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Sulaiman et al. J Transl Genet Genom 2020;4:159-87 I https://doi.org/10.20517/jtgg.2020.27 Page 167

MRPL3 607118 Mitochondrial 3q22.1 AR Cardiomyopathy, mental retardation
translation
MRPS7 611974 Mitochondrial 17q25.1 AR Deafness, hepatic and renal failure
translation
MRPL12 602375 Mitochondrial 17q25.3 AR Growth retardation, encephalopathy
translation
MRPS16 609204 Mitochondrial 10q22.1 AR Neonatal lactic acidosis, corpus callosum
translation agenesis
MRPS22 605810 Mitochondrial 3q23 AR Cardiomyopathy, tubulopathy
translation
MRPL44 611849 Mitochondrial 2q36.1 AR Cardiomyopathy
translation
MTFMT 611766 Mitochondrial 15q22.31 AR LS
translation
MTO1 614667 tRNA modification 6q13 AR Cardiomyopathy
NARS2 612803 Asparaginyl-tRNA 11q14.1 AR Alpers syndrome/nonsyndromic deafness
synthetase and Leigh syndrome
PARS2 612036 Prolyl- tRNA 1p32.3 AR Alpers syndrome
Synthetase
RARS2 611523 Arginyl-tRNA 6q16.1 AR Pontocerebellar hypoplasia
synthetase
RMND1 614917 Mitochondrial 6q25.1 AR Encephalopathy
translation
SARS2 612804 seryl-tRNA synthetase 19q13.2 AR Hyperuricemia, pulmonary hypertension,
renal failure
TARS2 612805 Threonyl--tRNA 1q21.2 AR Encephalomyopathy
synthetase
TSFM 604723 Mitochondrial 12q13-q14 AR Encephalomyopathy, hypertrophic
translation elongation cardiomyopathy
TUFM 602389 Mitochondrial 16p11.2 AR Leukodystrophy with micropolygyria
translation elongation
TRMT5 611023 Mitochondrial tRNA 14q23.1 AR Cardiomyopathy/exercise intolerance
methylation
TRMT10C 615423 tRNA 3q12.3 AR Hypotonia, feeding difficulties, deafness
methyltransferase
TRMU 610230 Mitochondrial 22q13.31 AR Liver failure, deafness
translation
VARS2 612802 Valyl-tRNA synthetase 6p21.33 AR Encephalomyopathy
YARS2 610957 yrosyl-tRNA synthetase 12p11.21 AR Myopathy, lactic acidosis, and sideroblastic
anemia-2
Iron ABCB7 301310 Iron transport Xq13.1-q13.3 X-linked X-linked sideroblastic anemia with ataxia
homeostasis
BOLA3 613183 Iron-sulfur cluster 2p13.1 AR Encephalomyopathy, cardiomyopathy
biosynthesis
FDXL1 614585 Iron-sulfur cluster 19p13.2 AR Myopathy, lactic acidosis
biosynthesis
FRDA (FXN) 606829 Frataxin trinuc.* repeat, 9q13 AR Friedreich ataxia, neuropathy,
cardiomyopathy, diabetes
GLRX5 205950 Iron-sulfur cluster 3p22.1 AR Sideroblastic anemia
biosynthesis
IBA57 615316 Iron-sulfur cluster 1q42.13 AR Myopathy, encephalopathy
biosynthesis
ISCA2 615317 Iron-sulfur cluster 14q24.3 AR Leukodystrophy
biosynthesis
ISCU 255125 Iron-sulfur cluster 12q23.3 AR Myopathy, lactic acidosis, exercise
biosynthesis intolerance
LYRM4 613311 Iron-sulfur cluster 6p25.1 AR Lactic acidosis, Failure to thrive
biosynthesis
LYRM7 615831 Iron-sulfur cluster 5q23.3-q31.1 AR Encephalopathy, lactic acidosis
biosynthesis
NFU1 608100 Iron-sulfur cluster 2p13.3 AR Lactic acidosis, multiple respiratory chain
biosynthesis deficiency
Coenzyme APTX 606350 CoQ10 deficiency 9p13.3 AR Cerebellar ataxia, Oculomotor apraxia
Q10
biogenesis
CABC1 606980 CoQ10 deficiency 1q42.2 AR Cerebellar ataxia, lactic acidosis
COQ2 609825 CoQ10 deficiency 4q21-q22 AR Encephalomyopathy, nephropathy
COQ4 612898 CoQ10 deficiency 9q34.13 AR Encephalomyopathy, mental retardation
COQ5 616359 CoQ10 deficiency 12q24.31 AR Encephalomyopathy, cerebellar ataxia
COQ6 614647 CoQ10 deficiency 14q24.3 AR Nephrotic syndrome, deafness
COQ7 601683 CoQ10 deficiency 16p12.3 AR Hypotonia, cardiac hypertrophy