAT, DLD, DOCK6, DPYD, DSCAM, DUSP6, DYNC1H1, EARS2, EBP, EFNB1, EFTUD2, EMX2, EOMES, EP300, EPG5, EPHB2, ERBB2, ERCC1, ERCC2, ERCC5, ERCC6, ERLIN2, ETFA, ETFB, ETFDH, ETHE1, EXOSC3, FA2H, FARS2, FAT4, FGF17, FGF8, FGFR1, FGFR2, FGFR3, FH, FIG4, FKRP, FKTN, FLNA, FLRT3, FLVCR2, FOXC1, FOXG1, FOXN1, FOXRED1, FRAS1, FREM2, GALC, GAS1, GCDH, GCSH, GFM1, GHRHR, GLDC, GLI2, GLI3, GLUL, GMPPB, GNRH1, GPC3, GPR56, GPSM2, GTDC2, HCCS, HCFC1, HEPACAM, HESX1, HIBCH, HRAS, HS6ST1, HSD17B4, HYLS1, ICK, IGBP1, IGF1, IL17RD, INPP5E, ISPD, KAL1, KAT6B, KCNT1, KIAA0196, KIAA0586, KIAA1279, KIF11, KIF14, KIF27, KIF2A, KIF5C, KIF7, KISS1, KISS1R, KRAS, L1CAM, L2HGDH, LAMB1, LAMC1, LAMC3, LARGE, LHX3, LHX4, LRP2, LZTR1, MAP2K1, MAP2K2, MBTPS2, MCPH1, MED12, MEF2C, MID1, MLC1, MLH1, MMACHC, MRPS16, MRPS22, MSH2, MSH6, MTFMT, MTOR, MYCN, NAA10, NBN, NDE1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEXN, NF1, NFIA, NFIX, NHEJ1, NIN, NR2E1, NR2F1, NRAS, NSD1, NSMF, NUBPL, OCLN, OFD1, OTX2, PAFAH1B1, PAX6, PC, PCCA, PCCB, PCNT, PDHA1, PDHB, PDHX, PDP1, PDYN, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PIEZO2, PIGA, PIK3CA, PIK3R2, PITX1, PITX2, PMS2, PNKP, PNPT1, POLR3A, POLR3B, POMGNT1, POMT1, POMT2, PORCN, POU1F1, PPP2R5D, PRICKLE1, PROK2, PROKR2, PROP1, PRRX1, PSAP, PTCH1, PTEN, PTPN11, PYCR1, RAB18, RAB3GAP1, RAB3GAP2, RAC1, RAD51, RAF1, RARS2, RBBP8, RBM10, RBPJ, RELN, RIT1, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNU4ATAC, ROBO2, ROBO3, RPS6KA3, RTTN, SAMHD1, SATB2, SCLT1, SCO2, SDHA, SEMA3A, SEPSECS, SETBP1, SF3B4, SGK196, SHH, SIX3, SKI, SLC12A6, SLC1A4, SLC25A1, SLC25A19, SLC25A22, SLIT2, SMARCA4, SMARCB1, SMG9, SMO, SNAP29, SNIP1, SNX10, SOS1, SOS2, SOX2, SOX3, SPECC1L, SPG11, SPRY4, SPTAN1, STIL, STRA6, STXBP1, SUOX, SURF1, SZT2, TAC3, TACR3, TBC1D20, TBC1D32, TBR1, TBX22, TCF4, TGIF1, THOC6, TMEM5, TRAPPC6B, TRAPPC9, TREX1, TRIO, TSEN2, TSEN34, TSEN54, TSFM, TTC19, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP4, TUBGCP6, TUFM, TWIST1, UPF3B, UQCRB, UQCRQ, VAX1, VLDLR, VRK1, WDR11, WDR4, WDR62, WNT3, XPNPEP3, ZBTB18, ZBTB20, ZDHHC9,ZEB1, ZEB2, ZFYVE26, ZIC1, ZIC2, ZIC3

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CCraniosynostosis (23 genes)ACTB, ACTG1, CDC45, EFNA4, EFNB1, ERF, FGF10, FGF9, FGFR1, FGFR2, FGFR3, FREM1, HUWE1, IL11RA, MSX2, POR, RECQL4, RUNX2, SLC25A24, TCF12, TLK2, TWIST1, ZIC1

Cystic kidney disease (45 genes)ACE, AGT, AGTR1, AHI1, ARL13B, B9D1, B9D2, C5orf42, CC2D2A, CEP164, CEP290, CEP41, CEP55, CSPP1, DNAJB11, DYNC2LI1, DZIP1L, HNF1B, INPP5E, KIAA0586, KIF7, MAPKBP1, MKS1, MUC1, NPHP1, NPHP3, OFD1, PKD1, PKD2, PKHD1, REN, RPGRIP1L, TCTN1, TCTN2, TCTN3, TMEM107, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TRAF3IP1, TTC21B, UMOD, ZNF423

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DDeafness (146 genes)ABHD12, ACTB, ACTG1, ADCY1, AIFM1, ALMS1, ATP6V1B1, BCS1L, BDP1, BSND, CABP2, CACNA1D, CATSPER2, CCDC50, CDC14A, CDH23, CEACAM16, CHD7, CIB2, CISD2, CLDN14, CLIC5, CLPP, CLRN1, COCH, COL11A1, COL11A2, COL2A1, COL4A5, COL4A6, COL9A1, COL9A2, COL9A3, CRYM, DFNA5, DFNB31, DFNB59, DIABLO, DIAPH1, DIAPH3, DNMT1, DSPP, EDN3, EDNRB, ELMOD3, EPS8, ESPN, ESRRB, EYA1, EYA4, FDXR, FGF3, FOXI1, GATA3, GIPC3, GJB1, GJB2, GJB3, GJB4, GJB6, GPR98, GPSM2, GRHL2, GRXCR1, GRXCR2, HARS, HARS2, HGF, HOMER2, HOXA2, HSD17B4, ILDR1, KARS, KCNE1, KCNJ10, KCNQ1, KCNQ4, LARS2, LHFPL5, LHX3, LOXHD1, LRTOMT, MARVELD2, MASP1, MIR96, MITF, MSRB3, MYH14, MYH9, MYO15A, MYO3A, MYO6, MYO7A, NR2F1, OPA1, OSBPL2, OTOA, OTOF, OTOG, OTOGL, P2RX2, PAX1, PAX2, PAX3, PBX1, PCDH15, PDZD7, PMP22, PNPT1, POU3F4, POU4F3, PRPS1, PTPRQ, RDX, SALL1, SALL4, SERPINB6, SIX1, SIX5, SLC17A8, SLC26A4, SLC4A11, SLITRK6, SMPX, SNAI2, SOX10, SOX2, SPTBN4, STRC, SYNE4, TBC1D24, TECTA, TIMM8A, TJP2, TMC1, TMIE, TMPRSS3, TNC, TPRN, TRIOBP, TSPEAR, TUBB4B, USH1C, USH1G, USH2A, WFS1

Defects of innate immunity (30 genes)APOL1, CARD9, CXCR4, CYBB, FCGR3A, IFNGR1, IFNGR2, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, IRAK4, IRF7, IRF8, ISG15, MYD88, RORC, RPSA, STAT1, STAT2, TBK1, TICAM1, TLR3, TMC6, TMC8, TRAF3, TRAF3IP2, TYK2, UNC93B1

Dementia (64 genes)ALS2, ANG, APOE, APP, ARSA, ATP13A2, ATP7B, C19orf12, CHCHD10, CHMP2B, CSF1R, CYP27A1, DCTN1, DNAJC5, DNMT1, EPM2A, FA2H, FIG4, FTL, FUS, GBA, GCH1, GRN, HTRA2, ITM2B, LRRK2, MAPT, MATR3, NHLRC1, NOTCH3, NPC1, NPC2, NR4A2, OPTN, PANK2, PARK2, PARK7, PINK1, PLA2G6, PRNP, PSEN1, PSEN2, SETX, SNCA, SNCB, SOD1, SPG11, SPG20, SPG21, SQSTM1, TARDBP, TBK1, TH, TREM2, TTR, TUBA4A, TYROBP, UBQLN2, UCHL1, VAPB, VCP, VPS13A, VPS35, XK

Dent disease (2 genes)CLCN5, OCRL

Desmosomal disorders (13 genes)ATP2A2, CDSN, DSC2, DSG1, DSG4, DSP, EDA, EDAR, EDARADD, JUP, PKP1, TP63, WNT10A

Diamond–Blackfan anemia (19 genes)CECR1, GATA1, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TSR2

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DDilated cardiomyopathy (28 genes)ACTC1, ALPK3, ANKRD1, BAG3, CRYAB, CSRP3, DES, DMD, DSG2, DSP, ILK, LAMA4, LAMP2, LDB3, LMNA, MYBPC3, MYH7, NEXN, PLN, RBM20, SCN5A, TAZ, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL

Disorders of immune dysregulation (37 genes)ACP5, ADAR, AIRE, AP3B1, BLOC1S6, CASP10, CASP8, CECR1, CTLA4, FADD, FAS, FASLG, FOXP3, IFIH1, IL10, IL10RA, IL10RB, IL2RA, ITCH, LYST, NFAT5, PRF1, PRKCD, RAB27A, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SH2D1A, STAT3, STX11, STXBP2, TMEM173, TPP2, TREX1, UNC13D, XIAP

Disorders of Sex Development (DSD) (70 genes)AKR1C2, AKR1C4, AMH, AMHR2, AR, ARX, ATF3, ATRX, BMP15, CBX2, CDKN1C, CHD7, CYP11A1, CYP11B1, CYP17A1, CYP19A1, CYP21A2, DHCR24, DHCR7, DHH, DUSP6, FEZF1, FGF17, FGF8, FGFR1, FGFR2, FLRT3, FSHB, FSHR, GATA4, GNRH1, GNRHR, HESX1, HOXA13, HS6ST1, HSD17B3, HSD17B4, HSD3B2, IL17RD, INSL3, KAL1, KISS1R, LEP, LEPR, LHB, LHCGR, LHX3, MAMLD1, MAP3K1, MKKS, NR0B1, NR3C1, NR5A1, PCSK1, POR, PROK2, PROKR2, PROP1, RSPO1, RXFP2, SOX9, SRD5A2, SRY, STAR, TAC3, TSPYL1, WDR11, WNT4, WT1, ZFPM2

Dystonia (110 genes)ACTB, ADAR, ADCY5, AFG3L2, ANO3, APTX, ARSA, ARX, ATM, ATP13A2, ATP1A2, ATP1A3, ATP7B, AUH, BCAP31, C19orf12, CACNA1A, CHMP2B, COASY, CP, CSTB, CYP27A1, DCAF17, DCTN1, DDC, DLAT, DNAJC12, EARS2, FA2H, FBXL4, FBXO7, FOXG1, FOXRED1, FTL, GAMT, GCDH, GCH1, GLB1, GNAL, GNAO1, GNB1, HACE1, HPCA, HPRT1, HTRA2, KCNMA1, KCNQ2, KMT2B, L2HGDH, MAPT, MARS2, MAT1A, MCOLN1, MECR, MMADHC, MPV17, NKX6-2, NPC1, NPC2, PANK2, PARK2, PARK7, PDGFB, PDGFRB, PDHX, PINK1, PLA2G6, PLP1, PNKD, PODXL, PRKRA, PRRT2, PSEN1, PTS, QDPR, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, SDHAF1, SERAC1, SGCE, SLC19A3, SLC20A2, SLC2A1, SLC30A10, SLC39A14, SLC6A3, SNORD118, SPR, SUCLA2, SUOX, SYNJ1, SYT1, TAF1, TH, THAP1, TIMM8A, TOR1A, TPK1, TRAPPC6B, TREX1, TUBB4A, UNC80, VAC14, VPS13A, VPS37A, WDR45, WDR73, YY1

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EEctodermal dysplasia (21 genes)CDH3, CHD1, CTNND1, EDA, EDAR, EDARADD, ENAM, GJB6, IFT122, IFT43, IKBKG, KRT85, MSX1, NFKBIA, PKP1, PRKD1, PVRL1, PVRL4, TP63, WDR35, WNT10A

Epidermolysis bullosa (20 genes)COL17A1, COL7A1, DSP, DST, EXPH5, FERMT1, ITGA3, ITGA6, ITGB4, JUP, KDSR, KLHL24, KRT14, KRT5, LAMA3, LAMB3, LAMC2, PKP1, PLEC, TGM5

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EEpileptic encephalopathy (403 genes)AARS, AARS2, ABAT, ACOX1, ADAR, ADSL, AIMP1, AKT1, AKT3, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALPL, AMPD2, AMT, AP3B2, ARFGEF2, ARHGEF9, ARID1B, ARV1, ARX, ASPA, ATP1A3, ATP5A1, ATP6AP2, ATP7A, ATRX, BCKDHA, BCKDHB, BCS1L, BOLA3, BRAF, BRAT1, BTD, C12orf57, CACNA1A, CACNA2D2, CASK, CC2D2A, CCDC88A, CCND2, CDKL5, CHD2, CHRNA2, CHRNA4, CHRNB2, CLCN4, CLN3, CNKSR2, CNPY3, CNTNAP2, COG4, COG6, COG7, COG8, COL18A1, COL4A1, COL4A2, COQ2, COQ4, COQ6, COQ9, COX10, COX15, CSNK2B, CSTB, CTSD, D2HGDH, DBT, DCX, DDX3X, DENND5A, DEPDC5, DHCR24, DNAJC6, DNM1, DNM1L, DOCK7, DOLK, DPAGT1, DPM1, DPM2, DYNC1H1, DYRK1A, EARS2, EEF1A2, EHMT1, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EMX2, EPG5, EPM2A, ETHE1, EXOSC3, FARS2, FASTKD2, FBXL4, FGF12, FGFR3, FH, FIG4, FKRP, FKTN, FLNA, FOLR1, FOXG1, FOXRED1, FRRS1L, FUCA1, GABRA1, GABRB2, GABRB3, GABRG2, GALC, GAMT, GBA, GCH1, GCSH, GFAP, GFM1, GLB1, GLDC, GLI3, GLUD1, GLUL, GM2A, GNAO1, GNAQ, GNB1, GOSR2, GPAA1, GPHN, GPR56, GRIN1, GRIN2A, GRIN2B, GRIN2D, GTPBP3, H3F3A, H3F3B, HAX1, HCCS, HCFC1, HCN1, HCN2, HECW2, HEPACAM, HEXA, HEXB, HLCS, HNRNPU, HOXA1, HPRT1, HRAS, HSD17B4, HSPD1, HTRA2, IER3IP1, IFIH1, IKBKG, IQSEC2, ISPD, ITPA, KAT5, KCNA2, KCNB1, KCNC1, KCNJ10, KCNJ11, KCNMA1, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCTD3, KCTD7, KIAA1109, KIAA1279, KIAA2022, KIF1A, KIF2A, KIF5C, KRAS, LARGE, LIAS, LIPT2, MANBA, MAP2K1, MAP2K2, MBD5, MBOAT7, MDH2, MECP2, MED12, MED17, MEF2C, MLC1, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MTHFR, MTOR, MTR, NACC1, NAGA, NARS2, NDE1, NDP, NDUFA1, NDUFA10, NDUFA11, NDUFA2, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFS1, NDUFS2, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NECAP1, NEDD4L, NGLY1, NHLRC1, NPRL2, NPRL3, NRAS, NRXN1, NSD1, NSDHL, NUBPL, OCLN, OPHN1, OTX2, PAFAH1B1, PAH, PCCA, PCCB, PCDH19, PCLO, PDHA1, PDHX, PDSS2, PET100, PEX1, PEX7, PHGDH, PIGA, PIGC, PIGN, PIGO, PIGT, PIGW, PIK3CA, PIK3R2, PLAA, PLCB1, PMM2, PNKP, PNPO, POLG, POMGNT1, POMT1, POMT2, PPP3CA, PPT1, PRICKLE1, PROSC, PRRT2, PSAP, PSAT1, PSPH, PTEN, PTF1A, PTPN23, PTS, PURA, QARS, QDPR, RAB11B, RAB18, RAB3GAP1, RAB3GAP2, RARS2, RELN, RFT1, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNU4ATAC, ROGDI, RORB, RRM2B, RTTN, RUSC2, SAMHD1, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, SDHA, SEPSECS, SETBP1, SETD1B, SETD5, SHH, SIK1, SIX3, SLC12A5, SLC13A5, SLC16A2, SLC1A2, SLC25A12, SLC25A22, SLC2A1, SLC35A2, SLC45A1, SLC6A1, SLC6A8, SLC9A6, SMC1A, SNORD118, SPR, SPTAN1, ST3GAL3, ST3GAL5, STAG1, STAMBP, STRADA, STX1B, STXBP1, SUCLA2, SUCLG1, SUOX, SURF1, SYNGAP1, SYNJ1, SZT2, TBC1D20, TBC1D24, TBCD, TBCK, TBL1XR1, TCF4, TFE3, TIMM50, TMEM70, TNK2, TPP1, TRAK1, TRAPPC12, TRAPPC6B, TREX1, TRIM8, TRIP13, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TUBA1A, TUBA8, TUBB, TUBB2B, TUBB3, TUBB4A, TUBG1, UBA5, UBE2A, UBE3A, UNC80, VLDLR, WDR45, WDR45B, WDR62, WDR73, WWOX, YWHAG, ZBTB18, ZEB2

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EEye anterior segment abnormalities (12 genes)B3GALTL, BMP4, CPAMD8, CYP1B1, FOXC1, FOXE3, ITPR1, PAX6, PIK3R1, PITX2, PITX3, PXDN

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FFatty oxidation defects (23 genes)ACAD9, ACADL, ACADM, ACADS, ACADVL, CPT1A, CPT2, ETFA, ETFB, ETFDH, GLUD1, HADH, HADHA, HADHB, HMGCL, HMGCS2, HSD17B10, LPIN1, MLYCD, PPARG, SLC22A5, SLC25A20, TAZ

Frontonasal dysplasia (6 genes)ALX1, ALX3, ALX4, MID1, SPECC1L, ZSWIM6

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GGlaucoma congenital paediatric (17 genes)COL4A1, CREBBP, CYP1B1, EP300, FBN1, FOXC1, LMX1B, LTBP2, MFRP, MYOC, PAX6, PIK3R1, PITX2, POMT1, SBF2, SH3PXD2B, TEK

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HHereditary angioedema (2 genes)F12, SERPING1

Hereditary spastic paraplegia (75 genes)ABCD1, ACOX1, ADAR, AFG3L2, AIMP1, ALDH18A1, ALS2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, ATAD3A, ATL1, B4GALNT1, BSCL2, C12orf65, C19orf12, CCT5, CLPP, CYP2U1, CYP7B1, DDHD1, DDHD2, DSTYK, EPT1, ERLIN2, FA2H, FBXO7, GAD1, GAN, GBA2, GJC2, HARS2, HSPD1, KDM5C, KIAA0196, KIDINS220, KIF1A, KIF1C, KIF5A, L1CAM, LARS2, MARS2, NIPA1, NKX6-2, NT5C2, OPA3, PLP1, PNPLA6, PSEN1, REEP1, RTN2, SACS, SERAC1, SLC16A2, SLC19A3, SLC25A46, SLC2A1, SLC33A1, SPAST, SPG11, SPG20, SPG21, SPG7, STXBP1, TECPR2, TFG, TTR, TUBB4A, VAMP1, VPS37A, WDR45B, ZFYVE26, ZFYVE27

Hirschsprung disease (8 genes)EDN3, EDNRB, KIAA1279, L1CAM, PHOX2B, RET, SOX10, ZEB2

Holoprosencephaly and septo-optic dysplasia (18 genes)CDON, DISP1, DLL1, FGF8, FGFR1, FOXH1, GAS1, GLI2, GLI3, HESX1, NODAL, PTCH1, SHH, SIX3, STIL, TDGF1, TGIF1, ZIC2

Hydrops fetalis (67 genes)ASAH1, BRAF, CBL, CCBE1, CHRNA1, CHRND, CHRNE, CHRNG, COLQ, CTSA,

DOK7, EPHB4, FLT4, FOXC2, FOXP3, GALNS, GBA, GBE1, GLA, GLB1, GLE1, GNPTAB, GUSB, HBA1, HBA2, HRAS, IDUA, KIF23, KLF1, KLHL40, KRAS, LBR, LIPA, LZTR1, MAP2K1, MAP2K2, MUSK, NEU1, NPC1, NRAS, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PIEZO1, PMM2, PTPN11, RAF1, RAPSN, RIT1, RYR1, SHOC2, SLC17A5, SMPD1, SOS1, SOS2, TALDO1

Hyper-IgE syndrome (11 genes)DOCK8, ERCC2, ERCC3, GTF2H5, NFKBID, PGM3, SPINK5, STAT3, TYK2, WAS, WIPF1

Hypercalcemia (8 genes)AP2S1, CASR, CDC73, CYP24A1, GNA11, PTH1R, SLC34A1, SLC9A3R1

Hyperinsulinism (10 genes)ABCC8, EIF2S3, GCK, GLUD1, HADH, HNF1A, HNF4A, KCNJ11, SLC16A1, UCP2

Hyperoxaluria (3 genes)AGXT, GRHPR, HOGA1

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HHypertrichosis syndromes (24 genes)AFF3, AFF4, ARID1A, ARID1B, ARID2, HDAC8, KDM6A, KMT2A, KMT2D, NIPBL, PHF6, PUF60, RAD21, RPS23, SETBP1, SETD5, SLC25A24, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SURF1, WAC

Hypertrophic cardiomyopathy (35 genes)ACTC1, ACTN2, ALPK3, ANKRD1, CALR3, CAV3, CSRP3, DES, FXN, GAA, GLA, JPH2, LAMP2, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYOM1, MYOZ2, NEXN, PLN, PRKAG2, PTPN11, RAF1, SLC25A4, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL

Hypomagnesaemia (15 genes)BSND, CASR, CLDN16, CLDN19, CNNM2, FAM111A, FXYD2, HNF1B, KCNA1, KCNJ10, MAGED2, MAGT1, PCBD1, SLC12A3, TRPM6

Hypophosphatemic Rickets (13 genes)ALPL, CLCN5, CYP27B1, DMP1, ENPP1, FAH, FGF23, KL, OCRL, PHEX, SLC34A1, SLC34A3, VDR

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IIchthyosis (20 genes)ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, FLG, GJB3, GJB4, KRT1, KRT10, KRT2, LIPN, LOR, NIPAL4, PNPLA1, POMP, SERPINB8, STS, SULT2B1, TGM1

Immunological disorders (298 genes)ACP5, ACTB, ADA, ADAM17, ADAR, AICDA, AIRE, AK2, AP1S3, AP3B1, APOL1, ARPC1B, ATM, ATP6AP1, B2M, BACH2, BCL10, BLM, BLNK, BLOC1S6, BTK, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4A, C4B, C5, C6, C7, C8A, C8B, C8G, C9, CARD11, CARD14, CARD9, CASP10, CASP8, CCBE1, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDCA7, CEBPE, CECR1, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CHD7, CIITA, CLPB, COPA, CORO1A, CR2, CSF2RA, CSF2RB, CSF3R, CTLA4, CTPS1, CTSC, CXCR4, CYBA, CYBB, DCLRE1B, DCLRE1C, DKC1, DNAJC21, DNMT3B, DOCK2, DOCK8, ELANE, EPG5, ERCC2, ERCC3, F12, FADD, FAM105B, FAS, FASLG, FAT4, FBF1, FCGR3A, FCN3, FERMT3, FOXN1, FOXP3, FPR1, G6PC3, G6PD, GATA2, GFI1, GINS1, GTF2H5, HAX1, HELLS, ICOS, ICOSLG, IFIH1, IFNGR1, IFNGR2, IGLL1, IKBKB, IKBKG, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, IL1RN, IL21, IL21R, IL2RA, IL2RG, IL36RN, IL7R, INO80, IRAK4, IRF3, IRF7, IRF8, ISG15, ITCH, ITGAM, ITGB2, ITK, JAGN1, JAK3, LAMTOR2, LAT, LCK, LIG4, LPIN2, LRBA, LYST, MAGT1, MALT1, MAP3K14, MASP2, MBL2, MCM4, MEFV, MOGS, MPI, MS4A1, MSN, MTHFD1, MVK, MYD88, NCF1, NCF2, NCF4, NDNL2, NFAT5, NFKB1, NFKB2, NFKBIA, NFKBID, NHEJ1, NHP2, NLRC4, NLRP12, NLRP3, NOD2, NOP10, ORAI1, PARN, PGM3, PIK3CD, PIK3R1, PLCG2, PMS2, PNP, POLA1, POLE, PRF1, PRKCD, PRKDC, PSENEN, PSMA3, PSMB4, PSMB8, PSMB9, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, RASGRP1, RBCK1, RFX5, RFXANK, RFXAP, RHOH, RIPK1, RLTPR, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RNF31, RORC, RPSA, RTEL1, SAMD9, SAMHD1, SBDS, SEMA3E, SERPING1, SH2D1A, SH3BP2, SLC29A3, SLC35C1, SLC37A4, SLC46A1, SMARCAL1, SP110, SPINK5, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAP1, TAP2, TAPBP, TAZ, TBK1, TBX1, TCF3, TCN2, TERC, TERT, THBD, TICAM1, TINF2, TLR3, TMC6, TMC8, TMEM173, TNFAIP3, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFSF12, TPP1, TPP2, TRAF3, TRAF3IP2, TREX1, TRNT1, TTC37, TTC7A, TYK2, UNC13D, UNC93B1, UNG, USB1, VPS13B, VPS45, WAS, WIPF1, XIAP, ZAP70, ZBTB24

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IIncidentalome (128 genes filtered out unless included in specified gene list)A2M, ACTA2, ACTC1, AKAP9, ALS2, ANG, ANK2, APC, APOB, APOE, APP, ATP13A2, ATP7B, BGN, BRCA1, BRCA2, C9orf72, CACNA1C, CACNA1S, CACNA2D1, CACNB2, CALHM1, CASQ2, CDH1, CHMP2B, CLU, COL3A1, DICER1, DSC2, DSG2, DSP, FA2H, FBN1, FIG4, FTL, FUS, GBA, GLA, GPD1L, GRN, HCN4, HTT, KCNE1, KCNE2, KCNH2, KCNJ5, KCNQ1, LDLR, LMNA, LRRK2, LZTR1, MAPT, MEN1, MLH1, MLH3, MSH2, MSH6, MUTYH, MYBPC3, MYH11, MYH7, MYL2, MYL3, MYLK, NF2, NOTCH3, NPC1, NPC2, NR4A2, OPTN, PANK2, PARK2, PARK7, PCSK9, PICALM, PINK1, PKP2, PLA2G6, PMS2, PRKAG2, PRNP, PSEN1, PSEN2, PTEN, RB1, RET, RNASEL, RYR2, SCN1B, SCN3B, SCN4B, SCN5A, SDHAF2, SDHB, SDHC, SDHD, SETX, SMAD3, SNCA, SNCAIP, SNCB, SNTA1, SOD1, SORL1, SPG11, SPG20, STK11, TARDBP, TGFBR1, TGFBR2, TH, TMEM43, TNNI3, TNNT2, TP53, TPM1, TSC1, TSC2, TTN, TUBA4A, UBQLN2, UCHL1, VAPB, VCP, VHL, VPS13A, WT1, XK

Inflammatory bowel disease (50 genes)ADA, AICDA, BTK, CD3G, CD40LG, COL7A1, CTLA4, CYBA, CYBB, DCLRE1C, DOCK8, EPCAM, FERMT1, FOXP3, G6PC3, GUCY2C, HPS1, HPS4, HPS6, ICOS, IKBKG, IL10RA, IL10RB, IL2RA, IL2RG, ITGB2, LIG4, LRBA, MEFV, MVK, NCF1, NCF2, PIK3CD, PTEN, RAG1, RAG2, RTEL1, SAMD9, SH2D1A, SKIV2L, SLC37A4, STAT1, STAT3, STXBP2, TGFBR1, TGFBR2, TTC37, TTC7A, WAS, XIAP

Intellectual disability- syndromic and nonsyndromic (1064 genes)AARS, AASS, ABCC9, ABCD1, ABCD4, ABHD5, ACAD9, ACADM, ACADS, ACADSB, ACAT1, ACO2, ACOX1, ACSL4, ACTB, ACTG1, ACTL6A, ACY1, ADAR, ADCK3, ADK, ADNP, ADSL, AFF2, AFF3, AFF4, AGL, AHDC1, AHI1, AIFM1, AIMP1, AKAP6, AKT3, ALDH18A1, ALDH3A2, ALDH4A1, ALDH5A1, ALDH7A1, ALG1, ALG11, ALG12, ALG13, ALG2, ALG3, ALG6, ALG8, ALG9, ALMS1, ALX4, AMER1, AMPD2, AMT, ANK3, ANKRD11, AP1S1, AP1S2, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, APOPT1, AR, ARCN1, ARFGEF2, ARG1, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARL13B, ARL6, ARMC9, ARSA, ARSB, ARSE, ARV1, ARX, ASAH1, ASH1L, ASMT, ASPA, ASPM, ASS1, ASXL1, ASXL2, ASXL3, ATAD3A, ATIC, ATL1, ATM, ATP13A2, ATP1A2, ATP6AP2, ATP6V0A2, ATP6V1B2, ATP7A, ATR, ATRX, AUH, AUTS2, B3GALNT2, B3GALTL, B4GALNT1, B4GALT7, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAP31, BCKDHA, BCKDHB, BCKDK, BCL11A, BCOR, BCS1L, BIN1, BLM, BMP4, BOLA3, BPTF, BRAF, BRF1, BRIP1, BRPF1, BRWD3, BSCL2, BTD, BUB1B….continued over

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IIntellectual disability- syndromic and nonsyndromic (1064 genes)C12orf4, C12orf57, C12orf65, C2CD3, C3orf58, C5orf42, CA5A, CACNA1A, CACNA1C, CACNA1D, CACNG2, CAMK2A, CAMK2B, CAMTA1, CANT1, CASC5, CASK, CBL, CBS, CC2D1A, CC2D2A, CCBE1, CCDC22, CCDC41, CCDC88A, CCDC88C, CCND2, CDC42, CDC6, CDH11, CDH15, CDK10, CDK13, CDK5R1, CDK5RAP2, CDKL5, CDKN1C, CDON, CENPF, CENPJ, CEP135, CEP152, CEP290, CEP41, CEP57, CHAMP1, CHD2, CHD4, CHD7, CHD8, CHKB, CHMP1A, CHRNA4, CIC, CIT, CKAP2L, CLCN4, CLIC2, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLTC, CNKSR2, CNNM2, CNOT3, CNTN3, CNTNAP2, COA3, COASY, COG1, COG4, COG5, COG7, COG8, COL1A2, COL4A1, COL4A2, COL4A3BP, COLEC10, COLEC11, COQ4, COQ5, COX10, COX15, COX6B1, CPS1, CRADD, CRB2, CRBN, CREBBP, CSNK2A1, CSNK2B, CSPP1, CSTB, CTC1, CTCF, CTDP1, CTNNB1, CTNND2, CTSA, CTSD, CUL4B, CWC27, CYB5R3, CYC1, CYP27A1, D2HGDH, DAG1, DARS, DARS2, DBT, DCAF17, DCHS1, DCX, DDC, DDHD2, DDOST, DDX11, DDX3X, DEAF1, DEPDC5, DHCR24, DHCR7, DHFR, DHTKD1, DHX30, DIAPH1, DIP2B, DIS3L2, DKC1, DLD, DLG3, DLGAP2, DMD, DNAJC12, DNAJC19, DNAJC3, DNM1, DNMT3A, DNMT3B, DOCK3, DOCK7, DOCK8, DOLK, DPAGT1, DPF2, DPM1, DPM2, DPM3, DPP6, DPYD, DSCAM, DYNC1H1, DYRK1A, EBF3, EBP, EED, EEF1A2, EFNB1, EFTUD2, EHMT1, EIF2AK3, EIF2S3, EIF4A3, ELAC2, ELOVL4, ELP2, EML1, EMX2, EP300, EPB41L1, EPG5, EPT1, ERCC1, ERCC2, ERCC3, ERCC5, ERCC6, ERCC6L2, ERCC8, ESCO2, ETHE1, EXOSC3, EXTL3, EZH2, FAM111A, FAM126A, FAM20C, FANCB, FANCG, FAR1, FAT4, FBXL4, FDXR, FGD1, FGF12, FGF14, FGFR1, FGFR2, FGFR3, FH, FIBP, FIG4, FKRP, FKTN, FLNA, FLVCR2, FMN2, FMR1, FOLR1, FOXG1, FOXP1, FOXP2, FOXRED1, FTCD, FTO, FTSJ1, FUCA1, FZD3, G6PC3, GABRA1, GABRB2, GABRB3, GABRG2, GALC, GALE, GAMT, GAN, GATAD2B, GATM, GBA, GCDH, GCH1, GDI1, GEMIN4, GFAP, GFER, GFM1, GJC2, GK, GLB1, GLDC, GLI2, GLI3, GLRA1, GLUL, GLYCTK, GM2A, GMPPA, GMPPB, GNAI1, GNAO1, GNAS, GNB1, GNPAT, GNPTAB, GNPTG, GNS, GPAA1, GPC3, GPR56, GPT2, GRIA3, GRIA4, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRM1, GSS, GTDC2, GTF2H5, GTF3C3, GTPBP2, GTPBP3, GUSB, H3F3A, H3F3B, HACE1, HADHA, HARS2, HAX1, HCCS, HCFC1, HCN1, HDAC4, HDAC8, HECW2, HEPACAM, HERC1, HERC2, HESX1, HEXA, HEXB, HGSNAT, HIBCH, HIST1H1E, HIST1H4C, HIVEP2, HLCS, HMGCL, HNRNPH2, HNRNPK, HNRNPU, HOXA1, HPD, HPRT1, HRAS, HSD17B10, HSD17B4, HSPD1, HTRA2, HUWE1, IARS, IDH2, IDS, IDUA, IER3IP1, IFIH1, IFT172, IGBP1, IGF1, IGF1R, IKBKG, IL1RAPL1, INPP5E, INPP5K, INSR, INTS1, INTS8, IQSEC2, IRF2BPL, IRX5, ISCA2, ISPD, ITGA7, ITPA, ITPR1, IVD, JAM3, KANSL1, KAT5, KAT6A, KAT6B, KATNAL2, KCNA2, KCNB1, KCNC1, KCNH1, KCNJ10, KCNJ11, KCNJ6, KCNK9, KCNQ2, KCNQ3, KCNQ5, KCNT1, KCTD3, KCTD7, KDM1A, KDM5B, KDM5C, KDM6A, KIAA0586, KIAA1109, KIAA1279, KIAA2022, KIDINS220, KIF11, KIF14, KIF1A, KIF4A, KIF5A, KIF5C, KIF7, KLHL7, KMT2A, KMT2C, KMT2D, KMT2E, KPTN, KRAS….continued over page

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IIntellectual disability- syndromic and nonsyndromic (1064 genes)L1CAM, L2HGDH, LAMA1, LAMA2, LAMB1, LAMC3, LAMP2, LARGE, LARP7, LARS2, LAS1L, LHX3, LIG4, LINS, LMBRD1, LNP1, LONP1, LRP2, LRP5, LRPPRC, MAB21L2, MADD, MAF, MAGEL2, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MASP1, MAT1A, MBD5, MBOAT7, MBTPS2, MCCC1, MCCC2, MCOLN1, MCPH1, MDH2, MECP2, MED12, MED13L, MED17, MED23, MED25, MEF2C, MEIS2, MFF, MFSD8, MGAT2, MICU1, MID1, MKKS, MKS1, MLC1, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MOCS1, MOCS2, MOGS, MPDU1, MPI, MPLKIP, MRPS22, MSL3, MSMO1, MTFMT, MTHFR, MTOR, MTR, MTRR, MUT, MVK, MYCN, MYO5A, MYT1L, NAA10, NAA15, NACC1, NAGA, NAGLU, NALCN, NANS, NBN, NCKAP1, NDE1, NDP, NDST1, NDUFA1, NDUFAF5, NDUFS1, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NEU1, NF1, NFIA, NFIX, NFU1, NGF, NGLY1, NHEJ1, NHP2, NHS, NIPBL, NKX2-1, NLGN3, NLGN4X, NONO, NPC1, NPC2, NPHP1, NPHP3, NR2F1, NRAS, NRXN1, NSD1, NSDHL, NSUN2, NT5C2, NTNG1, NTRK1, NUBPL, NUP188, OCLN, OCRL, OFD1, OGT, OPA3, OPHN1, ORC1, OTC, OTUD6B, OTX2, PACS1, PAFAH1B1, PAH, PAK3, PARN, PAX6, PAX7, PAX8, PBX1, PC, PCCA, PCCB, PCDH10, PCDH19, PCLO, PCNT, PDE4D, PDGFRB, PDHA1, PDHX, PDSS1, PDSS2, PEPD, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PGAP1, PGAP2, PGAP3, PGK1, PGM3, PHF6, PHF8, PHGDH, PIEZO2, PIGA, PIGC, PIGL, PIGN, PIGO, PIGT, PIGV, PIGW, PIGY, PIK3CA, PIK3R2, PLA2G6, PLAA, PLCB1, PLK4, PLP1, PMM2, PNKP, PNPLA6, POGZ, POLG, POLR3A, POLR3B, POMGNT1, POMT1, POMT2, PORCN, POU1F1, PPM1D, PPP1CB, PPP1R15B, PPP2R1A, PPP2R5D, PPP3CA, PPT1, PQBP1, PRKD1, PRMT7, PRODH, PROSC, PRPS1, PRRT2, PRSS12, PRUNE, PSAT1, PSMD12, PSPH, PTCH1, PTCHD1, PTDSS1, PTEN, PTF1A, PTPN11, PTPN23, PTS, PUF60, PURA, PUS1, PYCR1, PYCR2, QARS, QDPR, QRICH1, RAB11B, RAB18, RAB23, RAB39B, RAB3GAP1, RAB3GAP2, RAC1, RAD21, RAF1, RAI1, RARB, RARS2, RBBP8, RBFOX1, RBM10, RELN, RERE, RFT1, RHEB, RIMS1, RIT1, RLIM, RMND1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF125, RNF135, ROGDI, ROR2, RPGRIP1L, RPL10, RPS23, RPS6KA3, RRM2B, RTEL1, RTTN, SACS, SAMD9, SAMHD1, SATB2, SC5D, SCN1A, SCN2A, SCN3A, SCN8A, SCO1, SCO2, SDCCAG8, SDHA, SDHAF1, SERAC1, SET, SETBP1, SETD1B, SETD2, SETD5, SGPL1, SGSH, SHANK1, SHANK2, SHANK3, SHH, SHOC2, SHROOM4, SIK1, SIL1, SIN3A, SIX3, SKI, SLC12A5, SLC12A6, SLC13A5, SLC16A2, SLC17A5, SLC19A3, SLC25A1, SLC25A12, SLC25A15, SLC25A22, SLC25A24, SLC2A1, SLC2A2, SLC33A1, SLC35A1, SLC35A2, SLC35C1, SLC39A14, SLC39A8, SLC45A1, SLC46A1, SLC4A4, SLC5A5, SLC6A1, SLC6A17, SLC6A19, SLC6A3, SLC6A4, SLC6A8, SLC6A9, SLC7A7, SLC9A6, SLC9A9, SLX4, SMAD4, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SMC1A, SMC3, SMOC1, SMPD1, SMPD4, SMS, SNAP29, SNIP1, SNORD118, SNRPB, SNX14, SOBP, SON, SOS1, SOX10, SOX11, SOX2, SOX3, SOX5, SOX9, SPAST, SPATA5, SPECC1L, SPG11, SPR, SPRED1, SPRTN, SPTAN1, SPTBN2, SRCAP, SRD5A3, SRPX2, SSR4, ST3GAL3, STAG1, STAMBP, STIL, STRA6, STX11, STX1B, STXBP1, SUCLG1, SUOX, SURF1, SUV420H1, SYN1, SYNGAP1, SYNJ1, SYP, SYT14, SZT2….continued over page

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IIntellectual disability- syndromic and nonsyndromic (1064 genes)TAF1, TAF13, TAF2, TAF6, TANGO2, TAOK1, TAT, TAZ, TBC1D23, TBC1D24, TBC1D7, TBCD, TBCE, TBCK, TBL1XR1, TBR1, TBX1, TCF20, TCF4, TCN2, TCTN2, TECPR2, TECR, TGIF1, TH, THOC2, THOC6, THRA, THRB, TINF2, TLK2, TMCO1, TMEM165, TMEM216, TMEM237, TMEM240, TMEM260, TMEM5, TMEM67, TMEM70, TMLHE, TMTC3, TNIK, TNRC6B, TOE1, TPH2, TPK1 TRAK1, TRAPPC12, TRAPPC6B, TRAPPC9, TREX1, TRIM32, TRIO, TRIP12, TRIP13, TRIT1, TRMT10A, TSC1, TSC2, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSPAN7, TTC19, TTC37, TTC8, TTI2, TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBG1, TUBGCP6, TUSC3, TWIST1, TXNL4A, UBA5, UBE2A, UBE3A, UBE3B, UBR1, UBR4, UBTF, UMPS, UNC13A, UNC80, UPB1, UPF3B, UROC1, USP18, USP9X, VLDLR, VPS13B, VPS53, VRK1, WAC, WDFY3, WDPCP, WDR26, WDR45, WDR45B, WDR62, WDR73, WDR81, WFS1, WWOX, XIST, XPNPEP3, XRCC4, YAP1, YWHAG, YY1, ZBTB16, ZBTB18, ZBTB20, ZBTB24, ZC4H2, ZDHHC9, ZEB2, ZFYVE26, ZIC2, ZMYND11, ZNF711, ZNF81, ZSWIM6

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JJoubert syndrome and other cerebellar malformations (36 genes)AHI1, ARL13B, ARMC8, B9D1, B9D2, C5orf42, CC2D2A, CEP290, CEP41, CSPP1, FOXC1, INPP5E, KIF7, LAMC1, MKS1, NID1, NPHP1, NPHP3, OFD1, PDE6D, RPGRIP1L, SUFU, TCTN1, TCTN2, TCTN3, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TTC21B, VLDLR, WDR81, WNT1, ZIC1, ZIC4

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KKabuki syndrome (7 genes)ACTB, EBF3, HNRNPK, KDM6A, KMT2D, RAP1A, RAP1B

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LLeft ventricular non-compaction (9 genes)ACTC1, DTNA, LDB3, LMNA, MYBPC3, MYH7, NONO, TAZ, TNNT2

Leukodystrophy (150 genes)AARS2, ABCD1, ACBD5, ACOX1, ADAR, ADCK3, AIFM1, AIMP1, ALDH3A2, APOA1BP, ARSA, ASPA, ATP7A, ATP7B, ATPAF2, BCAP31, BCS1L, BOLA3, C10orf2, CLCN2, CNTNAP1, COL4A1, COQ2, COQ9, COX10, COX15, CSF1R, CYP27A1, CYP2U1, CYP7B1, D2HGDH, DARS, DARS2, DGUOK, EARS2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ERCC2, ERCC3, ERCC6, ERCC8, ETFDH, FA2H, FAM126A, FOLR1, FUCA1, GALC, GBE1, GFAP, GFM1, GJA1, GJC2, GLA, GLB1, GTF2H5, HEPACAM, HEXA, HMBS, HSD17B4, HSPD1, HTRA1, IBA57, IFIH1, ISCA2, KIF5A, L2HGDH, LMNB1, MCOLN1, MLC1, MPLKIP, MRPS16, NDUFA2, NDUFAF1, NDUFS1, NDUFS2, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NKX6-2, NOTCH3, NPC1, NPC2, OCLN, OCRL, PEX1, PEX10, PEX12, PEX2, PEX26, PEX3, PEX6, PHGDH, PLP1, POLG, POLG2, POLR1A, POLR1C, POLR3A, POLR3B, PPT1, PRF1, PSAP, PSAT1, PYCR2, RAB11B, RARS, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RRM2B, SAMHD1, SCO1, SCO2, SCP2, SDHA, SDHAF1, SDHB, SLC13A5, SLC16A2, SLC17A5, SLC25A1, SLC25A12, SLC25A4, SNORD118, SOX10, SPAST, SPG11, SPG20, SPG21, SPG7, STX11, STXBP2, SUCLA2, SUMF1, SURF1, TACO1, TMEM106B, TREX1, TUBB4A, TUFM, TYMP, TYROBP, UNC13D, VPS11, ZFYVE26

Lissencephaly and band heterotopia (24 genes)ACTB, ACTG1, ARX, B3GALNT2, B3GNT1, CRADD, DCX, DYNC1H1, EML1, GMPPB, ISPD, KIF2A, KIF5C, LAMA2, LAMB1, LARGE, NDE1, PAFAH1B1, RELN, SNAP29, SRD5A3, TMEM5, TUBA1A, VLDLR

Long QT syndrome (13 genes)AKAP9, ANK2, CACNA1C, CAV3, KCNE1, KCNE2, KCNH2, KCNJ2, KCNJ5, KCNQ1, SCN4B, SCN5A, SNTA1

Lymphedema (13 genes)CCBE1, EPHB4, FAT4, FLT4, FOXC2, GATA2, GJA1, GJC2, IKBKG, KIF11, PIEZO1, SOX18, VEGFC

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MMacrocephaly/Megalencephaly (114 genes)A2ML1, ABCC9, AGA, AKT1, AKT3, AMER1, ANKH, ARSB, ASPA, ASXL2, ATP7A, BRAF, CA2, CBL, CCND2, CDKN1C, CHD8, CLCN7, CTSA, CTSK, D2HGDH, DIS3L2, DNMT3A, EED, EZH2, FAM20C, FERMT3, FIBP, FUCA1, GALC, GALNS, GCDH, GFAP, GLB1, GLI3, GNPTAB, GNPTG, GNS, GPC3, GUSB, HEXA, HEXB, HGSNAT, HRAS, HYAL1, IDS, IDUA, IKBKG, KIF7, KMT2E, KRAS, L2HGDH, LEMD3, LRP5, LZTR1, MAN2B1, MANBA, MAP2K1, MAP2K2, MCOLN1, MED12, MTOR, NAGA, NAGLU, NARR, NEU1, NF1, NFIX, NRAS, NSD1, OFD1, OSTM1, PDGFRB, PHF6, PIK3CA, PIK3R2, PLEKHM1, PPP1CB, PSAP, PTCH1, PTCH2, PTEN, PTH1R, PTPN11, RAF1, RASA2, RASGRP2, RHEB, RIN2, RIT1, RNF125, RNF135, RRAS, SETD2, SGSH, SHOC2, SLC17A5, SLC25A1, SNX10, SOS1, SOS2, SOST, SPRED1, STRADA, SUFU, TAOK1, TBC1D7, TBCK, TCF20, TCIRG1, TGFB1, TNFRSF11A, TNFSF11, TYROBP

Mandibulofacial acrofacial dysostosis (29 genes)DHODH, EDN1, EDNRA, EFTUD2, EIF4A3, EVC, EVC2, GNAI3, GSC, MYT1, PBX1, PLCB4, POLR1A, POLR1C, POLR1D, PRRX1, PUF60, RBM10, RPL11, RPL5, RPS26, RPS28, SCARF2, SF3B4, SNRPB, TCOF1, TMCO1, TSR2, TXNL4A

Mendelian susceptibility to immune disorders (10 genes) CYBB, IFNGR1, IFNGR2, IL12B, IL12RB1, IRF8, ISG15, RORC, STAT1, TYK2

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MMendeliome (as of October 2018) (3771 genes)A2M, A2ML1, A4GALT, AAAS, AAGAB, AANAT, AARS, AARS2, AASS, ABAT, ABCA1, ABCA12, ABCA3, ABCA4, ABCB1, ABCB11, ABCB4, ABCB6, ABCB7, ABCC11, ABCC2, ABCC6, ABCC8, ABCC9, ABCD1, ABCD4, ABCG2, ABCG5, ABCG8, ABHD12, ABHD5, ABL1, ABO, ACACA, ACAD11, ACAD8, ACAD9, ACADL, ACADM, ACADS, ACADSB, ACADVL, ACAT1, ACBD5, ACD, ACE, ACER3, ACHE, ACO2, ACOX1, ACP2, ACP5, ACPT, ACSF3, ACSL4, ACTA1, ACTA2, ACTB, ACTC1, ACTG1, ACTG2, ACTL6A, ACTN1, ACTN2, ACTN4, ACVR1, ACVR2B, ACVRL1, ACY1, ADA, ADAM17, ADAM33, ADAM9, ADAMTS10, ADAMTS13, ADAMTS17, ADAMTS2, ADAMTSL2, ADAMTSL4, ADAR, ADAT3, ADCK3, ADCK4, ADCY1, ADCY10, ADCY5, ADH1B, ADIPOQ, ADIPOR1, ADK, ADNP, ADRB1, ADRB2, ADSL, ADSSL1, AFF2, AFF3, AFF4, AFG3L2, AFP, AGA, AGGF1, AGK, AGL, AGPAT2, AGPS, AGRN, AGRP, AGT, AGTR1, AGXT, AHCY, AHDC1, AHI1, AICDA, AIFM1, AIMP1, AIP, AIPL1, AIRE, AK1, AK2, AKAP10, AKAP6, AKAP9, AKR1C2, AKR1C4, AKR1D1, AKT1, AKT2, AKT3, ALAD, ALAS2, ALB, ALDH18A1, ALDH1A2, ALDH1A3, ALDH2, ALDH3A2, ALDH4A1, ALDH5A1, ALDH6A1, ALDH7A1, ALDOA, ALDOB, ALG1, ALG11, ALG12, ALG13, ALG14, ALG2, ALG3, ALG6, ALG8, ALG9, ALK, ALMS1, ALOX12, ALOX12B, ALOX5AP, ALOXE3, ALPK3, ALPL, ALS2, ALX1, ALX3, ALX4, AMACR, AMBN, AMELX, AMER1, AMH, AMHR2, AMMECR1, AMN, AMPD1, AMPD2, AMPD3, AMT, ANG, ANGPTL3, ANK1, ANK2, ANK3, ANKH, ANKLE2, ANKRD1, ANKRD11, ANKS6, ANLN, ANO10, ANO3, ANO5, ANO6, ANTXR1, ANTXR2, ANXA5, AP1S1, AP1S2, AP1S3, AP2S1, AP3B1, AP3B2, AP4B1, AP4E1, AP4M1, AP4S1, AP5Z1, APC, APCDD1, APOA1, APOA1BP, APOA2, APOA5, APOB, APOC2, APOC3, APOC4-APOC2, APOE, APOL1, APOPT1, APP, APPL1, APRT, APTX, AQP1, AQP2, AQP3, AR, ARCN1, ARFGEF2, ARG1, ARHGAP24, ARHGAP26, ARHGAP29, ARHGAP31, ARHGDIA, ARHGEF10, ARHGEF15, ARHGEF18, ARHGEF6, ARHGEF9, ARID1A, ARID1B, ARID2, ARID5B, ARL11, ARL13B, ARL2BP, ARL6, ARMC4, ARMC8, ARMS2, ARSA, ARSB, ARSE, ART4, ARV1, ARX, ASAH1, ASB10, ASCC1, ASCL1, ASH1L, ASIP, ASL, ASMT, ASNS, ASPA, ASPH, ASPM, ASPN, ASS1, ASTE1, ASTN2, ASXL1, ASXL2, ASXL3, ATAD3A, ATCAY, ATF1, ATF3, ATF6, ATG16L1, ATIC, ATL1, ATL3, ATM, ATN1, ATOH7, ATP13A2, ATP1A2, ATP1A3, ATP2A1, ATP2A2, ATP2B3, ATP2C1, ATP5A1, ATP5E, ATP6AP2, ATP6V0A2, ATP6V0A4, ATP6V1A, ATP6V1B1, ATP6V1B2, ATP6V1E1, ATP7A, ATP8A2, ATP8B1, ATPAF2, ATR, ATRX, ATXN1, ATXN10, ATXN2, ATXN3, ATXN7, AUH, AURKC, AUTS2, AVP, AVPR2, AXIN1, AXIN2,….continued over page

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MMendeliome (as of October 2018) (3771 genes)B2M, B3GALNT1, B3GALNT2, B3GALT6, B3GALTL, B3GAT3, B3GNT1, B3GNT2, B4GALNT1, B4GALT1, B4GALT7, B9D1, B9D2, BAAT, BAG3, BANF1, BANK1, BAP1, BBIP1, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BCAM, BCAP31, BCHE, BCKDHA, BCKDHB, BCKDK, BCL10, BCL11A, BCL2, BCMO1, BCOR, BCR, BCS1L, BDNF, BDP1, BEAN1, BEST1, BFSP1, BFSP2, BGN, BHLHA9, BHLHE41, BICC1, BICD2, BIN1, BLK, BLM, BLNK, BLOC1S3, BLOC1S6, BLVRA, BMP1, BMP15, BMP2, BMP4, BMPER, BMPR1A, BMPR1B, BMPR2, BOLA3, BPGM, BPTF, BRAF, BRAT1, BRCA1, BRCA2, BRF1, BRIP1, BRPF1, BRWD3, BSCL2, BSG, BSND, BTD, BTK, BTNL2, BUB1B, BVES, C10orf11, C10orf2, C11orf73, C11orf83, C12orf4, C12orf57, C12orf65, C19orf12, C1GALT1C1, C1QA, C1QB, C1QBP, C1QC, C1QTNF5, C1R, C1S, C2, C21orf2, C21orf59, C2CD3, C2orf71, C3, C3orf58, C4A, C4B, C4orf26, C5, C5orf42, C6, C6orf70, C7, C7orf10, C8A, C8B, C8G, C8orf37, C9, C9orf72, CA12, CA2, CA4, CA5A, CA8, CABP2, CABP4, CACNA1A, CACNA1B, CACNA1C, CACNA1D, CACNA1F, CACNA1G, CACNA1H, CACNA1S, CACNA2D1, CACNA2D2, CACNA2D4, CACNB2, CACNB4, CACNG2, CALHM1, CALM1, CALM2, CALM3, CALR3, CALU, CAMK2A, CAMK2B, CAMTA1, CANT1, CAPN1, CAPN10, CAPN3, CAPN5, CARD11, CARD14, CARD9, CARS2, CASC5, CASK, CASP10, CASP8, CASQ1, CASQ2, CASR, CAT, CATSPER1, CATSPER2, CAV1, CAV3, CBL, CBS, CBX2, CC2D1A, CC2D2A, CCBE1, CCDC103, CCDC11, CCDC111, CCDC114, CCDC115, CCDC151, CCDC22, CCDC28B, CCDC39, CCDC40, CCDC41, CCDC50, CCDC6, CCDC65, CCDC78, CCDC8, CCDC88A, CCDC88C, CCL2, CCM2, CCND1, CCND2, CCNO, CCR2, CCR5, CCT5, CD151, CD19, CD207, CD209, CD247, CD27, CD2AP, CD320, CD36, CD3D, CD3E, CD3G, CD4, CD40, CD40LG, CD44, CD46, CD55, CD59, CD79A, CD79B, CD81, CD8A, CD96, CDAN1, CDC14A, CDC42, CDC45, CDC6, CDC73, CDH15, CDH23, CDH3, CDHR1, CDK10, CDK13, CDK4, CDK5, CDK5R1, CDK5RAP2, CDK6, CDKAL1, CDKL5, CDKN1B, CDKN1C, CDKN2A, CDKN3, CDON, CDSN, CDT1, CDX2, CEACAM16, CEBPA, CEBPE, CECR1, CEL, CENPE, CENPF, CENPJ, CEP104, CEP120, CEP135, CEP152, CEP164, CEP250, CEP290, CEP41, CEP55, CEP57, CEP63, CEP78, CEP89, CERKL, CERS3, CETP, CFB, CFC1, CFD, CFH,…. continued over page

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MMendeliome (as of October 2018) (3771 genes)CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFL2, CFP, CFTR, CHAMP1, CHAT, CHCHD10, CHD1, CHD1L, CHD2, CHD4, CHD7, CHD8, CHEK2, CHI3L1, CHIT1, CHKB, CHM, CHMP1A, CHMP2B, CHMP4B, CHN1, CHRDL1, CHRM2, CHRM3, CHRNA1, CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNB1, CHRNB2, CHRND, CHRNE, CHRNG, CHST14, CHST3, CHST6, CHST8, CHSY1, CHUK, CIB2, CIC, CIDEC, CIITA, CILP, CIRH1A, CISD2, CISH, CIT, CITED2, CIZ1, CKAP2L, CLCF1, CLCN1, CLCN2, CLCN4, CLCN5, CLCN6, CLCN7, CLCNKA, CLCNKB, CLDN1, CLDN14, CLDN16, CLDN19, CLDN2, CLEC7A, CLIC2, CLIC5, CLMP, CLN3, CLN5, CLN6, CLN8, CLP1, CLPB, CLPP, CLRN1, CLU, CNBP, CNGA1, CNGA3, CNGB1, CNGB3, CNKSR2, CNNM2, CNNM4, CNOT3, CNPY3, CNTN1, CNTN3, CNTNAP1, CNTNAP2, COA3, COA5, COA6, COASY, COCH, COG1, COG2, COG4, COG5, COG6, COG7, COG8, COL10A1, COL11A1, COL11A2, COL12A1, COL13A1, COL17A1, COL18A1, COL1A1, COL1A2, COL25A1, COL27A1, COL2A1, COL3A1, COL4A1, COL4A2, COL4A3, COL4A4, COL4A5, COL4A6, COL5A1, COL5A2, COL6A1, COL6A2, COL6A3, COL7A1, COL8A2, COL9A1, COL9A2, COL9A3, COLEC10, COLEC11, COLQ, COMP, COMT, COPA, COQ2, COQ4, COQ5, COQ6, COQ7, COQ9, CORIN, CORO1A, COX10, COX14, COX15, COX20, COX4I2, COX6A1, COX6B1, COX7B, COX8A, CP, CPA6, CPAMD8, CPN1, CPOX, CPS1, CPT1A, CPT2, CR1, CR2, CRADD, CRB1, CRB2, CRBN, CREB1, CREB3L1, CREBBP, CRELD1, CRLF1, CRTAP, CRX, CRYAA, CRYAB, CRYBA1, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CRYGB, CRYGC, CRYGD, CRYGS, CRYL1, CRYM, CSF1R, CSF2RA, CSF2RB, CSF3R, CSNK1D, CSNK2A1, CSNK2B, CSPP1, CSRP3, CST3, CSTA, CSTB, CTC1, CTCF, CTDP1, CTH, CTHRC1, CTLA4, CTNNA1, CTNNB1, CTNND1, CTNND2, CTNS, CTPS1, CTRC, CTSA, CTSC, CTSD, CTSF, CTSK, CUBN, CUL3, CUL4B, CUL7, CWC27, CWF19L1, CX3CR1, CXCR4, CYB5A, CYB5R3, CYBA, CYBB, CYC1, CYCS, CYLD, CYP11A1, CYP11B1, CYP11B2, CYP17A1, CYP19A1, CYP1A2, CYP1B1, CYP21A2, CYP24A1, CYP26B1, CYP26C1, CYP27A1, CYP27B1, CYP2A6, CYP2B6, CYP2C19, CYP2C8, CYP2D6, CYP2R1, CYP2U1, CYP4F22, CYP4V2, CYP51A1, CYP7B1, D2HGDH, DAB1, DAG1, DARC, DARS, DARS2, DAZ1, DAZ2, DAZ3, DAZ4, DBH, DBT, DCAF17, DCC, DCDC2, DCHS1, DCLRE1B, DCLRE1C, DCN, DCTN1, DCX, DDB2, DDC, DDHD1, DDHD2, DDIT3, DDOST, DDR2, DDX11, DDX3X, DDX58, DDX59, DEAF1, DECR1, DENND5A, DEPDC5, DES, DFNA5, DFNB31, DFNB59, DGAT1, DGKE, DGUOK, DHCR24, DHCR7, DHDDS, DHFR, DHH, DHODH, DHTKD1, DHX30, DHX38, DIABLO, DIAPH1, DIAPH2, DIAPH3, DIO1, DIP2B, DIS3L2, DISC1, DISP1, DKC1, DLAT, DLD, DLEC1, DLG3, DLG4, DLL1, DLL3, DLL4, DLX3, DLX5, DMGDH, DMP1, DMPK, DMRT1, DNA2, DNAAF1, DNAAF2, DNAAF3, DNAH1, DNAH11, DNAH5, DNAH8, DNAI1, DNAI2, DNAJB11, DNAJB13, DNAJB2, DNAJB6, DNAJC12, DNAJC19, DNAJC21, DNAJC3, DNAJC5, DNAJC6, DNAL1, DNASE1, DNASE1L3 ,…. continued over page

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MMendeliome (as of October 2018) (3771 genes)DNM1, DNM1L, DNM2, DNMT1, DNMT3A, DNMT3B, DOCK2, DOCK3, DOCK6, DOCK7, DOCK8, DOK7, DOLK, DONSON, DPAGT1, DPH1, DPM1, DPM2, DPM3, DPP10, DPP6, DPY19L2, DPYD, DPYS, DRAM2, DRC1, DRD3, DRD5, DSC2, DSC3, DSCAM, DSE, DSG1, DSG2, DSG4, DSP, DSPP, DST, DSTYK, DTNA, DTNBP1, DUOX2, DUOXA2, DUSP6, DUX4, DVL1, DVL3, DYM, DYNC1H1, DYNC2H1, DYNC2LI1, DYRK1A, DYRK1B, DYSF, DYX1C1, DZIP1L, EARS2, EBF3, EBP, ECE1, ECEL1, ECEL1P2, ECHS1, ECM1, EDA, EDAR, EDARADD, EDN1, EDN3, EDNRA, EDNRB, EED, EEF1A2, EEF2, EFEMP1, EFEMP2, EFHC1, EFNA4, EFNB1, EFTUD1, EFTUD2, EGF, EGFR, EGLN1, EGR2, EHBP1, EHMT1, EIF2AK3, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, EIF2S3, EIF4A3, EIF4E, EIF4G1, ELAC2, ELANE, ELMO2, ELMOD3, ELN, ELOVL4, ELOVL5, EMC1, EMD, EML1, EMP2, EMX2, ENAM, ENG, ENO3, ENPP1, ENTPD1, EOGT, EOMES, EP300, EPAS1, EPB41, EPB41L1, EPB42, EPCAM, EPG5, EPHA2, EPHA3, EPHB2, EPHB4, EPHX1, EPM2A, EPO, EPOR, EPRS, EPS8, EPT1, EPX, ERBB2, ERBB3, ERBB4, ERC1, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC6L2, ERCC8, ERF, ERG, ERLIN2, ERMAP, ESCO2, ESPN, ESR1, ESRRB, ETFA, ETFB, ETFDH, ETHE1, ETV1, ETV6, EVC, EVC2, EWSR1, EXOC3L2, EXOSC3, EXOSC8, EXPH5, EXT1, EXT2, EXTL3, EYA1, EYA4, EYS, EZH2, F10, F11, F12, F13A1, F13B, F2, F5, F7, F8, F9, FA2H, FADD, FAH, FAM105B, FAM111A, FAM111B, FAM126A, FAM134B, FAM161A, FAM20A, FAM20C, FAM58A, FAM83H, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAR1, FARS2, FAS, FASLG, FASTKD2, FAT1, FAT4, FBF1, FBLN1, FBLN5, FBN1, FBN2, FBP1, FBXL4, FBXO38, FBXO7, FBXW4, FCGR2B, FCGR3A, FCN3, FDX1L, FDXR, FECH, FERMT1, FERMT3, FEV, FEZF1, FFAR4, FGA, FGB, FGD1, FGD4, FGF10, FGF12, FGF14, FGF17, FGF23, FGF3, FGF8, FGF9, FGFR1, FGFR2, FGFR3, FGG, FH, FHL1, FHOD3, FIBP, FIGLA, FIP1L1, FKBP10, FKBP14, FKRP, FKTN, FLAD1, FLCN, FLG, FLI1, FLNA, FLNB, FLNC, FLRT3, FLT3, FLT4, FLVCR1, FLVCR2, FMN2, FMO3, FMR1, FN1, FOLR1, FOXC1, FOXC2, FOXD3, FOXE1, FOXE3, FOXF1, FOXG1, FOXH1, FOXI1, FOXJ1, FOXL2, FOXN1, FOXP1, FOXP2, FOXP3, FOXRED1, FPR1, FRA10AC1, FRAS1, FREM1, FREM2, FRMD7, FRRS1L, FRZB, FSCN2, FSHB, FSHR, FTCD, FTO, FTSJ1, FUCA1,

FUS, FUT1, FUT2, FUT6, FXN, FXYD2, FXYD6, FYCO1, FZD2, FZD3, FZD4, FZD6,

G6PC, G6PC2, G6PC3, G6PD, GAA, GABBR2, GABRA1, GABRA2, GABRB2, GABRB3, GABRD, GABRG2, GAD1, GALC, GALE, GALK1, GALNS, GALNT12, GALNT3, GALT, GAMT, GAN, GANAB, GARS, GAS1, GAS8, GATA1, GATA2, GATA3, GATA4, GATA5, GATA6, GATAD1, GATAD2B, GATM, GBA2, GBE1, GC, GCDH, GCH1, GCK, GCKR, GCLC, GCM2, GCNT2, GCSH, GDAP1, GDF1, GDF2, GDF3, GDF5, GDF6, GDF9, GDI1, GDNF, GEMIN4, GFAP, GFER, GFI1, GFM1, GFM2, GFPT1, GGCX, GGT1, GH1, GHR, GHRHR, GHSR, GIF, GIGYF2, GINS1, GIPC3, GJA1, GJA3, GJA5, GJA8, GJB1, GJB2, GJB3, GJB4, GJB6, GJC2, GK, GLA, GLB1, GLCCI1, GLDC, GLDN, GLE1, GLI2, GLI3, GLIS2, GLIS3, GLMN, GLRA1, GLRB, GLRX5, GLUD1, GLUL, GLYCTK …. continued over page

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MMendeliome (as of October 2018) (3771 genes)GM2A, GMNN, GMPPA, GMPPB, GNA11, GNAI1, GNAI3, GNAL, GNAO1, GNAQ, GNAS, GNAT1, GNAT2, GNB1, GNB3, GNB4, GNB5, GNE, GNMT, GNPAT, GNPTAB, GNPTG, GNRH1, GNRHR, GNS, GOLGA5, GORAB, GOSR2, GOT1, GP1BA, GP1BB, GP6, GP9, GPAA1, GPC3, GPC4, GPC6, GPD1, GPHN, GPI, GPR126, GPR143, GPR179, GPR56, GPR68, GPR98, GPSM2, GPX4, GREB1L, GREM1, GRHL2, GRHL3, GRHPR, GRIA3, GRIA4, GRID2, GRIK2, GRIN1, GRIN2A, GRIN2B, GRIN2D, GRIP1, GRK1, GRM1, GRM6, GRXCR1, GRXCR2, GSC, GSN, GSR, GSS, GTDC2, GTF2E2, GTF2H5, GTF3C3, GTPBP3, GUCA1A, GUCA1B, GUCY1A3, GUCY2C, GUCY2D, GUSB, GYG1, GYPA, GYPB, GYPC, GYS1, GYS2, GZF1, H3F3A, H3F3B, H6PD, HAAO, HACE1, HADH, HADHA, HADHB, HAL, HAMP, HAND1, HAND2, HAO1, HARS, HARS2, HAX1, HBA1, HBA2, HBB, HBG2, HCCS, HCFC1, HCN1, HCN2, HCN4, HCRT, HDAC4, HDAC8, HEATR2, HECW2, HEPACAM, HERC2, HES7, HESX1, HEXA, HEXB, HFE, HFE2, HGD, HGF, HGSNAT, HHIP, HIBCH, HINT1, HIST1H1E, HIST1H4C, HK1, HLA-A, HLA-B, HLA-C, HLA-DRA, HLA-DRB1, HLCS, HMBS, HMCN1, HMGA2, HMGCL, HMGCR, HMGCS2, HMOX1, HMX1, HN1, HNF1A, HNF1B, HNF4A, HNMT, HNRNPA1, HNRNPH2, HNRNPK, HNRNPU, HOGA1, HOMER2, HOXA1, HOXA11, HOXA13, HOXA2, HOXA4, HOXB1, HOXB6, HOXC13, HOXD10, HOXD13, HOXD4, HP, HPCA, HPD, HPGD, HPRT1, HPS1, HPS3, HPS4, HPS5, HPS6, HPSE2, HR, HRAS, HRG, HS6ST1, HSD11B1, HSD11B2, HSD17B10, HSD17B3, HSD17B4, HSD3B2, HSD3B7, HSF4, HSPA9, HSPB1, HSPB3, HSPB8, HSPD1, HSPG2, HTR1A, HTR3C, HTR3D, HTRA1,

HTRA2, HTT, HUWE1, HYAL1, HYDIN, HYLS1, , IARS, IARS2, IBA57, ICAM1,

ICAM4, ICK, ICOS, ICOSLG, IDH1, IDH2, IDH3B, IDS, IDUA, IER3IP1, IFIH1, IFITM3, IFITM5, IFNAR2, IFNG, IFNGR1, IFNGR2, IFT122, IFT140, IFT172, IFT27, IFT43, IFT52, IFT57, IFT80, IFT81, IGBP1, IGF1, IGF1R, IGF2, IGFALS, IGFBP7, IGHMBP2, IGLL1, IGSF1, IHH, IKBKAP, IKBKB, IKBKG, IKZF1, IL10, IL10RA, IL10RB, IL11RA, IL12B, IL12RB1, IL13, IL17F, IL17RA, IL17RC, IL17RD, IL1RAPL1, IL1RN, IL21, IL21R, IL23R, IL2RA, IL2RG, IL31RA, IL36RN, IL4, IL6, IL6R, IL7R, ILDR1, ILK, IMMP2L, IMPAD1, IMPDH1, IMPG1, IMPG2, INF2, ING1, ING3, INPP5E, INPP5K, INPPL1, INS, INSL3, INSR, INSRR, INTS1, INTS6, INTS8, INTU, INVS, IQCB1, IQCG, IQSEC2, IRAK3, IRAK4, IRF1, IRF2BPL, IRF4, IRF5, IRF6, IRF7, IRF8, IRGM, IRS1, IRX4, IRX5, ISCA2, ISCU, ISG15, ISPD, ITCH, ITGA2B, ITGA3, ITGA6, ITGA7, ITGA8, ITGA9, ITGAM, ITGB2, ITGB3, ITGB4, ITK, ITM2B, ITPA, ITPKC, ITPR1, IVD, IYD, JAG1, JAGN1, JAK2, JAK3, JAM3, JPH2, JPH3, JUP, …. continued over page

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MMendeliome (as of October 2018) (3771 genes)KAAG1, KAL1, KALRN, KANK1, KANK2, KANSL1, KARS, KAT5, KAT6A, KAT6B, KATNAL2, KATNB1, KBTBD13, KCNA1, KCNA2, KCNA5, KCNB1, KCNC1, KCNC3, KCND3, KCNE1, KCNE1L, KCNE2, KCNE3, KCNH1, KCNH2, KCNJ1, KCNJ10, KCNJ11, KCNJ13, KCNJ2, KCNJ5, KCNJ6, KCNJ8, KCNK18, KCNK3, KCNK9, KCNMA1, KCNMB1, KCNQ1, KCNQ2, KCNQ3, KCNQ4, KCNQ5, KCNT1, KCNV2, KCTD1, KCTD17, KCTD3, KCTD7, KDM1A, KDM5B, KDM5C, KDM6A, KDR, KDSR, KEL, KERA, KHDC3L, KHK, KIAA0196, KIAA0319, KIAA0556, KIAA0586, KIAA0753, KIAA1109, KIAA1279, KIAA2022, KIDINS220, KIF11, KIF14, KIF1A, KIF1B, KIF1C, KIF21A, KIF22, KIF23, KIF2A, KIF4A, KIF5A, KIF5C, KIF7, KISS1, KISS1R, KIT, KITLG, KL, KLF1, KLF11, KLF6, KLHDC8B, KLHL10, KLHL24, KLHL3, KLHL40, KLHL41, KLHL7, KLK1, KLK4, KLKB1, KLLN, KMT2A, KMT2B, KMT2C, KMT2D, KMT2E, KNG1, KPTN, KRAS, KRIT1, KRT1, KRT10, KRT12, KRT13, KRT14, KRT16, KRT17, KRT18, KRT2, KRT25, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT74, KRT75, KRT8, KRT81, KRT83, KRT85, KRT86, KRT9, KY, KYNU, L1CAM, L2HGDH, LAGE3, LAMA1, LAMA2, LAMA3, LAMA4, LAMA5, LAMB1, LAMB2, LAMB3, LAMC1, LAMC2, LAMC3, LAMP2, LAMTOR2, LARGE, LARP7, LARS2, LAS1L, LBR, LCA5, LCAT, LCK, LCT, LDB3, LDHA, LDHB, LDLR, LDLRAP1, LEFTY2, LEMD3, LEP, LEPR, LEPRE1, LEPREL1, LFNG, LGI1, LGI4, LGR4, LHB, LHCGR, LHFPL5, LHX3, LHX4, LIAS, LIFR, LIG4, LIM2, LINS, LIPA, LIPC, LIPH, LIPI, LIPN, LIPT1, LIPT2, LITAF, LMAN1, LMBR1, LMBRD1, LMF1, LMNA, LMNB1, LMNB2, LMOD1, LMOD3, LMX1B, LONP1, LONP2, LOR, LOX, LOXHD1, LOXL1, LPA, LPAR6, LPIN1, LPIN2, LPL, LRAT, LRBA, LRIG2, LRIT3, LRP1, LRP2, LRP4, LRP5, LRP6, LRP8, LRPPRC, LRRC6, LRRC8A, LRRK2, LRSAM1, LRTOMT, LTA, LTBP2, LTBP3, LTBP4, LTC4S, LYRM4, LYRM7, LYST, LYZ, LZTFL1, LZTR1, LZTS1, MAB21L2, MADD, MAF, MAFB, MAG, MAGED2, MAGEL2, MAGI2, MAGT1, MAK, MALT1, MAMLD1, MAN1B1, MAN2B1, MANBA, MAOA, MAP2K1, MAP2K2, MAP3K1, MAP3K14, MAP3K7, MAPK8IP1, MAPKBP1, MAPRE2, MARS, MARS2, MARVELD2, MASP1, MASP2, MASTL, MAT1A, MAT2A, MATN3, MATR3, MAX, MBD5, MBL2, MBNL1, MBOAT7, MBTPS2, MC1R, MC2R, MC3R, MC4R, MCCC1, MCCC2, MCEE, MCFD2, MCIDAS, MCM4, MCM6, MCM8, MCM9, MCOLN1, MCPH1, MDH2, MDM2, MECOM, MECP2, MECR, MED12, MED13L, MED17, MED23, MED25, MEF2A, MEF2C, MEFV, MEGF10, MEGF8, MEIS1, MEIS2, MEN1, MEOX1, MERTK, MESP2, MET, METTL23, MFAP5, MFF, MFN2, MFRP, MFSD2A, MFSD8, MGAT2, MGME1, MGP, MIB1, MICA, MICB, MICU1, MID1, MIF, MIP, MIR182, MIR183, MIR184, MIR5004, MIR936, MIR96, MITF, MKKS, MKRN3, MKS1, MLC1, MLH1, MLPH, MLX, MLYCD, MMAA, MMAB, MMACHC, MMADHC, MME, MMP13, MMP2, MMP20, MMP21, MMP3, MMP9, MN1, MNF1, MNX1, MOCOS, MOCS1, MOCS2, MOCS3, MOG, MOGS, MORC2, MPC1, MPDU1, MPDZ, MPI, MPL, MPLKIP, MPO, MPST, MPV17, MPZ, MR1, MRAP, MRE11A, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS23, MRPS34, MRPS7, MS4A1, MSH2, MSH3, MSH6, MSL3, MSMB, MSMO1,MSR1, MSRB3, MSTN, MSTO1, MSX1, MSX2, MTAP, MTFMT, MTHFD1,

MTHFR, MTM1, MTMR14, MTMR2, MTO1, MTOR, MTPAP, MTR, MTRR, …. continued over page

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MMendeliome (as of October 2018) (3771 genes)MTTP, MUC1, MUC5B, MUC7, MUSK, MUT, MUTYH, MVK, MXI1, MYBPC1, MYBPC3, MYC, MYCN, MYD88, MYEF2, MYF6, MYH11, MYH14, MYH2, MYH3, MYH6, MYH7, MYH8, MYH9, MYL2, MYL3, MYLK, MYLK2, MYO15A, MYO18B, MYO1A, MYO1E, MYO3A, MYO5A, MYO5B, MYO6, MYO7A, MYO9B, MYOC, MYOCD, MYOM1, MYOT, MYOZ2, MYPN, MYT1, MYT1L, NAA10, NAA15, NACC1, NAGA, NAGLU, NAGS, NALCN, NANS, NARS2, NAT2, NAT8L, NBAS, NBEAL2, NBN, NCAPD2, NCAPD3, NCAPH, NCF1, NCF2, NCF4, NCKAP1, NCOA4, NCR3, NCSTN, NDE1, NDN, NDNL2, NDP, NDRG1, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA7, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFAF7, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS5, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NEB, NEBL, NECAP1, NEDD4L, NEFH, NEFL, NEK1, NEK2, NEK8, NEK9, NEU1, NEUROD1, NEUROG3, NEXN, NF1, NF2, NFAT5, NFIA, NFIX, NFKB1, NFKB2, NFKBIA, NFKBID, NFKBIL1, NFS1, NFU1, NGF, NGLY1, NHEJ1, NHLRC1, NHLRC2, NHP2, NHS, NID1, NIN, NIPA1, NIPAL4, NIPBL, NKX2-1, NKX2-5, NKX2-6, NKX3-2, NKX6-2, NLGN3, NLGN4X, NLRC4, NLRP1, NLRP12, NLRP2, NLRP3, NLRP7, NME8, NMNAT1, NNT, NOBOX, NOD2, NODAL, NOG, NOL3, NONO, NOP10, NOP56, NOS1AP, NOS2, NOS3, NOTCH1, NOTCH2, NOTCH3, NPAS2, NPHP1, NPHP3, NPHP4, NPHS1, NPHS2, NPPA, NPR2, NPR3, NPRL2, NPRL3, NPSR1, NR0B1, NR0B2, NR1H4, NR2E1, NR2E3, NR2F1, NR2F2, NR3C1, NR3C2, NR4A3, NR5A1, NRAS, NRL, NRXN1, NSD1, NSDHL, NSMF, NSUN2, NT5C2, NT5C3A, NT5DC1, NT5E, NTF4, NTN1, NTNG1, NTRK1, NTRK2, NUBPL, NUP107, NUP188, NUP205, NUP62, NUP93, NUS1, NXN, NYX, OAT, OBSL1, OCA2, OCLN, OCRL, OFD1, OGG1, OPA1, OPA3, OPCML, OPHN1, OPLAH, OPN1LW, OPN1MW, OPN1MW2, OPN1SW, OPTN, OR2J3, ORAI1, ORC1, ORC4, ORC6, ORMDL3, OSBPL2, OSGEP, OSMR, OSR1, OSTM1, OTC, OTOA, OTOF, OTOG, OTOGL, OTUD6B, OTX2, OVOL2, OXCT1, P2RX2, P2RY12, P4HB, PABPN1, PACRG, PACS1, PADI3, PADI4, PAFAH1B1, PAH, PAK3, PAK6, PALB2, PALLD, PAPSS2, PARK2, PARN, PARS2, PAX1, PAX2, PAX3, PAX4, PAX5, PAX6, PAX7, PAX8, PAX9, PBRM1, PBX1, PC, PCBD1, PCCA, PCCB, PCDH10, PCDH15, PCDH19, PCK1, PCK2, PCLO, PCNT, PCSK1, PCSK9, PCYT1A, PDCD1, PDCD10, PDE10A, PDE11A, PDE3A, PDE4D, PDE6A, PDE6B, PDE6C, PDE6D, PDE6G, PDE6H, PDE8B, PDGFB, PDGFRA, PDGFRB, PDGFRL, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PDX1, PDYN, PDZD7, PEPD, PER2, PET100, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PFKM, PFN1, PGAM2, PGAP1, PGAP2, PGAP3, PGK1, PGM1, PGM3, PHC1, PHEX, PHF11, PHF6, PHF8, PHGDH, PHKA1, PHKA2, PHKB, PHKG2, PHOX2A, PHOX2B, PHYH, PHYKPL, PI4KA, PICALM, PIEZO1, PIEZO2, PIGA, PIGC, PIGG, PIGL, PIGM, PIGN, PIGO, PIGT, PIGV, PIGW, PIGY, PIH1D3, PIK3CA, PIK3CD, PIK3R1, PIK3R2, PIK3R5, PIKFYVE, PIP5K1C, PISD, PITPNM3, PITX1, PITX2, PITX3, PKD1, PKD1L1, PKD2, PKHD1, PKLR, PKP1, PKP2, PLA2G5, PLA2G6, PLA2G7, PLAA, PLAG1, PLCB1, PLCB4, PLCD1, PLCE1, PLCG2, PLD1, PLEC, PLEKHG5, PLEKHM1, PLG, PLIN1, PLK1S1, PLK4, PLN, …. continued over page

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MMendeliome (as of October 2018) (3771 genes)PLOD1, PLOD2, PLOD3, PLP1, PLS3, PMM2, PMP22, PMPCA, PMS2, PNKD, PNKP, PNP, PNPLA1, PNPLA2, PNPLA3, PNPLA4, PNPLA6, PNPLA8, PNPO, PNPT1, POC1A, POC1B, PODXL, POF1B, POFUT1, POGLUT1, POGZ, POLD1, POLE, POLG, POLG2, POLH, POLR1A, POLR1C, POLR1D, POLR3A, POLR3B, POMC, POMGNT1, POMP, POMT1, POMT2, PON1, POP1, POR, PORCN, POU1F1, POU3F4, POU4F3, POU6F2, PPA2, PPARA, PPARG, PPIB, PPM1D, PPM1E, PPM1K, PPOX, PPP1CB, PPP1R15B, PPP1R3A, PPP2R2B, PPP2R5D, PPP3CA, PPT1, PQBP1, PRCD, PRDM12, PRDM16, PRDM5, PREPL, PRF1, PRG4, PRICKLE1, PRICKLE2, PRKAG2, PRKAG3, PRKAR1A, PRKCD, PRKCG, PRKCH, PRKCSH, PRKD1, PRKDC, PRKG1, PRKRA, PRMT7, PROC, PRODH, PROK2, PROKR2, PROM1, PROP1, PROS1, PROSC, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH, PRPH2, PRPS1, PRRT2, PRRX1, PRSS1, PRSS12, PRSS56, PRX, PSAP, PSAT1, PSEN1, PSEN2, PSENEN, PSMA3, PSMB8, PSMB9, PSMC2, PSMC3IP, PSMD12, PSPH, PSTPIP1, PTCH1, PTCH2, PTCHD1, PTDSS1, PTEN, PTF1A, PTGDR, PTH, PTH1R, PTHLH, PTPLA, PTPN11, PTPN14, PTPN22, PTPN23, PTPRC, PTPRO, PTPRQ, PTRF, PTRH2, PTS, PUF60, PURA, PUS1, PUS10, PUS3, PVRL1, PVRL4, PXDN, PYCR1, PYCR2, PYGL, PYGM, PYROXD1, QARS, QDPR, QRICH1, QRSL1, RAB11B, RAB18, RAB23, RAB27A, RAB33B, RAB39B, RAB3GAP1, RAB3GAP2, RAB7A, RAC1, RAC2, RAD21, RAD50, RAD51, RAD51C, RAD51D, RAF1, RAG1, RAG2, RAI1, RANBP2, RAP1A, RAP1B, RAPSN, RARA, RARB, RARS, RARS2, RASA1, RASA2, RASGRP1, RASGRP2, RASSF8, RAX, RAX2, RB1, RBBP8, RBCK1, RBFOX1, RBM10, RBM20, RBM28, RBM8A, RBP3, RBP4, RBPJ, RCBTB1, RD3, RDH12, RDH5, RDX, RECQL4, REEP1, REEP2, REEP6, RELN, REN, RERE, REST, RET, REV3L, RFC2, RFT1, RFWD3, RFX5, RFX6, RFXANK, RFXAP, RGR, RGS9, RGS9BP, RHAG, RHBDF2, RHCE, RHEB, RHO, RHOH, RIC3, RIMS1, RIN2, RIPK4, RIPPLY2, RIT1, RLBP1, RMI2, RMND1, RMRP, RNASEH1, RNASEH2A, RNASEH2B, RNASEH2C, RNASET2, RNF113A, RNF125, RNF135, RNF139, RNF168, RNF170, RNF212, RNF213, RNF216, RNF31, RNF6, RNU4ATAC, ROBO1, ROBO2, ROBO3, ROGDI, ROM1, ROR2, RORB, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RPGRIP1L, RPIA, RPL10, RPL11, RPL15, RPL26, RPL27, RPL31, RPL35A, RPL5, RPN2, RPS10, RPS17, RPS19, RPS23, RPS24, RPS26, RPS27, RPS28, RPS29, RPS6KA3, RPS7, RPSA, RRAGC, RRAS, RRAS2, RRM2B, RS1, RSPH1, RSPH3, RSPH4A, RSPH9, RSPO1, RSPO2, RSPO4, RSPRY1, RTEL1, RTN2, RTN4IP1, RTTN, RUNX1, RUNX2, RUSC2, RXFP2, RYR1, RYR2, …. continued over page

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MMendeliome (as of October 2018) (3771 genes)S1PR2, SACS, SAG, SALL1, SALL3, SALL4, SAMD9, SAMD9L, SAMHD1, SAR1B, SARDH, SARS2, SART3, SASH1, SASS6, SAT1, SATB2, SBDS, SBF1, SBF2, SC5D, SCARB1, SCARB2, SCARF2, SCLT1, SCN10A, SCN11A, SCN1A, SCN1B, SCN2A, SCN3A, SCN3B, SCN4A, SCN4B, SCN5A, SCN8A, SCN9A, SCNN1A, SCNN1B, SCNN1G, SCO1, SCO2, SCP2, SCRIB, SCYL1, SDCCAG8, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SEC23A, SEC23B, SEC24D, SEC61A1, SEC63, SECISBP2, SELP, SEMA3A, SEMA3E, SEMA4A, SEMA7A, SEPN1, SEPSECS, SEPT9, SERAC1, SERPINA1, SERPINA6, SERPINA7, SERPINB6, SERPINB8, SERPINC1, SERPIND1, SERPINE1, SERPINF1, SERPINF2, SERPING1, SERPINH1, SERPINI1, SET, SETBP1, SETD1B, SETD2, SETD5, SF3B4, SFRP4, SFTPA1, SFTPA2, SFTPB, SFTPC, SFXN4, SGCA, SGCB, SGCD, SGCE, SGCG, SGK196, SGOL1, SGPL1, SGSH, SH2B3, SH2D1A, SH3BP2, SH3PXD2B, SH3TC2, SHANK2, SHANK3, SHH, SHOC2, SHOX, SHROOM4, SI, SIAE, SIGMAR1, SIK1, SIL1, SIM1, SIN3A, SIX1, SIX2, SIX3, SIX5, SIX6, SKI, SKIV2L, SLC10A2, SLC11A1, SLC11A2, SLC12A1, SLC12A3, SLC12A5, SLC12A6, SLC13A5, SLC14A1, SLC16A1, SLC16A12, SLC16A2, SLC17A3, SLC17A5, SLC17A8, SLC18A3, SLC19A2, SLC19A3, SLC1A1, SLC1A2, SLC1A3, SLC1A4, SLC20A2, SLC22A12, SLC22A4, SLC22A5, SLC24A1, SLC24A4, SLC24A5, SLC25A1, SLC25A12, SLC25A13, SLC25A15, SLC25A19, SLC25A20, SLC25A22, SLC25A24, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC26A1, SLC26A2, SLC26A3, SLC26A4, SLC26A5, SLC26A8, SLC27A4, SLC27A5, SLC29A3, SLC2A1, SLC2A10, SLC2A2, SLC2A4, SLC2A9, SLC30A10, SLC30A2, SLC30A8, SLC33A1, SLC34A1, SLC34A2, SLC34A3, SLC35A1, SLC35A2, SLC35A3, SLC35C1, SLC35D1, SLC36A2, SLC37A4, SLC38A8, SLC39A13, SLC39A14, SLC39A4, SLC39A5, SLC39A8, SLC3A1, SLC40A1, SLC45A1, SLC45A2, SLC46A1, SLC4A1, SLC4A11, SLC4A4, SLC52A1, SLC52A2, SLC52A3, SLC5A1, SLC5A2, SLC5A5, SLC5A7, SLC6A1, SLC6A17, SLC6A19, SLC6A2, SLC6A20, SLC6A3, SLC6A4, SLC6A5, SLC6A8, SLC6A9, SLC7A7, SLC7A9, SLC9A3, SLC9A3R1, SLC9A6, SLC9A9, SLCO1B1, SLCO1B3, SLCO2A1, SLIT2, SLITRK1, SLITRK6, SLURP1, SLX4, SMAD2, SMAD3, SMAD4, SMAD6, SMAD7, SMAD9, SMARCA1, SMARCA2, SMARCA4, SMARCAD1, SMARCAL1, SMARCB1, SMARCE1, SMC1A, SMC3, SMCHD1, SMG9, SMIM1, SMN1, SMN2, SMO, SMOC1, SMOC2, SMPD1, SMPX, SMS, SNAI2, SNAP29, SNCA, SNIP1, SNORD118, SNRNP200, SNRPB, SNRPE, SNX10, SNX14, SNX3, SOBP, SOD2, SON, SORL1, SORT1, SOS1, SOS2, SOST, SOX10, SOX11, SOX17, SOX18, SOX2, SOX3, SOX5, SOX9, SP110, SP7, SPAG1, SPAG7, SPARC, SPAST, SPATA16, SPATA5, SPATA7, SPECC1L, SPEG, SPG11, SPG21, SPG7, SPINK1, SPINK5, SPINT2, SPR, SPRED1, SPRTN, SPRY1, SPRY4, SPTA1, SPTAN1, SPTB, SPTBN2, SPTBN4, SPTLC1, SPTLC2, SQSTM1, SRCAP, SRD5A2, SRD5A3, SRGAP1, SRP54, SRP72, SRPX2, SRY, SSR4, ST14, ST3GAL3, ST3GAL5, STAC3, STAG1, STAMBP, STAR, STAT1, STAT2, STAT3, STAT4, STAT5B, …. continued over page

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MMendeliome (as of October 2018) (3771 genes)STEAP3, STIL, STIM1, STK10, STK11, STK36, STK4, STOX1, STRA6, STRADA, STRC, STS, STT3A, STT3B, STUB1, STX11, STX16, STX1B, STXBP1, STXBP2, SUCLA2, SUCLG1, SUFU, SULT2B1, SUMF1, SUMO1, SUMO4, SUOX, SURF1, SUV420H1, SYCP3, SYN1, SYN3, SYNE1, SYNE2, SYNE4, SYNGAP1, SYNJ1, SYP, SYT1, SYT14, SYT2, SZT2, T, TAB2, TAC3, TACO1, TACR3, TACSTD2, TAF1, TAF13, TAF2, TAF6, TALDO1, TANGO2, TAOK1, TAP1, TAP2, TAPBP, TAPT1, TARDBP, TARS2, TAS2R16, TAS2R38, TAT, TAX1BP3, TAZ, TBC1D1, TBC1D20, TBC1D23, TBC1D24, TBC1D32, TBC1D7, TBCD, TBCE, TBCK, TBK1, TBL1XR1, TBP, TBR1, TBX1, TBX15, TBX18, TBX19, TBX20, TBX21, TBX22, TBX3, TBX4, TBX5, TBX6, TBXA2R, TBXAS1, TCAP, TCF12, TCF20, TCF3, TCF4, TCF7L2, TCHH, TCIRG1, TCN2, TCOF1, TCTEX1D2, TCTN1, TCTN2, TCTN3, TDGF1, TDP1, TDRD7, TEAD1, TECPR2, TECR, TECTA, TEK, TELO2, TENM1, TENM3, TERC, TERT, TET2, TF, TFAP2A, TFAP2B, TFE3, TFG, TFR2, TFRC, TG, TGDS, TGFB1, TGFB2, TGFB3, TGFBI, TGFBR1, TGFBR2, TGIF1, TGM1, TGM3, TGM5, TGM6, TH, THAP1, THBD, THBS2, THOC2, THOC6, THPO, THRA, THRB, THSD1, TIA1, TICAM1, TIMM44, TIMM50, TIMM8A, TIMP3, TINF2, TIRAP, TJP2, TK2, TKT, TLK2, TLL1, TLR1, TLR2, TLR3, TLR4, TLR5, TLR7, TMC1, TMC6, TMC8, TMCO1, TMEM106B, TMEM107, TMEM126A, TMEM126B, TMEM127, TMEM138, TMEM165, TMEM173, TMEM199, TMEM216, TMEM231, TMEM237, TMEM240, TMEM260, TMEM38B, TMEM43, TMEM5, TMEM67, TMEM70, TMEM98, TMIE, TMLHE, TMPO, TMPRSS15, TMPRSS3, TMPRSS6, TMTC3, TNC, TNF, TNFAIP3, TNFRSF10B, TNFRSF11A, TNFRSF11B, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFSF11, TNFSF12, TNFSF4, TNIK, TNK2, TNNC1, TNNI2, TNNI3, TNNT1, TNNT2, TNNT3, TNRC6B, TNXB, TOE1, TOPORS, TOR1A, TP53, TP53RK, TP63, TPCN2, TPH2, TPK1, TPM1, TPM2, TPM3, TPMT, TPO, TPP1, TPP2, TPRKB, TPRN, TPTE2P5, TRAF3, TRAF3IP1, TRAF3IP2, TRAIP, TRAK1, TRAP1, TRAPPC11, TRAPPC12, TRAPPC2, TRAPPC2P1, TRAPPC6B, TRAPPC9, TRDN, TREM2, TREX1, TRHR, TRIM2, TRIM24, TRIM27, TRIM32, TRIM33, TRIM37, TRIM8, TRIO, TRIOBP, TRIP11, TRIP12, TRIP13, TRIP4, TRIT1, TRMT10A, TRMT10C, TRMT5, TRMU, TRNT1, TRPA1, TRPC6, TRPM1, TRPM4, TRPM6, TRPM7, TRPS1, TRPV3, TRPV4, TSC1, TSC2, TSEN15, TSEN2, TSEN34, TSEN54, TSFM, TSHB, TSHR, TSHZ1, TSPAN12, TSPAN7, TSPEAR, TSPYL1, TSR2, TST, TTBK2, TTC19, TTC21B, TTC25, TTC37, TTC7A, TTC8, TTI2, TTLL5, TTPA, TTR, TUB, TUBA1A, TUBA8, TUBB, TUBB1, TUBB2A, TUBB2B, TUBB3, TUBB4A, TUBB4B, TUBB8, TUBG1, TUBGCP4, TUBGCP6, TUFM, TULP1, TUSC3, TWIST1, TWIST2, TXN2, TXNDC15, TXNL4A, TXNRD2, TYK2, TYMP, TYR, TYROBP, TYRP1, , …. continued over page

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MMendeliome (as of October 2018) (3771 genes)UBA1, UBA5, UBE2A, UBE2T, UBE3A, UBE3B, UBIAD1, UBQLN2, UBR1, UBR4, UBTF, UCHL1, UCP2, UCP3, UGT1A1, UGT1A4, UGT2B17, UMOD, UMPS, UNC119, UNC13A, UNC13D, UNC80, UNC93B1, UNG, UPB1, UPF3B, UPK3A, UQCRB, UQCRC2, UQCRQ, UROC1, UROD, UROS, USB1, USF1, USH1C, USH1G, USH2A, USP18, USP7, USP9X, USP9Y, UTS2B, UVSSA, VAC14, VAMP1, VANGL1, VANGL2, VAPB, VARS2, VAX1, VCAN, VCL, VDR, VEGFA, VEGFC, VHL, VIM, VIPAS39, VKORC1, VLDLR, VMA21, VPS11, VPS13A, VPS13B, VPS13C, VPS33A, VPS33B, VPS35, VPS37A, VPS45, VPS53, VRK1, VSX1, VSX2, VWF, WAC, WARS2, WAS, WBSCR16, WBSCR22, WDFY3, WDPCP, WDR11, WDR19, WDR26, WDR34, WDR35, WDR36, WDR4, WDR45, WDR45B, WDR60, WDR62, WDR65, WDR72, WDR73, WDR81, WDR91, WFS1, WIPF1, WISP3, WNK1, WNK4, WNT1, WNT10A, WNT10B, WNT3, WNT4, WNT5A, WNT7A, WNT9B, WRAP53, WRN, WT1, WWOX, XBP1, XDH, XG, XIAP, XIST, XPA, XPC, XPNPEP3, XPO5, XPR1, XRCC2, XRCC3, XRCC4, XYLT1, XYLT2, YAP1, YARS, YARS2, YWHAG, YY1, YY1AP1, ZAP70, ZBTB16, ZBTB18, ZBTB20, ZBTB24, ZC3H14, ZC4H2, ZDHHC15, ZDHHC9, ZEB1, ZEB2, ZFP42, ZFP57, ZFPM2, ZFYVE26, ZFYVE27, ZIC1, ZIC2, ZIC3, ZIC4, ZMPSTE24, ZMYND10, ZMYND11, ZNF141, ZNF335, ZNF365, ZNF407, ZNF408, ZNF423, ZNF469, ZNF513, ZNF526, ZNF592, ZNF644, ZNF687, ZNF711, ZNF750, ZSWIM6

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MMicrocephaly (116 genes)AKT3, ANKLE2, AP4B1, AP4E1, AP4M1, AP4S1, ARCN1, ARFGEF2, ASPM, ATR, ATRX, BPTF, BUB1B, CASC5, CASK, CDK13, CDK5RAP2, CDK6, CDKL5, CDT1, CENPE, CENPJ, CEP135, CEP152, CEP63, CTCF, DNA2, DNM1L, DONSON, DYRK1A, EFTUD2, EIF2S3, EPT1, FDXR, FOXG1, HIST1H4C, IER3IP1, KIF11, KIF14, KLHL7, LAGE3, LARP7, LIG4, MCPH1, MECP2, MED17, MFSD2A, MRE11A, MSMO1, NACC1, NBN, NCAPD2, NCAPD3, NCAPH, NDE1, NHEJ1, NIN, NUP107, NUP188, ORC1, ORC4, ORC6, OSGEP, PAFAH1B1, PCNT, PHC1, PNKP, POGZ, POMT1, PPP1R15B, PQBP1, PTPN23, PUF60, RAB18, RAB3GAP1, RAB3GAP2, RAC1, RARS2, RBBP8, RTTN, RUSC2, SASS6, SLC1A4, SLC25A19, SLC2A1, SLC9A6, STAG1, STAMBP, STIL, TAF2, TBC1D20, TBCD, TCF4, TP53RK, TPRKB, TRAIP, TRAPPC12, TRAPPC6B, TRAPPC9, TRIO, TRIP13, TRIT1, TRMT10A, TSEN2, TSEN34, TSEN54, TUBB2B, TUBGCP6, UBE3A, UNC80, USP18, VRK1, WDR4, WDR62, ZEB2, ZNF335

Mitochondrial- nuclear (218 genes)AARS2, ABAT, ABCB7, ACAD9, ACO2, ADCK3, ADCK4, AFG3L2, AGK, AIFM1, APOA1BP, APOPT1, ATAD3A, ATP5A1, ATP5E, ATPAF2, BCS1L, BOLA3, C10orf2, C11orf83, C12orf65, C1QBP, CARS2, CEP89, CHCHD10, CLPB, CLPP, COA3, COA5, COA6, COQ2, COQ4, COQ6, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6A1, COX6B1, COX7B, COX8A, CYC1, CYCS, DARS2, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNM1L, EARS2, ECHS1, ELAC2, ERCC6L2, ETHE1, FARS2, FASTKD2, FBXL4, FDX1L, FDXR, FH, FLAD1, FOXRED1, FXN, GARS, GFER, GFM1, GFM2, GLRX5, GTPBP3, HARS2, HCCS, HIBCH, HSD17B10, HSPD1, IARS2, IBA57, IDH3B, ISCA2, ISCU, KARS, LARS2, LIAS, LIPT1, LIPT2, LONP1, LRPPRC, LYRM4, LYRM7, MARS2, MDH2, MECR, MFF, MFN2, MGME1, MICU1, MNF1, MPC1, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS23, MRPS34, MRPS7, MTFMT, MTO1, MTPAP, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NUBPL, OPA1, OPA3, PARS2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PET100, PMPCA, PNPLA4, PNPLA8, PNPT1, POLG, POLG2, PPA2, PUS1, QRSL1, RARS2, RMND1, RNASEH1, RRM2B, RTN4IP1, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHD, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC25A1, SLC25A12, SLC25A19, SLC25A26, SLC25A3, SLC25A4, SLC25A42, SLC25A46, SPG7, STAT2, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAZ, TIMM50, TIMM8A, TK2, TMEM126B, TMEM70, TPK1, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TSFM, TTC19, TUFM, TXN2, TYMP, UQCRB, UQCRC2, UQCRQ, VARS2, VPS13C, WARS2, YARS2

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MMitochondrial-nuclear (AD inheritance) (208 genes)AARS2, ABAT, ABCB7, ACAD9, ACO2, ADCK3, ADCK4, AFG3L2, AGK, AIFM1, APOA1BP, APOPT1, ATAD3A, ATP5A1, ATP5E, ATPAF2, BCS1L, BOLA3, C10orf2, C11orf83, C12orf65, CARS2, CEP89, CHCHD10, CLPB, CLPP, COA3, COA5, COA6, COQ2, COQ4, COQ6, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6A1, COX6B1, COX7B, COX8A, CYC1, CYCS, DARS2, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNM1L, EARS2, ECHS1, ELAC2, ERCC6L2, ETHE1, FARS2, FASTKD2, FBXL4, FDX1L, FH, FLAD1, FOXRED1, FXN, GARS, GFER, GFM1, GFM2, GLRX5, GTPBP3, HARS2, HCCS, HIBCH, HSD17B10, HSPD1, IARS2, IBA57, IDH3B, ISCA2, ISCU, KARS, LARS2, LIAS, LIPT1, LONP1, LRPPRC, LYRM4, LYRM7, MARS2, MDH2, MECR, MFF, MFN2, MGME1, MICU1, MNF1, MPC1, MPV17, MRPL12, MRPL3, MRPL44, MRPS16, MRPS22, MRPS23, MRPS7, MTFMT, MTO1, MTPAP, NARS2, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFS1, NFU1, NUBPL, OPA1, OPA3, PARS2, PDHA1, PDHB, PDHX, PDK3, PDP1, PDSS1, PDSS2, PET100, PMPCA, PNPLA4, PNPLA8, PNPT1, POLG, POLG2, PPA2, PUS1, QRSL1, RARS2, RMND1, RNASEH1, RRM2B, RTN4IP1, SARS2, SCO1, SCO2, SDHAF1, SERAC1, SFXN4, SLC19A2, SLC19A3, SLC25A1, SLC25A12, SLC25A19, SLC25A26, SLC25A3, SLC25A4, SLC25A42, SLC25A46, SPG7, STAT2, SUCLA2, SUCLG1, SURF1, TACO1, TARS2, TAZ, TIMM8A, TK2, TMEM126B, TMEM70, TPK1, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TSFM, TTC19, TUFM, TXN2, TYMP, UQCRB, UQCRC2, UQCRQ, VARS2, VPS13C, YARS2

Motor Neuron Disease (MND) (42 genes)AIFM1, ALS2, ANG, ASAH1, ASCC1, ATP7A, BICD2, CHCHD10, CHMP2B, DCTN1, DNAJB2, DYNC1H1, EXOSC8, FIG4, FUS, HNRNPA1, IGHMBP2, LAS1L, MATR3, OPTN, PFN1, PLEKHG5, PRPH, SETX, SIGMAR1, SLC52A1, SLC52A2, SLC52A3, SOD1, SPG11, SPG20, SQSTM1, TARDBP, TBK1, TRIP4, TRPV4, TUBA4A, UBA1, UBQLN2, VAPB, VCP, VRK1

Multiple pterygium syndrome (11 genes)CHRNA1, CHRND, CHRNE, CHRNG, COLQ, DOK7, GLE1, KLHL40, MUSK, RAPSN, RYR1

Muscular dystrophy (37 genes)ACTA1, B3GALNT2, B3GNT1, CHKB, COL12A1, COL4A1, COL6A1, COL6A2, COL6A3, DAG1, DMD, DNAJB6, DOLK, DPM1, DPM2, DPM3, DYSF, FKRP, FKTN, GMPPB, GTDC2, INPP5K, ISPD, ITGA7, LAMA2, LARGE, LMNA, MICU1, POMGNT1, POMT1, POMT2, RYR1, SEPN1, SGK196, SYNE1, TCAP, TMEM5

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MMyopathy (88 genes)ABHD5, ACTA1, ADSSL1, AMPD1, ANO5, ASCC1, ATP2A1, BAG3, BIN1, CASQ1, CCDC78, CFL2, CHST14, CNTN1, COL12A1, COL6A1, COL6A2, COL6A3, CRYAB, DES, DNAJB6, DNM2, FHL1, FKBP14, FLNC, GNE, HADHA, HADHB, HNRNPA1, HRAS, HSPB8, ISCU, ITGA7, KBTBD13, KIF21A, KLHL40, KLHL41, KY, LAMP2, LDB3, LMNA, LMOD3, MEGF10, MICU1, MSTN, MSTO1, MTM1, MYF6, MYH14, MYH2, MYH7, MYL2, MYO18B, MYOT, MYPN, NEB, NEFL, NEK9, OPA1, ORAI1, PGK1, PHOX2A, PNPLA2, POLG2, PTPLA, PTRF, RBCK1, RYR1, SEPN1, SLC18A3, SLC22A5, SLC25A20, SLC25A42, SMCHD1, SPEG, SPTBN4, SQSTM1, STAC3, STIM1, TAZ, TIA1, TNNT1, TNNT3, TPM2, TPM3, TTN, VCP, VMA21

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NNephrolithiasis and Nephrocalcinosis (30 genes)ADCY10, AGXT, APRT, ATP6V0A4, ATP6V1B1, CA2, CASR, CLCN5, CLDN16, CLDN19, CYP24A1, FAM20A, GRHPR, HNF4A, HOGA1, HPRT1, KCNJ1, OCRL, SLC12A1, SLC22A12, SLC26A1, SLC2A9, SLC34A1, SLC34A3, SLC3A1, SLC4A1, SLC7A9, SLC9A3R1, VDR, XDH

Nephrotic Syndrome (46 genes)ACTN4, ADCK3, ALMS1, ANLN, APOL1, ARHGAP24, ARHGDIA, CD2AP, COL4A3, COL4A4, COL4A5, COQ2, COQ6, CRB2, CUBN, DGKE, EMP2, FAT1, INF2, ITGA3, ITGB4, LAGE3, LAMA5, LAMB2, LMNA, LMX1B, MAGI2, MYH9, MYO1E, NPHS1, NPHS2, NUP107, OSGEP, PAX2, PDSS2, PLCE1, PTPRO, SCARB2, SGPL1, SMARCAL1, TP53RK, TPRKB, TRPC6, TTC21B, WDR73, WT1

Neurotransmitter defect (25 genes)ABAT, ALDH5A1, ALDH7A1, ALPL, ARHGEF9, DBH, DDC, GABRA1, GABRB3, GABRD, GABRG2, GCH1, GLRA1, GLRB, GPHN, MAOA, PCBD1, PNPO, PTS, QDPR, SLC25A22, SLC6A3, SLC6A5, SPR, TH

Neutrophil defects (29 genes)ACTB, CEBPE, CLPB, CSF2RA, CSF3R, CTSC, CYBA, CYBB, ELANE, FERMT3, FPR1, G6PC3, GATA2, GFI1, HAX1, ITGB2, JAGN1, LAMTOR2, NCF1, NCF2, NCF4, RAC2, SBDS, SLC35C1, SLC37A4, TAZ, USB1, VPS13B, VPS45

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OOcular and oculocutaneous albinism (18 genes)AP3B1, BLOC1S3, BLOC1S6, C10orf11, DTNBP1, GPR143, HPS1, HPS3, HPS4, HPS5, HPS6, LYST, MC1R, OCA2, SLC24A5, SLC45A2, TYR, TYRP1

Oligodontia (10 genes)AXIN2, EDA, EDAR, EDARADD, IKBKG, KRT17, LRP6, MSX1, PAX9, WNT10A

Optic atrophy (29 genes)ACO2, AFG3L2, AP3B2, ATAD3A, AUH, C12orf65, CCDC88A, CISD2, FDXR, MECR, MFN2, MTPAP, NDUFS1, NR2F1, OPA1, OPA3, PBX1, PLAA, POLG, SLC24A1, SLC25A46, SPG7, TBCD, TIMM50, TIMM8A, TMEM126A, UBA5, UCHL1, WFS1

Osteogenesis imperfecta (18 genes)ALPL, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FKBP10, IFITM5, LEPRE1, LRP5, PLOD2, PLS3, PPIB, SERPINF1, SERPINH1, SP7, TMEM38B, WNT1

Osteopetrosis (21 genes)AMER1, ANKH, CA2, CLCN7, CTSK, FAM20C, FERMT3, IKBKG, LEMD3, LRP5, OSTM1, PLEKHM1, PTH1R, RASGRP2, SNX10, SOST, TCIRG1, TGFB1, TNFRSF11A, TNFSF11, TYROBP

Overgrowth (29 genes)ABCC9, BRWD3, CDKN1C, CHD8, DIS3L2, DNMT3A, EED, EZH2, FIBP, GLI3, GPC3, HIST1H1E, MED12, MTOR, NFIX, NPR3, NSD1, OFD1, PDGFRB, PHF6, PIK3CA, PPP2R5D, PTCH1, PTEN, RNF125, RNF135, SETD2, SUV420H1, TCF20

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PPaediatric cancer (90 genes)ALK, APC, ATM, BAP1, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, CBL, CDC73, CDH1, CDK4, CDKN1C, CDKN2A, CEBPA, DDB2, DICER1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, GATA2, HRAS, KRAS, MAP2K1, MAP2K2, MAX, MEN1, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, NHP2, NOP10, NRAS, PALB2, PAX5, PHOX2B, PMS2, PRKAR1A, PTCH1, PTEN, PTPN11, RAD51C, RAF1, RB1, RECQL4, RET, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SH2B3, SHOC2, SMAD4, SMARCA4, SMARCB1, SOS1, STK11, SUFU, TERT, TMEM127, TP53, TRIP13, TSC1, TSC2, VHL, WRN, WT1, XPA, XPC

Pancreatitis (7 genes)CASR, CFTR, CLDN2, CPA1, CTRC, PRSS1, SPINK1

Parkinson disease (55 genes)AFG3L2, APP, ATP13A2, ATP1A3, C10orf2, C19orf12, C9orf72, CLN3, COASY, CP, CSF1R, DCAF17, DCTN1, DNAJC5, DNAJC6, FBXO7, FMR1, FTL, GCH1, GRN, HTT, KIF5A, LRRK2, LYST, MAPT, MECP2, OPA3, PANK2, PARK2, PARK7, PDGFB, PDGFRB, PINK1, PLA2G6, POLG, PRKRA, PRNP, PSEN1, PTS, RAB39B, SLC20A2, SLC30A10, SLC39A14, SLC6A3, SNCA, SPG11, SPR, SYNJ1, TAF1, TH, TUBB4A, VPS13A, VPS35, WDR45, XPR1

Peripheral neuropathy (80 genes)AARS, AIFM1, ATL1, ATL3, ATP7A, BICD2, BSCL2, CCT5, COX6A1, CTDP1, DCAF8, DCTN1, DHTKD1, DNAJB2, DNM2, DNMT1, DYNC1H1, EGR2, FAM134B, FBLN5, FGD4, FIG4, GAN, GARS, GDAP1, GJB1, GNB4, HADHB, HARS, HINT1, HK1, HSPB1, HSPB3, HSPB8, IGHMBP2, IKBKAP, INF2, KARS, KIF1A, KIF1B, KIF5A, LITAF, LMNA, LRSAM1, MARS, MED25, MFN2, MPZ, MTMR2, MYH14, NDRG1, NEFL, NGF, NTRK1, OPA1, PDK3, PLA2G6, PLEKHG5, PMP22, PRNP, PRPS1, PRX, RAB7A, REEP1, SBF1, SBF2, SCN9A, SETX, SH3TC2, SLC12A6, SLC5A7, SPTLC1, SPTLC2, TFG, TRIM2, TRPV4, VCP, VRK1, WNK1, YARS

Periventricular grey matter heterotopia (6 genes)ARFGEF2, C6orf70, DCHS1, FAT4, FLNA, NEDD4L

Peroxisomal (28 genes)ABCD1, ABCD3, ACBD5, ACOX1, AGPS, AGXT, AMACR, CAT, DNM1L, GNPAT, HSD17B4, PEX1, PEX10, PEX11B, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX26, PEX3, PEX5, PEX6, PEX7, PHYH, SCP2, TRIM37

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PPhagocyte defects (31 genes)ACTB, CEBPE, CLPB, CSF3R, CTSC, CXCR4, CYBA, CYBB, ELANE, FERMT3, FPR1, G6PC3, GATA2, GFI1, HAX1, ITGB2, JAGN1, LAMTOR2, NCF1, NCF2, NCF4, RAC2, SBDS, SLC35C1, SLC37A4, TAZ, USB1, VPS13B, VPS45, WAS, WIPF1

Photosensitivity syndromes (16 genes)ADAR, BLM, DDB2, DHCR7, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, GTF2H5, POLH, TYR, XPA, XPC

Pierre Robin sequence (48 genes)ALX1, ALX3, ALX4, AMER1, BMP2, BMP4, COG1, COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3, DHODH, EDN1, EDNRA, EFNB1, EFTUD2, EIF4A3, FLNA, FOXC2, FOXE1, GNAI3, HOXA2, IRF6, KCNJ2, MED13L, MN1, PGM1, PLCB4, RBM10, RPL11, RPL5, RPS26, RPS28, SATB2, SF3B4, SLC26A2, SNRPB, SPECC1L, TBX1, TBX22, TCOF1, TGDS, TMCO1, TSR2, TXNL4A, ZSWIM6

Polycystic kidney disease AD (5 genes)DNAJB11, GANAB, HNF1B, PKD1, PKD2

Polydactyly (118 genes)AHI1, AKT3, ALMS1, ALX3, ARL6, ARMC8, B9D1, B9D2, BBS1, BBS10, BBS12, BBS2, BBS4, BBS5, BBS7, BBS9, BHLHA9, BMP4, C2CD3, C5orf42, CC2D2A, CCND2, CD96, CENPF, CEP120, CEP164, CEP290, CEP41, CKAP2L, CSPP1, DDX59, DYNC2H1, DYNC2LI1, EBP, EVC, EVC2, FGF10, FGFR1, FGFR2, FGFR3, FRAS1, FREM2, GDF5, GLI2, GLI3, GPC3, GRIP1, HNRNPK, HOXA13, HOXD13, HYLS1, ICK, IFT140, IFT172, IFT27, IFT43, IFT52, IFT80, INPP5E, KIAA0586, KIF7, LBR, LMBR1, LRP4, LZTFL1, MBTPS2, MEGF8, MKKS, MKS1, NEK1, NPHP3, OFD1, PDE6D, PIK3CA, PIK3R2, PITX1, PNPLA6, PORCN, PROM1, RAB23, RBM10, RPGRIP1L, SALL1, SALL4, SC5D, SDCCAG8, SHH, SMO, SMOC1, SPINT2, TBX22, TBX3, TBX5, TCTEX1D2, TCTN2, TCTN3, TFAP2A, TFAP2B, TMEM138, TMEM216, TMEM231, TMEM237, TMEM67, TRAF3IP1, TRIM32, TTC21B, TTC8, TWIST1, UBE3B, USP9X, WDPCP, WDR19, WDR34, WDR35, WDR60, WNT7A, ZNF141, ZSWIM6

Polymicrogyria and Schizencephaly (41 genes)AHI1, AKT3, ARX, BICD2, COL18A1, COL4A1, DYNC1H1, EML1, EMX2, EOMES, FIG4, GPR56, GRIN1, GRIN2B, INTS8, KIAA1279, KIF5C, L1CAM, LAMC3, NDE1, NHEJ1, NSDHL, OCLN, PAX6, PI4KA, PIK3CA, PIK3R2, RAB18, RAB3GAP1, RAB3GAP2, RTTN, SHH, SIX3, SRPX2, TMEM216, TUBA1A, TUBA8, TUBB, TUBB2B, TUBB3, WDR62

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PPredominantly antibody deficiency (32 genes)AICDA, BLNK, BTK, CARD11, CD19, CD79A, CD79B, CD81, CR2, CXCR4, DNMT3B, IGLL1, INO80, MOGS, MS4A1, NFKB1, NFKB2, NFKBID, PIK3CD, PIK3R1, SH2D1A, SP110, TCF3, TNFRSF13B, TNFRSF13C, TNFSF12, TRNT1, TTC37, UNG, WAS, WIPF1, XIAP

Pulmonary Fibrosis (23 genes)ABCA3, AP3B1, ASAH1, CSF2RA, CSF2RB, DKC1, FAM111B, GBA, HPS1, HPS4, ITGA3, NKX2-1, PARN, RTEL1, SFTPA2, SFTPB, SFTPC, SLC34A2, SLC7A7, SMPD1, TERC, TERT, TINF2

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RRadial Ray (33 genes)BRCA2, BRIP1, ERCC4, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, GATA1, PALB2, RAD51C, RPL11, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS28, RPS29, RPS7, SALL1, SALL4, SLX4, TBX3, TBX5

Rasopathy (19 genes)A2ML1, BRAF, CBL, HRAS, KRAS, LZTR1, MAP2K1, MAP2K2, NF1, NRAS, PTPN11, RAF1, RASA2, RIT1, RRAS, SHOC2, SOS1, SOS2, SPRED1

Regression (352 genes)AAAS, AARS2, ABCB7, ABCD1, ABHD12, ACO2, ADAR, ADCK3, AFG3L2, AHI1, ALDH5A1, ALG6, AMACR, ANO10, ANO3, APTX, ARG1, ARL13B, ARSA, ASL, ASPA, ASS1, ATCAY, ATM, ATN1, ATP1A3, ATP2B3, ATP7A, ATP7B, ATP8A2, ATPAF2, BCKDHA, BCKDHB, BCS1L, BTD, C10orf2, C12orf65, C19orf12, C5orf42, CA8, CACNA1A, CACNB4, CAMTA1, CASK, CBS, CC2D2A, CCDC88C, CEP290, CEP41, CHMP1A, CISD2, CIZ1, CLCN2, CLN3, CLN5, CLN6, CLN8, COA5, COASY, COL4A1, COQ2, COQ4, COQ6, COQ9, COX10, COX14, COX15, COX20, COX6B1, CP, CPS1, CSF1R, CSPP1, CST3, CTDP1, CTSA, CTSD, CTSF, CUL4B, CYP27A1, D2HGDH, DARS2, DBT, DCAF17, DDB2, DDC, DKC1, DLAT, DLD, DNAJC19, DNAJC5, DNMT1, DRD2, EEF2, EIF2B1, EIF2B2, EIF2B3, EIF2B4, EIF2B5, ELOVL4, ELOVL5, EPM2A, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, EXOSC3, FA2H, FASTKD2, FBXO7, FDXR, FGF14, FOXG1, FOXRED1, FTL, FUCA1, FUS, FXN, GALC, GAMT, GATM, GBA, GBA2, GBE1, GCDH, GCH1, GCLC, GFAP, GLA, GLB1, GNAL, GNS, GOSR2, GRID2, GRM1, H3F3A, H3F3B, HEXA, HEXB, HGSNAT, HLCS, HMBS, HPRT1, HSD17B4, HTRA1, INPP5E, ITM2B, ITPR1, IVD, KCNA1, KCNC3, KCND3, KCNJ10, KCTD7, KIF1A, KIF7, L2HGDH, LAMA1, LIAS, LMNB1, LRPPRC, LRRK2, MAN2B1, MAPT, MARS2, MCEE, MECP2, MFSD8, MMAA, MMAB, MMACHC, MMADHC, MRE11A, MTHFR, MTPAP, MTTP, MUT, NAGLU, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA2, NDUFA4, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB3, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2,

NEU1, NHLRC1, NOL3, NOP56, NOTCH3, NPC1, NPC2, NPHP1, NUBPL, OFD1,

OPA1, OPHN1, OTC, PANK2, PARK2, PARK7, PAX6, PC, PCCA, PCCB, PDE6D, PDGFB, PDGFRB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PDYN, PET100, PEX7, PHYH, PIK3R5, PLA2G6, PLP1, PMM2, PNKD, PNPLA6, POLG, POLG2, POLR3A, POLR3B, PPT1, PRICKLE1, PRKCG, PRKRA, PRPS1, PRRT2, PSAP, PTPN23, PTS

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RRARS2, RNASEH2A, RNASEH2B, RNASEH2C, RNF216, RPGRIP1L, RRM2B, SACS, SAMHD1, SCARB2, SCN3A, SCO1, SCO2, SEPSECS, SERPINI1, SETX, SGCE, SGSH, SIL1, SLC17A5, SLC19A3, SLC1A3, SLC20A2, SLC25A15, SLC25A4, SLC2A1, SLC30A10, SLC6A19, SLC6A3, SLC6A8, SLC9A6, SPR, SPTBN2, SQSTM1, STUB1, SUCLA2, SUMF1, SURF1, SYNE1, SYNJ1, SYT14, TACO1, TBP, TCF4, TCTN1, TCTN2, TCTN3, TDP1, TGM6, TH, THAP1, TIMM8A, TMEM138, TMEM216, TMEM231, TMEM237, TMEM240, TMEM67, TOR1A, TPK1, TPP1, TRAK1, TRAPPC11, TRAPPC12, TREM2, TREX1, TSEN2, TSEN34, TSEN54, TTBK2, TTC21B, TTPA, TTR, TUBB4A, TYROBP, UBE3A, UBQLN2, UBR4, UBTF, UCHL1, UQCRB, VAC14, VAMP1, VLDLR, VPS53, VRK1, WDR45, WDR81, WFS1, WWOX, XPA, XPC, ZIC1, ZIC4, ZNF423, ZNF592

Renal tubular dysgenesis (4 genes)ACE, AGT, AGTR1, REN

Retinal dystrophy (181 genes)ABCA4, ABCB6, ACBD5, ADAM9, ADIPOR1, AHI1, AIPL1, ALDH1A3, ALMS1, ARHGEF18, ARL2BP, ARL6, ATF6, BEST1, C1QTNF5, C21orf2, C2orf71, C8orf37, CA4, CABP4, CACNA1F, CACNA2D4, CAPN5, CDH23, CDHR1, CEP250, CEP290, CEP78, CERKL, CFI, CHM, CIB2, CLRN1, CNGA1, CNGA3, CNGB1, CNGB3, CNNM4, COL2A1, CRB1, CRX, CST3, CWC27, CX3CR1, CYP4V2, DFNB31, DHDDS, EFEMP1, ELOVL4, ERCC6, EYS, FAM161A, FBLN5, FSCN2, FZD4, GDF3, GDF6, GNAT1, GNAT2, GPR179, GPR98, GRK1, GRM6, GUCA1A, GUCA1B, GUCY2D, HACE1, HARS, HMCN1, HTRA1, IDH3B, IFT172, IMPDH1, IMPG1, IMPG2, INPP5E, IQCB1, ITM2B, KCNJ13, KCNV2, KLHL7, LCA5, LRAT, LRIT3, LRP5, MAK, MERTK, MFRP, MSTO1, MYO7A, NDP, NEK2, NMNAT1, NR2E3, NRL, NYX, OAT, OFD1, OPA1, OPA3, OPN1LW, OPN1MW, OPN1SW, OTX2, PAX6, PCDH15, PDE6A, PDE6B, PDE6C, PDE6G, PDE6H, PDZD7, PEX6, PITPNM3, PLA2G5, PLK1S1, POC1B, PRCD, PROM1, PRPF3, PRPF31, PRPF4, PRPF6, PRPF8, PRPH2, PRSS56, RAB28, RAX2, RBP3, RBP4, RCBTB1, RD3, RDH12, RDH5, REEP6, RGR, RGS9, RGS9BP, RHO, RIMS1, RLBP1, ROM1, RP1, RP1L1, RP2, RP9, RPE65, RPGR, RPGRIP1, RS1, SAG, SEMA4A, SHH, SLC24A1, SLC38A8, SLC7A14, SNRNP200, SPATA7, STRA6, TEAD1, TENM3, TIMP3, TLR4, TMEM98, TOPORS, TRAF3IP1, TRPM1, TSPAN12, TTC8, TTLL5, TUBB4B, TULP1, UNC119, USH1C, USH1G, USH2A, VCAN, VPS13B, VSX2, ZNF408, ZNF513

Rhabdomyolysis (25 genes)ACADL, ACADM, ACADVL, AGL, CAV3, CPT1B, CPT2, ENO3, ETFDH, GAA, GBE1, GYG1, GYS1, ISCU, LDHA, LPIN1, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PYGM, RYR1, TANGO2

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SSevere combined immunodeficiency (absent T, absent B cells) (8 genes)ADA, AK2, DCLRE1C, LIG4, NHEJ1, PRKDC, RAG1, RAG2

Severe combined immunodeficiency (absent T, present B cells) (8 genes)CD247, CD3D, CD3E, CORO1A, IL2RG, IL7R, JAK3, PTPRC

Short QT syndrome (3 genes)KCNH2, KCNJ2, KCNQ1

Short Rib Polydactyly, Jeune asphyxiating thoracic dystrophy (27 genes)C21orf2, C2CD3, CEP120, CSPP1, DYNC2H1, DYNC2LI1, EVC, EVC2, HYLS1, ICK, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, KIAA0586, KIF7, NEK1, OFD1, TCTEX1D2, TTC21B, WDR19, WDR34, WDR35, WDR60

Short long bones with advanced carpal bone age (9 genes)B3GAT3, CANT1, CHST3, COL2A1, FLNA, FLNB, PRG4, SLC26A2, XYLT1

Sick sinus syndrome (2 genes)HCN4, SCN5A

Skeletal dysplasia-fetal (88 genes)AGPS, ALPL, ARSE, BMP1, BMPER, C21orf2, C2CD3, CANT1, CEP120, COL11A1, COL11A2, COL1A1, COL1A2, COL2A1, CREB3L1, CRTAP, CSPP1, DDR2, DHCR7, DLL3, DYNC2H1, DYNC2LI1, EBP, EVC, EVC2, FAM111A, FAM20C, FGFR2, FGFR3, FKBP10, FLNA, FLNB, GDF5, GLI3, GNPAT, HES7, HSPG2, HYLS1, ICK, IFITM5, IFT122, IFT140, IFT172, IFT43, IFT52, IFT80, IFT81, INPPL1, KIAA0586, KIF7, LBR, LEPRE1, LFNG, LIFR, LRP5, MESP2, MMP13, MMP9, NEK1, NKX3-2, NSDHL, OFD1, PEX7, PLOD2, PLS3, PPIB, PTH1R, RMRP, RNU4ATAC, SBDS, SERPINF1, SERPINH1, SLC26A2, SLC35D1, SOX9, SP7, TBX6, TCTEX1D2, TCTN3, TMEM38B, TRIP11, TRPV4, TTC21B, WDR19, WDR34, WDR35, WDR60, WNT1

Spastic Paraplegia-paediatric (40 genes)AFG3L2, AP4B1, AP4M1, ATAD3A, ATL1, B4GALNT1, BSCL2, C12orf65, CYP7B1, DDHD2, EPT1, ERLIN2, FA2H, GBA2, GJC2, HSPD1, KIAA0196, KIDINS220, KIF1A, KIF1C, KIF5A, L1CAM, NIPA1, NKX6-2, NT5C2, PLP1, REEP1, SACS, SERAC1, SLC33A1, SPAST, SPG11, SPG20, SPG21, SPG7, UCHL1, VAMP1, WDR45B, ZFYVE26, ZFYVE27

Spondylocostal dysostosis (6 genes)DLL3, HES7, LFNG, MESP2, RIPPLY2, TBX6

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SStickler syndrome and Vitreoretinopathy (21 genes)ATOH7, BEST1, CAPN5, COL11A1, COL11A2, COL18A1, COL2A1, COL9A1, COL9A2, CTNNB1, FZD4, GZF1, KCNJ13, KIF11, LRP5, NDP, NR2E3, RS1, TSPAN12, VCAN, ZNF408

Storage disorder (71 genes)AGA, AGL, ALDOA, ARSA, ARSB, ASAH1, ATP13A2, CLCN6, CLN3, CLN5, CLN6, CLN8, CTSA, CTSD, CTSF, DNAJC5, ENO3, EPM2A, FUCA1, G6PC, GAA, GALC, GALNS, GBA, GBE1, GLA, GLB1, GNPTAB, GNPTG, GNS, GRN, GUSB, GYG1, GYS1, GYS2, HEXA, HEXB, HGSNAT, HYAL1, IDS, IDUA, KCTD7, LAMP2, LDHA, LIPA, MAN2B1, MANBA, MCOLN1, MFSD8, NAGA, NAGLU, NEU1, NPC1, NPC2, PFKM, PGAM2, PGK1, PGM1, PHKA2, PPT1, PRKAG2, PSAP, PYGL, PYGM, SGSH, SLC17A5, SLC2A2, SLC37A4, SMPD1, TPP1, VPS33A

Susceptibility to fungal infections (7 genes)CARD9, IL17F, IL17RA, IL17RC, RORC, STAT1, TRAF3IP2

Susceptibility to viral infections (12 genes)CXCR4, FCGR3A, IRF7, STAT1, STAT2, TBK1, TICAM1, TLR3, TMC6, TMC8, TRAF3, UNC93B1

Systemic autoinflammatory disease, periodic fever (28 genes)ADAM17, AP1S3, CARD14, CECR1, COPA, ELANE, FAM105B, IL1RN, IL36RN, LPIN2, MEFV, MVK, NLRC4, NLRP12, NLRP3, NOD2, PLCG2, PSMA3, PSMB4, PSMB8, PSMB9, PSTPIP1, RBCK1, SH3BP2, SLC29A3, TNFAIP3, TNFRSF1A, TRNT1

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TTuberous sclerosis, cortical dysplasia and hemimegalencephaly (10 genes)AKT3, BRAF, DEPDC5, MTOR, NPRL2, NPRL3, PTEN, STRADA, TSC1, TSC2

Tubulinopathies (8 genes)TUBA1A, TUBA8, TUBB, TUBB2A, TUBB2B, TUBB3, TUBG1, TUBGCP4

Tubulointerstitial kidney disease-AD (5 genes)HNF1B, MUC1, REN, SEC61A1, UMOD

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VVentricular fibrillation (1 gene)SCN5A

Vitamin C pathway (15 genes)GLRX, GLRX2, GLRX3, GLRX5, GSTO1, GSTO2, PDIA2, PDIA5, SLC2A10, SLC2A3, SLC2A4, SLC2A4RG, SLC2A8, SLC3A1, SLC3A2