Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
1
AARS2
Alanyl-tRNA synthetase 2, mitochondrial(M)



6p21.1
Mitochondrial hypertrophic cardiomyopathy related to AARS2 - COXPD8 (10.25)
2
ACAD9
acyl-CoA dehydrogenase family member 9(M)



3q21.3
ACAD9-deficient mild myopathy - (9.23)
3
ACADVL
Acyl-Coenzyme A dehydrogenase, very long chain(M)



17p13
Acyl-CoA dehydrogenase (very long chain) deficiency - VLCAD (9.22)
4
ADCK3
Atypical kinaseADCK3, mitochondrial(M)



1q42.13
spinocerebellar ataxia, autosomal recessive 9 - SCAR9 (13.58)
5
AFG3L2
AFG3 ATPase family gene 3-like 2 (S. cerevisiae) 1(M)



18p11-q11
Spinocerebellar ataxia 28 - SCA28 (13.26, 15.71)
Spastic ataxia 5 autosomal recessive - SPAX5 (13.26, 15.71)
6
AIFM1
Apoptosis-inducing factor, mitochondrionassociated 1(M)



Xq24-q26.1
Neuropathy, axonal motor-sensory, with deafness and mental retardation - NAMSD (14.33)
Charcot-Marie-Tooth disease with deafness and mental retardation - NAMSD (14.33)
Cowchock syndrome - NAMSD (14.33)
7
ALDH18A1
Delta-1-pyrroline-5-carboxylate synthase(M)



10q24.1
Spastic paraplegia 9 - SPG9 (15.5, 15.21)
Spastic paraplegia 9A, autosomal recessive - SPG9A (15.5, 15.21)
8
C10orf2
chromosome 10 open reading frame 2(M)



10q24.31
Spinocerebellar ataxia, infantile-onset, with sensory neuropathy - IOSCA (13.49, 16.18)
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEO3A (13.49, 16.18)
9
C12orf65
adaptor-related protein complex 4, sigma 1 subunit(M)



12q24.31
Spastic paraplegia 55, autosomal recessive - SPG55 (15.50)
10
C19orf12
chromosome 19 open reading frame 12(M)



19q12
Spastic paraplegia 43, autosomal recessive - SPG43 (15.38)
Neurodegeneration with brain iron accumulation 4 - NBIA4 (15.38)
11
CASQ1
Calsequestrin 1 (fast-twitch, skeletal muscle)(M)



1q21
Vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggegates - (16.30)
12
CHCHD10
Coiled-coil-helix-coiled-coil-helix domain containing 10(M)



22q11.2-q13.2
Amyotrophic lateral sclerosis and/or frontotemporal dementia - FTDALS2 (12.32, 12.63, 16.29)
Mitochondrial myopathy - (12.32, 12.63, 16.29)
late-onset spinal motor neuronopathy, Jokela type - SMAJ (12.32, 12.63, 16.29)
13
COX15
COX15 homolog, cytochrome c oxidase assembly protein (yeast)(M)



10q24
Hypertrophic cardiomyopathy, early-onset fatal related to COX15 - (10.27)
14
COX6A1
Cytochrome c oxidase subunit VIa polypeptide 1(M)



12q24.31
CMT recessive intermediate D - CMTRID (14.74)
15
CPT2
Carnitine palmitoyltransferase II(M)



1p32
CPT deficiency, hepatic, type II - CPT2 (9.16)
Hypoglycemia hypoketonic related to carnitine palmitoyltransferase II - CPTase (9.16)
Myopathy due to CPT II deficiency - CPT2 (9.16)
16
ETFA
Electron-transfer-flavoprotein, alpha polypeptide(M)



15q23-q25
Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIA) - GAIIA (9.19)
17
ETFB
Electron-transfer-flavoprotein, beta polypeptide(M)



19q13.3-q13.4
Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIB) - GAIIB (9.20)
18
ETFDH
Electron-transferring-flavoprotein dehydrogenase(M)



4q32-q35
Multiple acyl-CoA dehydrogenase deficiency (MADD; Glutaric aciduria type IIC) - GAIIC (9.21, 9.26)
Multiple acyl-coa dehydrogenase deficiency - MADD (9.21, 9.26)
19
FARS2
Phenylalanine--tRNA ligase(M)



6p25.1
Spastic paraplegia 77, autosomal recessive - SPG77 (15.60)
20
FXN
Frataxin(M)



9q13-q21.1
Friedreich ataxia - FRDA (13.46)
Friedreich ataxia with retained reflexes - FARR (13.46)
21
HK1
Hexokinase 1(M)



10q22.1
Charcot-Marie-Tooth neuropathy Type 4G - CMT4G (14.26)
22
HSPD1
Heat shock 60kDa protein 1 (chaperonin)(M)



2q33.1
Spastic paraplegia 13 - SPG13 (15.8)
23
IBA57
IBA57 homolog, iron-sulfur cluster assembly (M)



1q42.13
Spastic paraplegia 74, autosomal recessive - SPG74 (15.57)
24
ISCU
Iron-sulfur cluster scaffold homolog (E. coli)(M)



12q24.1
myopathy with exercise intolerance, swedish type - (5.26)
myopathy with deficiency of succinate dehydrogenase and aconitase - (5.26)
myopathy with lactic acidosis, hereditary - HML (5.26)
25
KIF1B
Kinesin family member 1B(M)



1p36.2
Charcot-Marie-Tooth disease, type 2A1 - CMT2A1 (14.40)
26
MARS2
methionyl-tRNA synthetase 2, mitochondrial(M)



2q33-34
autosomal recessive spastic ataxia with leukoencephalopathy - ARSAL (15.69)
27
MFN2
Mitofusin 2(M)



1p36.22
Hereditary motor and sensory neuropathy 2A - CMT2A (14.41)
28
MRPL3
Mitochondrial ribosomal protein L3(M)



3q21-q23
Hypertrophic mitochondrial cardiomyopathy related to MRPL3 - (10.26)
29
MRPL44
Mitochondrial ribosomal protein L44(M)



2q36.1
Mitochondrial hypertrophic cardiomyopathy related to MRPL44 - COXPD16 (10.29)
30
MTO1
Mitochondrial tRNA translation optimization 1(M)



6q13
Mitochondrial hypertrophic cardiomyopathy related to MTO1 - COXPD10 (10.28)
31
MTPAP
mitochondrial poly(A) polymerase(M)



10p12.1
Spastic ataxia 4 autosomal recessive - SPAX4 (15.70)
32
NDUFAF1
NADH-ubiquinone oxidoreductase 1 alpha subcomplex(M)



15q15.1
patient with HCM and isolated respiratory complex I deficiency - (10.23)
Hypertrophic mitochondrial cardiomyopathy related to NDUFAF1 - (10.23)
33
OPA1
optic atrophy 1(M)



3q28-q29
Progressive external ophthalmoplegia with optic atrophy, optic atrophy 1 with de - (16.25)
34
PDK3
Pyruvate dehydrogenase kinase, isoenzyme 3(M)



Xp22.11
Charcot-Marie-Tooth neuropathy X-linked 6 - (14.35)
35
PNPLA8
Patatin-like phospholipase domain containing 8(M)



7q31.1
Infantile neuroaxonal dystrophy and neutral lipid storage disease with myopathy - MMLA (9.28)
36
POLG
Polymerase (DNA directed), gamma(M)



15q25
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis - SANDO (13.62, 16.16)
spinocerebellar ataxia with epilepsy, included - SCAE (13.62, 16.16)
Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal - PEOA1 (13.62, 16.16)
37
POLG2
Mitochondrial DNA polymerase, accessory subunit(M)



17q24.1
progressive external ophthalmoplegia, autosomal dominant, 4 - PEOA4 (16.19)
38
PTRF
Polymerase I and transcript release factor(M)



17q21-q23
lipodystrophy, congenital generalized, type 4 - CGL4 (1.12)
39
PUS1
Pseudouridylate synthase 1(M)



12q24.33
Mitochondrial myopathy and sideroblastic anemia 1 - MLASA1 (16.28)
40
REEP1
Receptor accessory protein 1(M)



2p11.2
Distal spinal muscular atrophy, type VB - DSMAVB (12.16, 15.12)
Spastic paraplegia 31 - SPG31 (12.16, 15.12)
41
RRM2B
Ribonucleotide reductase M2 B (TP53 inducible)(M)



8q23.1
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA5 (16.20, 16.23)
42
SDHA
succinate dehydrogenase complex, subunit A, flavoprotein (Fp)(M)



5p15
Recessive neonatal isolated DC - (10.71)
Cardiomyopathy, dilated, 1GG - CMD1GG (10.71)
43
SLC25A20
Carnitine-acylcarnitine translocase(M)



3p21.31
Carnitine-acylcarnitine translocase deficiency - CACT (9.18)
44
SLC25A4
Mitochondrial carrier; adenine nucleotide translocator(M)



4q35
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal - PEOA2 (16.17)
45
SLC25A42
solute carrier family 25 member 42(M)



19p13.11
Mitochondrial myopathy - (16.24)
46
SPG7
Paraplegin(M)



16q24.3
Spastic paraplegia 7 - SPG7 (15.20)
47
SUCLA2
Succinate-CoA ligase, ADP-forming, beta subunit(M)



13q12.2-q13.3
Mitochondrial dna depletion syndrome, myopathic form - MDDS4 (16.22)
48
SURF1
surfeit 1(M)



9q34.2
Charcot-Marie-Tooth neuropathy Type 4K - CMT4K (14.29)
49
TK2
Thymidine kinase 2, mitochondrial(M)



16q22-q23
Mitochondrial dna depletion syndrome, myopathic form - MTDPS3 (13.29, 16.21)
50
TSFM
Ts translation elongation factor, mitochondrial(M)



12q14.1
Mitochondrial hypertrophic cardiomyopathy related to TSFM - COXPD3 (10.24)
51
YARS2
tyrosyl-tRNA synthetase 2, mitochondrial(M)



12p11.21
Myopathy, lactic acidosis, and sideroblastic anemia-2 - MLASA2 (16.31)