mitochondria gene tae · amacr 604489 alpha-methylacyl-coa racemase deficiency; congenital bile...

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


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)


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)


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)


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


3


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




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


4


DNA2 601810 Autosomal dominant progressive external ophthalmoplegia-6 (PEOA6); Seckel syndrome-8 (SCKL8)


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)


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


5


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


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


6


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


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


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


7


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


NDUFA4 603833 Cytochrome c oxidase deficiency Autosomal recessive


NDUFAF1 606934 Mitochondrial complex I deficiency Autosomal recessive

NDUFAF2 609653 Leigh syndrome; Mitochondrial complex I deficiency Autosomal recessive




NDUFAF6 (C8ORF38) 612392 Leigh syndrome due to 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



NDUFS4 602694 Leigh syndrome; 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


8


OPA3 606580 Optic atrophy 3 with cataracts (OPA3); 3-Methylglutaconic aciduria type III


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


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


9


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)


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)


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)



10


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)


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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