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Mitochondrial Gene TableGene Name OMIM # Associated Disease(s) or Phenotype(s) Inheritance Pattern
AARS 601065 Axonal Charcot-Marie-Tooth disease type 2 (CMT2N); Early infantile epileptic encephalopathy-29 (EIEE29)
Autosomal dominant and Autosomal recessive
AARS2 612035 Combined oxidative phosphorylation deficiency 8; Progressive leukoencephalopathy (LKENP) with ovarian failure
Autosomal recessive
ABCB11 603201 Benign recurrent intrahepatic cholestasis-2 (BRIC2); Progressive familial intrahepatic cholestasis-2 (PFIC2)
Autosomal recessive
ABCB4 171060 Intrahepatic cholestasis of pregnancy-3 (ICP3); Progressive familial intrahepatic cholestasis-3 (PFIC3); Gallbladder disease 1
Autosomal dominant and Autosomal recessive
ABCB7 300135 Sideroblastic anemia with spinocerebellar ataxia X-linked
ABCD4 603214 Methylmalonic aciduria and homocystinuria, cblJ type Autosomal recessive
ACAD9 611103 Mitochondrial complex I deficiency due to ACAD9 deficiency Autosomal recessive
ACADM 607008 Medium-chain acyl-CoA dehydrogenase deficiency Autosomal recessive
ACADVL 609575 Very long-chain acyl-CoA dehydrogenase deficiency Autosomal recessive
ACO2 100850 Optic atrophy 8; Infantile cerebellar-retinal degeneration Autosomal recessive
ACSF3 614245 Combined malonic and methylmalonic aciduria Autosomal recessive
ADCK3 606980 Primary coenzyme Q10 deficiency-4 (COQ10D4) Autosomal recessive
ADCK4 615567 Nephrotic syndrome type 9 (NPHS9) Autosomal recessive
AFG3L2 604581 Spinocerebellar ataxia-28 (SCA28); Autosomal recessive spastic ataxia-5 (SPAX5)
Autosomal dominant and Autosomal recessive
AGK 610345 Autosomal recessive cataract-38 (CTRCT38); Sengers syndrome or cardiomyopathic mitochondrial DNA depletion syndrome-10 (MTDPS10)
Autosomal recessive
AGL 610860 Glycogen storage disease IIIa; Glycogen storage disease IIIb Autosomal recessive
AIFM1 300169 Combined oxidative phosphorylation deficiency-6 (COXPD6); Cowchock syndrome (COWCK) or X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX4)
X-linked
ALAS2 301300 X-linked erythropoietic protoporphyria (XLEPP); X-linked sideroblastic anemia (XLSA)
X-linked
ALDOA 103850 Glycogen storage disease XII (GSD12) or aldolase A deficiency Autosomal recessive
ALDOB 612724 Hereditary fructose intolerance Autosomal recessive
ALG1 605907 Congenital disorder of glycosylation type Ik Autosomal recessive
ALG11 613666 Congenital disorder of glycosylation type Ip (CDG1P) Autosomal recessive
ALG13 300776 Congenital disorder of glycosylation type Is (CDG1S; CDGIs) X-linked
ALG2 607905 Congenital disorder of glycosylation type Ii; Congenital myasthenic syndrome-14 (CMS14)
Autosomal recessive
ALG3 608750 Congenital disorder of glycosylation type Id (CDG Id, CDG1D) Autosomal recessive
ALG6 604566 Congenital disorder of glycosylation type Ic (CDG Ic, CDG1C) Autosomal recessive
ALG9 606941 Congenital disorder of glycosylation type Il Autosomal recessive
Mitochondrial Gene Table
2
Gene Name OMIM # Associated Disease(s) or Phenotype(s) Inheritance Pattern
AMACR 604489 Alpha-methylacyl-CoA racemase deficiency; Congenital bile acid synthesis defect 4
Autosomal recessive
APOPT1 616003 Mitochondrial complex IV deficiency Autosomal recessive
APTX 606350 Early-onset ataxia with oculomotor apraxia and hypoalbuminemia
Autosomal recessive
ARG1 608313 Argininemia Autosomal recessive
ASL 608310 Argininosuccinic aciduria Autosomal recessive
ASS1 603470 Classic citrullinemia Autosomal recessive
ATP5A1 164360 Mitochondrial complex V deficiency nuclear type 4 (MC5DN4); Combined oxidative phosphorylation deficiency-22 (COXPD22)
Autosomal recessive
ATP5E 606153 Mitochondrial complex V (ATP synthase) deficiency nuclear type 3 (MC5DN3)
Autosomal recessive
ATP7B 606882 Wilson disease Autosomal recessive
ATP8B1 602397 Intrahepatic cholestasis of pregnancy-1 (ICP1); Progressive familial intrahepatic cholestasis-1 (PFIC1); Benign recurrent intrahepatic cholestasis-1 (BRIC1)
Autosomal dominant and Autosomal recessive
ATPAF2 608918 Mitochondrial complex V (ATP synthase) deficiency nuclear type 1 (MC5DN1)
Autosomal recessive
AUH 600529 3-Methylglutaconic aciduria type I (MCGA1) Autosomal recessive
B4GALT1 137060 Congenital disorder of glycosylation type IId (CDG IId, CDG2D) Autosomal recessive
BCKDHA 608348 Maple syrup urine disease (MSUD) Autosomal recessive
BCKDHB 248611 Maple syrup urine disease (MSUD) Autosomal recessive
BCS1L 603647 Mitochondrial complex III deficiency nuclear type 1 (MC3DN1); Bjornstad syndrome (BJS); GRACILE syndrome; Leigh syndrome
Autosomal recessive
BOLA3 613183 Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) Autosomal recessive
C10orf2 606075 Autosomal dominant progressive external ophthalmoplegia (adPEO) with mitochondrial DNA (mtDNA) deletions-3 (PEOA3); Mitochondrial DNA depletion syndrome-7 (MTDPS7); Perrault syndrome-5 (PRLTS5)
Autosomal dominant and Autosomal recessive
C12orf65 613541 Autosomal recessive spastic paraplegia-55 (SPG55); Combined oxidative phosphorylation deficiency-7 (COXPD7)
Autosomal recessive
C19orf12 614297 Neurodegeneration with brain iron accumulation-4 (NBIA4); Autosomal recessive spastic paraplegia-43 (SPG43)
Autosomal recessive
CA5A* 114761 Hyperammonemia due to carbonic anhydrase VA deficiency (CA5AD)
Autosomal recessive
CARS2 612800 Progressive myoclonic epilepsy1 Autosomal recessive
CHKB 612395 Megaconial type congenital muscular dystrophy Autosomal recessive
CISD2 611507 Wolfram syndrome-2 (WFS2) Autosomal recessive
CLPB 616254 3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN) or 3-methylglutaconic aciduria type VII (MGCA7)
Autosomal recessive
COA5 613920 Mitochondrial complex IV deficiency Autosomal recessive
COA6 614772 Hypertrophic cardiomyopathy and complex IV deficiency 2, 3, 4 Autosomal recessive
Mitochondrial Gene Table
3
Gene Name OMIM # Associated Disease(s) or Phenotype(s) Inheritance Pattern
COASY 609855 Neurodegeneration with brain iron accumulation-6 (NBIA6) Autosomal recessive
COG4 606976 Congenital disorder of glycosylation type IIj (CDG IIj, CDG2J) Autosomal recessive
COG5 606821 Congenital disorder of glycosylation type IIi (CDG IIi, CDG2H) Autosomal recessive
COG6 606977 Congenital disorder of glycosylation type IIl (CDG2L); Shaheen syndrome (SHNS)
Autosomal recessive
COG7 606978 Congenital disorder of glycosylation type IIe (CDG2E) Autosomal recessive
COG8 606979 Congenital disorder of glycosylation type IIh (CDG IIh, CDG2H) Autosomal recessive
COQ2 609825 Primary coenzyme Q10 deficiency-1 (COQ10D1) Autosomal recessive
COQ4 612898 Primary coenzyme Q10 deficiency-7 (COQ10D7) Autosomal recessive
COQ6 614647 Primary coenzyme Q10 deficiency-6 (COQ10D6) Autosomal recessive
COQ9 612837 Primary coenzyme Q10 deficiency-5 (COQ10D5) Autosomal recessive
COX10 602125 Mitochondrial complex IV deficiency; Leigh syndrome due to mitochondrial complex IV deficiency
Autosomal recessive
COX14 614478 Mitochondrial complex IV deficiency Autosomal recessive
COX15 603646 Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase (COX) deficiency (CEMCOX2); Leigh syndrome due to cytochrome c oxidase deficiency
Autosomal recessive
COX20 614698 Mitochondrial complex IV deficiency Autosomal recessive
COX4I2 607976 Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
Autosomal recessive
COX6A1 602072 Autosomal recessive intermediate Charcot-Marie-Tooth disease D (CMTRID)
Autosomal recessive
COX6B1 124089 Mitochondrial complex IV deficiency Autosomal recessive
COX7B 300885 Linear skin defects with multiple congenital anomalies-2 (LSDMCA2)
X-linked
CPS1 608307 Carbamoylphosphate synthetase I deficiency Autosomal recessive
CPT1A 600528 Carnitine palmitoyltransferase IA deficiency Autosomal recessive
CPT2 600650 Carnitine palmitoyltransferase II deficiency Autosomal recessive
CYC1 123980 Mitochondrial complex III deficiency nuclear type 6 (MC3DN6) Autosomal recessive
DARS 603084 Hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL)
Autosomal recessive
DARS2 610956 Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
Autosomal recessive
DBT 248610 Maple syrup urine disease (MSUD) Autosomal recessive
DDHD1 614603 Autosomal recessive spastic paraplegia-28 (SPG28) Autosomal recessive
DDHD2 615003 Autosomal recessive spastic paraplegia-54 (SPG54) Autosomal recessive
DDOST 602202 Congenital disorder of glycosylation type I Autosomal recessive
DGUOK 601465 Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) Autosomal recessive
DLAT 608770 Pyruvate dehydrogenase E2 deficiency Autosomal recessive
DLD 238331 Dihydrolipoamide dehydrogenase deficiency (DLDD) Autosomal recessive
DMGDH 605849 Dimethylglycine dehydrogenase deficiency Autosomal recessive
Mitochondrial Gene Table
4
Gene Name OMIM # Associated Disease(s) or Phenotype(s) Inheritance Pattern
DNA2 601810 Autosomal dominant progressive external ophthalmoplegia-6 (PEOA6); Seckel syndrome-8 (SCKL8)
Autosomal dominant and Autosomal recessive
DNAJC19 608977 3-Methylglutaconic aciduria type V (MGCA5) or Dilated cardiomyopathy with ataxia
Autosomal recessive
DNM1L 603850 Lethal encephalopathy due to defective mitochondrial and peroxisomal fission (EMPF)
Autosomal dominant
DNM2 602378 Autosomal dominant centronuclear myopathy-1 (CNM1); Dominant intermediate Charcot-Marie-Tooth (CMT); Axonal Charcot-Marie-Tooth disease, type 2M; Lethal congenital contracture syndrome-5 (LCCS5)
Autosomal dominant and Autosomal recessive
DOLK 610746 Congenital disorder of glycosylation type Im (CDG1M) Autosomal recessive
DPAGT1 191350 Congenital disorder of glycosylation type Ij (CDG Ij, CDG1J); Congenital myasthenic syndrome-13 (CMS13)
Autosomal recessive
DPM1 603503 Congenital disorder of glycosylation type Ie Autosomal recessive
DPM3 605951 Congenital disorder of glycosylation type Io (CDG1O) Autosomal recessive
EARS2 612799 Combined oxidative phosphorylation deficiency-12 (COXPD12) Autosomal recessive
ECHS1 602292 Mitochondrial short-chain enoyl-CoA hydratase-1 deficiency (ECHS1D)
Autosomal recessive
ELAC2 605367 Combined oxidative phosphorylation deficiency-17 (COXPD17) Autosomal recessive
ENO3 131370 Glycogen storage disease XIII (GSD13) Autosomal recessive
ETFA 608053 Glutaric aciduria II Autosomal recessive
ETFB 130410 Glutaric aciduria II Autosomal recessive
ETFDH 231675 Glutaric aciduria II Autosomal recessive
ETHE1 608451 Ethylmalonic encephalopathy (EE) Autosomal recessive
FAH 613871 Tyrosinemia type I (TYRSN1) Autosomal recessive
FARS2 611592 Combined oxidative phosphorylation deficiency-14 (COXPD14) Autosomal recessive
FASTKD2 612322 Mitochondrial complex IV deficiency Autosomal recessive
FBP1 611570 Fructose-1,6-bisphosphatase deficiency (FBP1D) Autosomal recessive
FBXL4 605654 Encephalomyopathic mitochondrial DNA depletion syndrome-13 (MTDPS13)
Autosomal recessive
FDX1L 614585 Mitochondrial muscle myopathy 5 Autosomal recessive
FH 136850 Fumarase deficiency (FMRD); Hereditary leiomyomatosis and renal cell cancer (HLRCC)
Autosomal recessive and Autosomal dominant
FLAD1 610595 Muscle defects with respiratory insufficiency Autosomal recessive
FOXRED1 613622 Leigh syndrome due to mitochondrial complex I deficiency; Mitochondrial complex I deficiency
Autosomal recessive
G6PC 613742 Glycogen storage disease Ia (GSD1A) Autosomal recessive
GAA 606800 Glycogen storage disease II (GSD2) or Pompe disease Autosomal recessive
GAMT 601240 Cerebral creatine deficiency syndrome 2 (CCDS2) Autosomal recessive
GARS 600287 Charcot-Marie-Tooth disease type 2D (CMT2D); Distal hereditary motor neuropathy type VA (HMN5A)
Autosomal dominant
GATM 602360 Cerebral creatine deficiency syndrome 3 (CCDS3) Autosomal recessive
Mitochondrial Gene Table
5
Gene Name OMIM # Associated Disease(s) or Phenotype(s) Inheritance Pattern
GBE1 607839 Glycogen storage disease IV Autosomal recessive
GCDH 608801 Glutaric acidemia I Autosomal recessive
GFER 600924 Progressive mitochondrial myopathy with congenital cataract, hearing loss and developmental delay
Autosomal recessive
GFM1 606639 Combined oxidative phosphorylation deficiency 1 Autosomal recessive
GFM2 606544 Leigh syndrome Autosomal recessive
GLRX5 609588 Pyridoxine-refractory sideroblastic anemia Autosomal recessive
GMPPA 615495 Alacrima, achalasia, and mental retardation syndrome (AAMR) Autosomal recessive
GSS 601002 Glutathione synthetase deficiency (GSSD) Autosomal recessive
GTPBP3 608536 Combined oxidative phosphorylation deficiency 23 (COXPD23) Autosomal recessive
GYG1 603942 Glycogen storage disease XV (GSD15) Autosomal recessive
GYG2 300198 Leigh syndrome X-linked
GYS1 138570 Glycogen storage disease 0, muscle (GSD0B) Autosomal recessive
GYS2 138571 Glycogen storage disease 0, liver (GSD0A) Autosomal recessive
HADHA 600890 Long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency; Mitochondrial trifunctional protein deficiency (MTPD)
Autosomal recessive
HADHB 143450 Mitochondrial trifunctional protein deficiency (MTPD) Autosomal recessive
HARS2 600783 Perrault syndrome 2 Autosomal recessive
HCFC1 300019 Methylmalonic acidemia and hyperhomocysteinemia, cblX type X-linked
HIBCH 610690 3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCH) Autosomal recessive
HLCS 609018 Holocarboxylase synthetase deficiency Autosomal recessive
HMGCL 613898 HMG-CoA lyase deficiency Autosomal recessive
HMGCS2 600234 HMG-CoA synthase-2 deficiency (HMGCS2D) Autosomal recessive
HSD17B10 300256 17-beta-hydroxysteroid dehydrogenase X deficiency X-linked
HSPD1 118190 Autosomal dominant spastic paraplegia 13; Hypomyelinating leukodystrophy 4
Autosomal dominant and Autosomal recessive
IARS2 612801 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia
Autosomal recessive
IBA57 615316 Autosomal recessive spastic paraplegia 74 (SPG74); Multiple mitochondrial dysfunctions syndrome (MMDS3)
Autosomal recessive
ISCA2 615317 Multiple mitochondrial dysfunctions syndrome 4 (MMDS4) Autosomal recessive
ISCU 611911 Hereditary myopathy with lactic acidosis (HML) Autosomal recessive
IVD 607036 Isovaleric acidemia Autosomal recessive
LAMP2 309060 Danon disease X-linked
LARS 151350 Infantile liver failure syndrome 1 Autosomal recessive
LARS2 604544 Perrault syndrome 4 (PRLTS4) Autosomal recessive
LDHA 150000 Glycogen storage disease XI (GSD11) Autosomal recessive
LIAS 607031 Pyruvate dehydrogenase lipoic acid synthetase deficiency (PDHLD)
Autosomal recessive
LIPT1 610284 Lipoyltransferase 1 deficiency (LIPT1) Autosomal recessive
Mitochondrial Gene Table
6
Gene Name OMIM # Associated Disease(s) or Phenotype(s) Inheritance Pattern
LMBRD1 612625 Methylmalonic aciduria and homocystinuria, cblF type Autosomal recessive
LRPPRC 607544 Leigh syndrome, French-Canadian type (LSFC) Autosomal recessive
LYRM4 613311 Combined oxidative phosphorylation deficiency 19 (COXPD19) Autosomal recessive
LYRM7 615831 Mitochondrial complex III deficiency, nuclear type 8 Autosomal recessive
MARS 156560 Charcot-Marie-Tooth disease, axonal, type 2U; Interstitial lung and liver disease
Autosomal dominant and Autosomal recessive
MARS2 609728 Combined oxidative phosphorylation deficiency 25; Spastic ataxia 3
Autosomal recessive
MCCC1 609010 3-Methylcrotonyl-CoA carboxylase (3-MCC) deficiency Autosomal recessive
MCCC2 609014 3-Methylcrotonyl-CoA carboxylase (3-MCC) deficiency Autosomal recessive
MCEE 608419 Methylmalonyl-CoA epimerase deficiency Autosomal recessive
MFF 614785 Mitochondrial fission factor (MFF) Autosomal recessive
MFN2 608507 Charcot-Marie-Tooth disease, type2A2; Hereditary motor and sensory neuropathy VI
Autosomal dominant and Autosomal recessive
MGAT2 602616 Congenital disorder of glycosylation, type IIa Autosomal recessive
MGME1 615076 Mitochondrial DNA depletion syndrome 11 Autosomal recessive
MICU1 605084 Myopathy with extrapyramidal signs (MPXPS) Autosomal recessive
MLYCD 606761 Malonyl-CoA decarboxylase deficiency Autosomal recessive
MMAA 607481 Methylmalonic acidaemia, cblA type Autosomal recessive
MMAB 607568 Methylmalonic acidaemia, cblB type Autosomal recessive
MMACHC 609831 Methylmalonic aciduria and homocystinuria, cblC type Autosomal recessive
MMADHC 611935 Methylmalonic aciduria and homocystinuria, cblD type Autosomal recessive
MOGS 601336 Congenital disorder of glycosylation, type IIb (CDG2B) Autosomal recessive
MPC1 614738 Mitochondrial pyruvate carrier deficiency Autosomal recessive
MPDU1 604041 Congenital disorder of glycosylation type If (CDG1F) Autosomal recessive
MPI 154550 Congenital disorder of glycosylation type Ib (CDG1B) Autosomal recessive
MPV17 137960 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) (MTDPS6)
Autosomal recessive
MRPL12 602375 Mitochondrial ribosomal protein L12 Autosomal recessive
MRPL3 607118 Combined oxidative phosphorylation deficiency 9 (COXPD9) Autosomal recessive
MRPL44 611849 Combined oxidative phosphorylation deficiency 16 (COXPD16) Autosomal recessive
MRPS16 609204 Combined oxidative phosphorylation deficiency 2 (COXPD2) Autosomal recessive
MRPS22 605810 Combined oxidative phosphorylation deficiency 5 (COXPD5) Autosomal recessive
MRPS7 611974 Mitochondrial ribosomal protein S7 (MRPS7) Autosomal recessive
MTFMT 611766 Combined oxidative phosphorylation deficiency 15 (COXPD15) Autosomal recessive
MTO1 614667 Combined oxidative phosphorylation deficiency 10 (COXPD10) Autosomal recessive
MTPAP 613669 Spastic ataxia 4 (SPAX4) Autosomal recessive
MTR 156570 Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG)
Autosomal recessive
Mitochondrial Gene Table
7
Gene Name OMIM # Associated Disease(s) or Phenotype(s) Inheritance Pattern
MTRR 602568 Homocystinuria-megaloblastic anemia, cbl E type (HMAE) Autosomal recessive
MUT 609058 Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
Autosomal recessive
NADK2 615787 2,4-dienoyl-CoA reductase deficiency (DECRD) Autosomal recessive
NAGS 608300 N-acetylglutamate synthase deficiency Autosomal recessive
NARS2 612803 Combined oxidative phosphorylation deficiency 24 (COXPD24) Autosomal recessive
NDUFA1 300078 Mitochondrial complex I deficiency X-linked
NDUFA10 603835 Leigh syndrome Autosomal recessive
NDUFA11 612638 Mitochondrial complex I deficiency Autosomal recessive
NDUFA12 614530 Leigh syndrome due to mitochondrial complex I deficiency Autosomal recessive
NDUFA2 602137 Leigh syndrome due to mitochondrial complex I deficiency Autosomal recessive
NDUFA4 603833 Cytochrome c oxidase deficiency Autosomal recessive
NDUFA9 603834 Leigh syndrome due to mitochondrial complex I deficiency Autosomal recessive
NDUFAF1 606934 Mitochondrial complex I deficiency Autosomal recessive
NDUFAF2 609653 Leigh syndrome; Mitochondrial complex I deficiency Autosomal recessive
NDUFAF3 612911 Mitochondrial complex I deficiency Autosomal recessive
NDUFAF4 611776 Mitochondrial complex I deficiency Autosomal recessive
NDUFAF5 612360 Mitochondrial complex I deficiency Autosomal recessive
NDUFAF6 (C8ORF38) 612392 Leigh syndrome due to mitochondrial complex I deficiency Autosomal recessive
NDUFAF7 615898 Mitochondrial complex I deficiency Autosomal recessive
NDUFB3 603839 Mitochondrial complex I deficiency Autosomal recessive
NDUFB9 601445 Mitochondrial Complex I deficiency Autosomal recessive
NDUFS1 157655 Mitochondrial complex I deficiency Autosomal recessive
NDUFS2 602985 Mitochondrial complex I deficiency Autosomal recessive
NDUFS3 603846 Mitochondrial complex I deficiency Autosomal recessive
NDUFS4 602694 Leigh syndrome; Mitochondrial complex I deficiency Autosomal recessive
NDUFS6 603848 Mitochondrial complex I deficiency Autosomal recessive
NDUFS7 601825 Leigh syndrome Autosomal recessive
NDUFS8 602141 Leigh syndrome due to mitochondrial complex I deficiency Autosomal recessive
NDUFV1 161015 Mitochondrial complex I deficiency Autosomal recessive
NDUFV2 600532 Mitochondrial complex I deficiency Autosomal recessive
NFS1 603485 Mitochondrial complex II/III deficiency, infantile Autosomal recessive
NFU1 608100 Multiple mitochondrial dysfunctions syndrome 1 (MMDS1) Autosomal recessive
NGLY1 610661 Congenital disorder of deglycosylation Autosomal recessive
NR2F1 132890 Bosch-Boonstra-Schaaf optic atrophy syndrome Autosomal dominant
NUBPL 613621 Mitochondrial complex I deficiency Autosomal recessive
OPA1 605290 Optic atrophy 1 (OPA1); Optic atrophy plus syndrome Autosomal dominant
Mitochondrial Gene Table
8
Gene Name OMIM # Associated Disease(s) or Phenotype(s) Inheritance Pattern
OPA3 606580 Optic atrophy 3 with cataracts (OPA3); 3-Methylglutaconic aciduria type III
Autosomal dominant and Autosomal recessive
OTC 300461 Ornithine transcarbamylase (OTC) deficiency X-linked
PARS2 612036 Alpers syndrome Autosomal recessive
PC 608786 Pyruvate carboxylase deficiency Autosomal recessive
PCCA 232000 Propionic acidaemia Autosomal recessive
PCCB 232050 Propionic acidaemia Autosomal recessive
PDHA1 300502 Pyruvate dehydrogenase E1-alpha deficiency X-linked
PDHB 179060 Pyruvate dehydrogenase E1-beta deficiency Autosomal recessive
PDHX 608769 Lacticacidemia due to PDX1 deficiency Autosomal recessive
PDP1 605993 Pyruvate dehydrogenase phosphatase deficiency Autosomal recessive
PDSS1 607429 Primary coenzyme Q10 deficiency-2 (COQ10D2) Autosomal recessive
PDSS2 610564 Primary coenzyme Q10 deficiency-3 (COQ10D3) Autosomal recessive
PET100 614770 Mitochondrial complex IV deficiency Autosomal recessive
PFKM 610681 Glycogen storage disease VII (GSD7) Autosomal recessive
PGAM2 612931 Glycogen storage disease X (GSD10) Autosomal recessive
PGM1 171900 Congenital disorder of glycosylation, type It (CDG1T) Autosomal recessive
PHKA1 311870 Glycogen storage disease IXd (GDS9D) X-linked
PHKA2 300798 Glycogen storage disease type IXa (GSD9A1); Glycogen storage disease type IXa2 (GSD9A2)
X-linked
PHKB 172490 Glycogen storage disease type IXb (GSD9B) Autosomal recessive
PHKG2 172471 Glycogen storage disease IXc (GSD9C) Autosomal recessive
PMM2 601785 Congenital disorder of glycosylation type Ia (CDG Ia, CDG1A) Autosomal recessive
PNPT1 610316 Combined oxidative phosphorylation deficiency 13 (COXPD13); Autosomal recessive deafness 70 (DFNB70)
Autosomal recessive
POLG 174763 Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia, autosomal recessive; Progressive external ophthalmoplegia, autosomal dominant
Autosomal recessive and Autosomal dominant
POLG2 604983 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 (PEOA4)
Autosomal dominant
PRKAG2 602743 Hypertrophic cardiomyopathy 6; Lethal congenital glycogen storage disease of heart; Wolff-Parkinson-White syndrome
Autosomal dominant
PRPS1 311850 Arts syndrome; X-linked recessive Charcot-Marie-Tooth disease-5 (CMTX5); X-linked Deafness 1(DFNX1); Phosphoribosylpyrophosphate synthetase I superactivity
X-linked
PTRH2 608625 Infantile-onset multisystem neurologic, endocrine, and pancreatic disease (IMNEPD)
Autosomal recessive
PUS1 608109 Myopathy, lactic acidosis, and sideroblastic anemia-1 (MLASA1) Autosomal recessive
PYGM 608455 Glycogen storage disease type V (GSD5) or McArdle disease Autosomal recessive
Mitochondrial Gene Table
9
Gene Name OMIM # Associated Disease(s) or Phenotype(s) Inheritance Pattern
QARS 603727 Progressive microcephaly with seizures and cerebral and cerebellar atrophy (MSCCA)
Autosomal recessive
RANBP2 601181 Infection-induced acute encephalopathy-3 (IIAE3) Autosomal dominant
RARS 107820 Hypomyelinating leukodystrophy-9 (HLD9) Autosomal recessive
RARS2 611524 Pontocerebellar hypoplasia type 6 (PCH6) Autosomal recessive
REEP1 609139 Distal hereditary motor neuronopathy type VB (HMN5B); Autosomal dominant spastic paraplegia 31 (SPG31)
Autosomal dominant
RFT1 611908 Congenital disorder of glycosylation type In (CDG In, CDG1N) Autosomal recessive
RMND1 614917 Combined oxidative phosphorylation deficiency 11 (COXPD11) Autosomal recessive
RRM2B 604712 Mitochondrial DNA depletion syndrome 8A (MTDPS8A); Mitochondrial DNA depletion syndrome 8B (MTDPS8B); Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions-5 (PEOA5)
Autosomal recessive and Autosomal dominant
SARS2 612804 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome (HUPRAS)
Autosomal recessive
SCO1 603644 Cytochrome c oxidase deficiency; Infantile encephalopathy Autosomal recessive
SCO2 604272 Fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency-1 (CEMCOX1)
Autosomal recessive
SDHA* 600857 Mitochondrial complex II deficiency; Leigh syndrome; Hereditary Paraganglioma and Pheochromocytoma Syndrome (PGL/PCC)
Autosomal recessive and Autosomal dominant
SDHAF1 612848 Mitochondrial complex II deficiency Autosomal recessive
SERAC1 614725 3-Methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL)
Autosomal recessive
SFXN4 615564 Combined oxidative phosphorylation deficiency-18 (COXPD18) Autosomal recessive
SLC19A2 603941 Thiamine-responsive megaloblastic anemia syndrome (TRMA) Autosomal recessive
SLC19A3 606152 Biotin-responsive basal ganglia disease (BBGD); Thiamine metabolism dysfunction syndrome-2 (THMD2)
Autosomal recessive
SLC22A5 603377 Primary/systemic carnitine deficiency (CDSP) Autosomal recessive
SLC25A1 190315 Combined D-2- and L-2-hydroxyglutaric aciduria Autosomal recessive
SLC25A13 603859 Citrullinemia type II (CTLN2); Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD)
Autosomal recessive
SLC25A15 603861 Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome
Autosomal recessive
SLC25A19 606521 Thiamine metabolism dysfunction syndrome-3 (THMD3); Thiamine metabolism dysfunction syndrome-4 (THMD4); Amish lethal microcephaly
Autosomal recessive
SLC25A20 613698 Carnitine-acylcarnitine translocase deficiency Autosomal recessive
SLC25A22 609302 Early infantile epileptic encephalopathy-3 (EIEE3) Autosomal recessive
SLC25A3 600370 Mitochondrial phosphate carrier deficiency Autosomal recessive
SLC25A38 610819 Autosomal recessive pyridoxine-refractory sideroblastic anemia Autosomal recessive
SLC25A4 103220 Mitochondrial DNA depletion syndrome-12 (MTDPS12); Autosomal dominant progressive external ophthalmoplegia (adPEO) with mitochondrial DNA (mtDNA) deletions-2 (PEOA2)
Autosomal recessive and Autosomal dominant
Mitochondrial Gene Table
10
Gene Name OMIM # Associated Disease(s) or Phenotype(s) Inheritance Pattern
SLC2A2 138160 Fanconi-Bickel syndrome Autosomal recessive
SLC35A1 605634 Congenital disorder of glycosylation type Iif (CDG2F) Autosomal recessive
SLC35A2 314375 Congenital disorder of glycosylation type IIm (CDG2M) X-linked
SLC35C1 605881 Congenital disorder of glycosylation type IIc (CDG2C) Autosomal recessive
SLC37A4 602671 Glycogen storage disease Ib (GSD1B); Glycogen storage disease Ic (GSD1C)
Autosomal recessive
SLC6A8* 300036 Cerebral creatine deficiency syndrome-1 (CCDS1) X-linked
SLC7A7 603593 Lysinuric protein intolerance (LPI) Autosomal recessive
SPAST 604277 Autosomal dominant spastic paraplegia-4 (SPG4) Autosomal dominant
SPG7 602783 Autosomal recessive spastic paraplegia-7 (SPG7) Autosomal recessive
SPTLC1 605712 Hereditary sensory and autonomic neuropathy type IA (HSAN1A)
Autosomal dominant
SRD5A3 611715 Congenital disorder of glycosylation type Iq (CDG1Q); Kahrizi syndrome
Autosomal recessive
SSR4 300090 Congenital disorder of glycosylation type Iy (CDG1Y) X-linked
STT3A 601134 Congenital disorder of glycosylation type Iw (CDG1W) Autosomal recessive
STT3B 608605 Congenital disorder of glycosylation type Ix (CDG1X) Autosomal recessive
STXBP1 602926 Early infantile epileptic encephalopathy-4 (EIEE4) Autosomal dominant
SUCLA2 603921 Mitochondrial DNA depletion syndrome-5 (MTDPS5) Autosomal recessive
SUCLG1 611224 Mitochondrial DNA depletion syndrome-9 (MTDPS9) Autosomal recessive
SURF1 185620 Leigh syndrome, due to mitochondrial complex IV deficiency Autosomal recessive
TACO1 612958 Mitochondrial complex IV deficiency; Leigh syndrome due to mitochondrial complex IV deficiency
Autosomal recessive
TARS2 612805 Combined oxidative phosphorylation deficiency-21 (COXPD21) Autosomal recessive
TAZ 300394 Barth syndrome or 3-methylglutaconic aciduria type II (MGCA2) X-linked
TIMM8A 300356 Jensen syndrome; Mohr-Tranebjaerg syndrome X-linked
TK2 188250 Mitochondrial DNA (mtDNA) depletion syndrome-2 (MTDPS2) Autosomal recessive
TMEM126A 612988 Optic atrophy-7 (OPA7) Autosomal recessive
TMEM165 614726 Congenital disorder of glycosylation type IIk (CDG2K) Autosomal recessive
TMEM70 612418 Mitochondrial complex V (ATP synthase) deficiency nuclear type 2 (MC5DN2)
Autosomal recessive
TPK1 606370 Thiamine pyrophosphokinase deficiency or thiamine metabolism dysfunction syndrome-5 (THMD5)
Autosomal recessive
TRIT1 N/A Encephalopathy and myoclonic epilepsy associated with a disorder of mitochondrial translation6
Autosomal recessive
TRMU 610230 Transient infantile liver failure (LFIT) Autosomal recessive
TRNT1 612907 Congenital sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)
Autosomal recessive
TSFM 604723 Combined oxidative phosphorylation deficiency-3 (COXPD3) Autosomal recessive
TTC19 613814 Mitochondrial complex III deficiency nuclear type 2 (MC3DN2) Autosomal recessive
Mitochondrial Gene TableGene Name OMIM # Associated Disease(s) or Phenotype(s) Inheritance Pattern
TUFM 602389 Combined oxidative phosphorylation deficiency-4 (COXPD4) Autosomal recessive
TYMP 131222 Mitochondrial DNA depletion syndrome 1 (MNGIE type) Autosomal recessive
UQCC2 614461 Mitochondrial complex III deficiency nuclear type 7 (MC3DN7) Autosomal recessive
UQCC3 616097 Mitochondrial complex III deficiency nuclear type 9 (MC3DN9) Autosomal recessive
UQCRB 191330 Mitochondrial complex III deficiency nuclear type 3 (MC3DN3) Autosomal recessive
UQCRC2 191329 Mitochondrial complex III deficiency nuclear type 5 (MC3DN5) Autosomal recessive
UQCRQ 612080 Mitochondrial complex III deficiency nuclear type 4 (MC3DN4) Autosomal recessive
VARS2 612802 Combined oxidative phosphorylation deficiency-20 (COXPD20) Autosomal recessive
WDR45 300526 Neurodegeneration with brain iron accumulation-5 (NBIA5) X-linked
WFS1 606201 Wolfram syndrome; Autosomal dominant Wolfram-like syndrome; DFNA6/14/38 nonsyndromic low-frequency sensorineural hearing loss (LFSNHL)
Autosomal recessive and Autosomal dominant
YARS2 610957 Myopathy, lactic acidosis, and sideroblastic anemia-2 (MLASA2) Autosomal recessive
*Exon-level deletion/duplication testing is not currently available for these gene
References: 1. Hallmann et al. (2014) Neurology 83 (23):2183-7 (PMID: 25361775).
2. Baertling et al. (2015) Human Mutation 36 (1):34-8 (PMID: 25339201).
3. Calvo et al. (2012) Science Translational Medicine 4 (118):118ra10 (PMID: 22277967).
4. Ghosh et al. (2014) Human Molecular Genetics 23 (13):3596-606 (PMID: 24549041).
5. Spiegel et al. (2014) European Journal Of Human Genetics : Ejhg 22 (7):902-6 (PMID: 24281368).
6. Yarham et al. (2014) P Lo S Genetics 10 (6):e1004424 (PMID: 24901367).
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