Mitochondrial Gene Table Gene 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 CharcotMarie-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 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 2
Mitochondrial Gene Table 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 3
Mitochondrial Gene Table 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 Autosomal dominant motor neuropathy type VA (HMN5A)
GATM
602360
Cerebral creatine deficiency syndrome 3 (CCDS3)
Autosomal recessive 4
Mitochondrial Gene Table 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) Autosomal recessive deficiency; Mitochondrial trifunctional protein deficiency (MTPD)
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 5
Mitochondrial Gene Table 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
6
Mitochondrial Gene Table 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
7
Mitochondrial Gene Table 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 Autosomal dominant mitochondrial DNA deletions 4 (PEOA4)
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 8
Mitochondrial Gene Table 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); Autosomal recessive Mitochondrial DNA depletion syndrome 8B (MTDPS8B); and Autosomal dominant 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 Autosomal recessive Paraganglioma and Pheochromocytoma Syndrome (PGL/PCC) and Autosomal dominant
SDHAF1
612848
Mitochondrial complex II deficiency
SERAC1
614725
3-Methylglutaconic aciduria with deafness, encephalopathy, and Autosomal recessive Leigh-like syndrome (MEGDEL)
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
Autosomal recessive
9
Mitochondrial Gene Table 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 Autosomal recessive dysfunction syndrome-5 (THMD5)
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
10
Mitochondrial Gene Table Gene 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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