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Page 166 Sulaiman et al. J Transl Genet Genom 2020;4:159-87 I https://doi.org/10.20517/jtgg.2020.27

MtDNA ANT1 (PEOA2) 609283 Adenine nucleotide 4q35 AD-AR AD-PEO, multiple mtDNA deletions
maintenance translocator isoform 1
C10ORF (PEOA3) 609286 Twinkle helicase 10q24 AD AD-PEO, SANDO syndrome
DGUOK 601465 Deoxyguanosine kinase 2p13 AR Hepatocerebral mtDNA depletion
Mitochondrial dNTP syndrome
pool maintenance
FBXL4 605654 mtDNA maintenance 6q16.1-q16.2 AR Encephalomyopathy and myopathy,
mtDNA depletion
MFN2 609260 Mitofusin, 1p36-p35 AD Charcot-Marie-Tooth disease-2A2
mitochondrial fusion (CMT2A2), multiple deletions
MGME1 615084 mtDNA maintenance 20p11.23 AR CPEO and myopathy, mtDNA depletion
MPV17 137960 Regulation of mtDNA 2p23-p21 AR Hepatocerebral MDDS
copy number
OPA1 165500 Dynamin-related 3q28-q29 AD AD-optic atrophy, multiple deletions
protein
POLG (PEOA1) 174763 Polymerase gamma 15q25 AD-AR Alpers syndrome, AD-PEO, and AR-PEO,
mtDNA replication male infertility, SANDO* syndrome, SCAE*
POLG2 (PEOA4) 610131 Catalytic subunit of 17q23-q24 AD AD-PEO
DNA polymerase
gamma
RRM2B (PEOA5) 604712 Ribonucleotide 8q23.1 AR Encephalomyopathy, renal tubulopathy
reductase M2 B dNTP MNGIE, AD-PEO
pool
SUCLA2 603921 Succinate-CoA ligase, 13q12.2-q13 AR Encephalomyopathy with methylmalonic
ADP-forming, beta aciduria
subunit
SUCLG1 611224 Succinate-CoA ligase, 2p11.2 AR Encephalomyopathy with methylmalonic
alpha subunit aciduria
TFAM 600438 Mitochondrial 10q21.1 AR Encephalomyopathy, mtDNA depletion
transcription factor A
TK2 188250 Thymidine kinase 16q22 AR Myopathic mtDNA depletion
Mitochondrial dNTP
pool maintenance
TYMP (ECGF1) 603041 Thymidine 22q13.32- AR MNGIE, mtDNA depletion
phosphorylase qter
Mitochondrial DNAJC19 608977 Protein import 3q26.3 AR Cardiomyopathy, ataxia
import
DDP 304700 Protein import Xq22 X-linked Deafness-dystonia or Mohr-Tranebjaerg
syndrome
Mitochondrial AARS2 612035 Alanyl-tRNA 6p21.1 AR Cardiomyopathy, leukoencephalopathy
protein synthetase
synthesis
CARS2 612800 Cysteinyl-tRNA 13q34 AR Myoclonic epilepsy
synthetase
C12orf65 613541 Mitochondrial 12q24.31 AR Encephalomyopathy, optic atrophy, axonal
translation neuropathy, paraparesis
DARS2 611105 Aspartyl-tRNA 1q25.1 AR Leukoencephalopathy and lactic acidosis
synthetase
EARS2 612799 Glutamyl tRNA 16p12.2 AR Leukoencephalopathy
synthetase
EFG1 609060 Elongation factor 3q25 AR Severe hepato-encephalopathy and lactic
G1 mitochondrial acidosis
translation defect
FARS2 611592 Phenylalanyl-tRNA 6p25.1 AR Alpers syndrome, spastic paraplegia
synthetase
GARS 600287 Glycyl-tRNA 7p14.3 AD Charcot-Marie-Tooth disease
synthetase
GFM1 606639 Mitochondrial 3q25.32 AR Encephalopathy/hepatic failure
translation elongation
GFM2 606544 Mitochondrial 5q13.3 AR Neurodevelopmental disorder, dysmorphic
translation elongation features
GTPBP3 608536 GTP-binding protein 19p13.11 AR Cardiomyopathy, encephalopathy
HARS2 600783 Histidyl-tRNA 5q31.3 AR Perrault syndrome
synthetase
IARS2 612801 Isoleucyl tRNA- 1q41 AR Cataract, deafness, neuropathy/Leigh
Synthetase syndrome
KARS 601421 Lysyl-tRNA synthetase 16q23.1 AR CMT disease/deafness
LARS 615438 Leucine-tRNA 5q32 AR Hepatopathy
synthetase
LARS2 604544 Leucyl-tRNA 3p21.31 AR Perrault syndrome
Synthetase