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Mitochondrial disease v2.0 ISCA-37440-Loss Region ISCA-37440-Loss migrated (gene set migration)
Mitochondrial disease v2.0 FXN_FRDA_GAA STR FXN_FRDA_GAA: gene migrated from ENSG00000165060 to ENSG00000165060 (gene set migration)
Mitochondrial disease v2.0 COA5 Gene migrated from ENSG00000183513 to ENSG00000183513 (gene set migration)
Mitochondrial disease v2.0 PNPLA4 Gene migrated from ENSG00000006757 to ENSG00000006757 (gene set migration)
Mitochondrial disease v2.0 SDHC Gene migrated from ENSG00000143252 to ENSG00000143252 (gene set migration)
Mitochondrial disease v2.0 PYROXD2 Gene migrated from ENSG00000119943 to ENSG00000119943 (gene set migration)
Mitochondrial disease v2.0 MICU2 Gene migrated from ENSG00000165487 to ENSG00000165487 (gene set migration)
Mitochondrial disease v2.0 NUP62 Gene migrated from ENSG00000213024 to ENSG00000213024 (gene set migration)
Mitochondrial disease v2.0 NDUFAF7 Gene migrated from ENSG00000003509 to ENSG00000003509 (gene set migration)
Mitochondrial disease v2.0 ATPAF2 Gene migrated from ENSG00000171953 to ENSG00000171953 (gene set migration)
Mitochondrial disease v2.0 MRPS28 Gene migrated from ENSG00000147586 to ENSG00000147586 (gene set migration)
Mitochondrial disease v2.0 ERCC6L2 Gene migrated from ENSG00000182150 to ENSG00000182150 (gene set migration)
Mitochondrial disease v2.0 COX8A Gene migrated from ENSG00000176340 to ENSG00000176340 (gene set migration)
Mitochondrial disease v2.0 COA3 Gene migrated from ENSG00000183978 to ENSG00000183978 (gene set migration)
Mitochondrial disease v2.0 MIEF1 Gene migrated from ENSG00000100335 to ENSG00000100335 (gene set migration)
Mitochondrial disease v2.0 SDHAF2 Gene migrated from ENSG00000167985 to ENSG00000167985 (gene set migration)
Mitochondrial disease v2.0 SUCLG2 Gene migrated from ENSG00000172340 to ENSG00000172340 (gene set migration)
Mitochondrial disease v2.0 COX4I2 Gene migrated from ENSG00000131055 to ENSG00000131055 (gene set migration)
Mitochondrial disease v2.0 PTCD1 Gene migrated from ENSG00000106246 to ENSG00000106246 (gene set migration)
Mitochondrial disease v2.0 SLIRP Gene migrated from ENSG00000119705 to ENSG00000119705 (gene set migration)
Mitochondrial disease v2.0 CHCHD4 Gene migrated from ENSG00000163528 to ENSG00000163528 (gene set migration)
Mitochondrial disease v2.0 MRPL12 Gene migrated from ENSG00000262814 to ENSG00000262814 (gene set migration)
Mitochondrial disease v2.0 ME2 Gene migrated from ENSG00000082212 to ENSG00000082212 (gene set migration)
Mitochondrial disease v2.0 ATP5PB Gene symbol changed from ATP5F1 to ATP5PB during gene set migration (ENSG00000116459 -> ENSG00000116459)
Mitochondrial disease v2.0 GMPR Gene migrated from ENSG00000137198 to ENSG00000137198 (gene set migration)
Mitochondrial disease v2.0 FAM136A Gene migrated from ENSG00000035141 to ENSG00000035141 (gene set migration)
Mitochondrial disease v2.0 NME3 Gene migrated from ENSG00000103024 to ENSG00000103024 (gene set migration)
Mitochondrial disease v2.0 MRPL42 Gene migrated from ENSG00000198015 to ENSG00000198015 (gene set migration)
Mitochondrial disease v2.0 GATC Gene migrated from ENSG00000257218 to ENSG00000257218 (gene set migration)
Mitochondrial disease v2.0 MT-RNR2 Gene migrated from ENSG00000210082 to ENSG00000210082 (gene set migration)
Mitochondrial disease v2.0 PET117 Gene migrated from ENSG00000232838 to ENSG00000232838 (gene set migration)
Mitochondrial disease v2.0 TIMM29 Gene migrated from ENSG00000142444 to ENSG00000142444 (gene set migration)
Mitochondrial disease v2.0 XPNPEP3 Gene migrated from ENSG00000196236 to ENSG00000196236 (gene set migration)
Mitochondrial disease v2.0 KIF5A Gene migrated from ENSG00000155980 to ENSG00000155980 (gene set migration)
Mitochondrial disease v2.0 MRPS25 Gene migrated from ENSG00000131368 to ENSG00000131368 (gene set migration)
Mitochondrial disease v2.0 MIEF2 Gene migrated from ENSG00000177427 to ENSG00000177427 (gene set migration)
Mitochondrial disease v2.0 COX14 Gene migrated from ENSG00000178449 to ENSG00000178449 (gene set migration)
Mitochondrial disease v2.0 SLC25A10 Gene migrated from ENSG00000183048 to ENSG00000183048 (gene set migration)
Mitochondrial disease v2.0 UQCRH Gene migrated from ENSG00000173660 to ENSG00000173660 (gene set migration)
Mitochondrial disease v2.0 MRPS14 Gene migrated from ENSG00000120333 to ENSG00000120333 (gene set migration)
Mitochondrial disease v2.0 COX5A Gene migrated from ENSG00000178741 to ENSG00000178741 (gene set migration)
Mitochondrial disease v2.0 TMEM65 Gene migrated from ENSG00000164983 to ENSG00000164983 (gene set migration)
Mitochondrial disease v2.0 YME1L1 Gene migrated from ENSG00000136758 to ENSG00000136758 (gene set migration)
Mitochondrial disease v2.0 EXOSC3 Gene migrated from ENSG00000107371 to ENSG00000107371 (gene set migration)
Mitochondrial disease v2.0 ERAL1 Gene migrated from ENSG00000132591 to ENSG00000132591 (gene set migration)
Mitochondrial disease v2.0 MTERF3 Gene migrated from ENSG00000156469 to ENSG00000156469 (gene set migration)
Mitochondrial disease v2.0 MT-TC Gene migrated from ENSG00000210140 to ENSG00000210140 (gene set migration)
Mitochondrial disease v2.0 NDUFC2 Gene migrated from ENSG00000151366 to ENSG00000151366 (gene set migration)
Mitochondrial disease v2.0 CRAT Gene migrated from ENSG00000095321 to ENSG00000095321 (gene set migration)
Mitochondrial disease v2.0 SQOR Gene migrated from ENSG00000137767 to ENSG00000137767 (gene set migration)
Mitochondrial disease v2.0 MRPS16 Gene migrated from ENSG00000182180 to ENSG00000182180 (gene set migration)
Mitochondrial disease v2.0 UQCRQ Gene migrated from ENSG00000164405 to ENSG00000164405 (gene set migration)
Mitochondrial disease v2.0 MTNAP1 Gene symbol changed from C17orf80 to MTNAP1 during gene set migration (ENSG00000141219 -> ENSG00000141219)
Mitochondrial disease v2.0 UQCC3 Gene migrated from ENSG00000204922 to ENSG00000204922 (gene set migration)
Mitochondrial disease v2.0 GATB Gene migrated from ENSG00000059691 to ENSG00000059691 (gene set migration)
Mitochondrial disease v2.0 MARS2 Gene migrated from ENSG00000247626 to ENSG00000247626 (gene set migration)
Mitochondrial disease v2.0 SLC25A21 Gene migrated from ENSG00000183032 to ENSG00000183032 (gene set migration)
Mitochondrial disease v2.0 TXN2 Gene migrated from ENSG00000100348 to ENSG00000100348 (gene set migration)
Mitochondrial disease v2.0 SLC39A8 Gene migrated from ENSG00000138821 to ENSG00000138821 (gene set migration)
Mitochondrial disease v2.0 P4HTM Gene migrated from ENSG00000178467 to ENSG00000178467 (gene set migration)
Mitochondrial disease v2.0 ATP5MK Gene symbol changed from USMG5 to ATP5MK during gene set migration (ENSG00000173915 -> ENSG00000173915)
Mitochondrial disease v2.0 NDUFB9 Gene migrated from ENSG00000147684 to ENSG00000147684 (gene set migration)
Mitochondrial disease v2.0 KGD4 Gene symbol changed from MRPS36 to KGD4 during gene set migration (ENSG00000134056 -> ENSG00000134056)
Mitochondrial disease v2.0 TOMM70 Gene migrated from ENSG00000154174 to ENSG00000154174 (gene set migration)
Mitochondrial disease v2.0 IDH3B Gene migrated from ENSG00000101365 to ENSG00000101365 (gene set migration)
Mitochondrial disease v2.0 NDUFA11 Gene migrated from ENSG00000174886 to ENSG00000174886 (gene set migration)
Mitochondrial disease v2.0 MT-ATP8 Gene migrated from ENSG00000228253 to ENSG00000228253 (gene set migration)
Mitochondrial disease v2.0 COX16 Gene migrated from ENSG00000133983 to ENSG00000133983 (gene set migration)
Mitochondrial disease v2.0 RRM1 Gene migrated from ENSG00000167325 to ENSG00000167325 (gene set migration)
Mitochondrial disease v2.0 CMPK2 Gene migrated from ENSG00000134326 to ENSG00000134326 (gene set migration)
Mitochondrial disease v2.0 TIMM22 Gene migrated from ENSG00000177370 to ENSG00000177370 (gene set migration)
Mitochondrial disease v2.0 MRPL50 Gene migrated from ENSG00000136897 to ENSG00000136897 (gene set migration)
Mitochondrial disease v2.0 MT-TQ Gene migrated from ENSG00000210107 to ENSG00000210107 (gene set migration)
Mitochondrial disease v2.0 MT-ND4L Gene migrated from ENSG00000212907 to ENSG00000212907 (gene set migration)
Mitochondrial disease v2.0 SMDT1 Gene migrated from ENSG00000183172 to ENSG00000183172 (gene set migration)
Mitochondrial disease v2.0 SUPV3L1 Gene migrated from ENSG00000156502 to ENSG00000156502 (gene set migration)
Mitochondrial disease v2.0 ATP5F1B Gene symbol changed from ATP5B to ATP5F1B during gene set migration (ENSG00000110955 -> ENSG00000110955)
Mitochondrial disease v2.0 PCK2 Gene migrated from ENSG00000100889 to ENSG00000100889 (gene set migration)
Mitochondrial disease v2.0 DNAJA3 Gene migrated from ENSG00000103423 to ENSG00000103423 (gene set migration)
Mitochondrial disease v2.0 MRPS7 Gene migrated from ENSG00000125445 to ENSG00000125445 (gene set migration)
Mitochondrial disease v2.0 APOO Gene migrated from ENSG00000184831 to ENSG00000184831 (gene set migration)
Mitochondrial disease v2.0 LYRM4 Gene migrated from ENSG00000214113 to ENSG00000214113 (gene set migration)
Mitochondrial disease v2.0 ACADS Gene migrated from ENSG00000122971 to ENSG00000122971 (gene set migration)
Mitochondrial disease v2.0 NDUFA8 Gene migrated from ENSG00000119421 to ENSG00000119421 (gene set migration)
Mitochondrial disease v2.0 CEP89 Gene migrated from ENSG00000121289 to ENSG00000121289 (gene set migration)
Mitochondrial disease v2.0 MPC2 Gene migrated from ENSG00000143158 to ENSG00000143158 (gene set migration)
Mitochondrial disease v2.0 MT-TY Gene migrated from ENSG00000210144 to ENSG00000210144 (gene set migration)
Mitochondrial disease v2.0 MT-TE Gene migrated from ENSG00000210194 to ENSG00000210194 (gene set migration)
Mitochondrial disease v2.0 MT-TS1 Gene migrated from ENSG00000210151 to ENSG00000210151 (gene set migration)
Mitochondrial disease v2.0 MT-TA Gene migrated from ENSG00000210127 to ENSG00000210127 (gene set migration)
Mitochondrial disease v2.0 MT-RNR1 Gene migrated from ENSG00000211459 to ENSG00000211459 (gene set migration)
Mitochondrial disease v2.0 MT-ND6 Gene migrated from ENSG00000198695 to ENSG00000198695 (gene set migration)
Mitochondrial disease v2.0 MT-TD Gene migrated from ENSG00000210154 to ENSG00000210154 (gene set migration)
Mitochondrial disease v2.0 MT-ND5 Gene migrated from ENSG00000198786 to ENSG00000198786 (gene set migration)
Mitochondrial disease v2.0 MT-ND4 Gene migrated from ENSG00000198886 to ENSG00000198886 (gene set migration)
Mitochondrial disease v2.0 MT-ND3 Gene migrated from ENSG00000198840 to ENSG00000198840 (gene set migration)
Mitochondrial disease v2.0 MT-ND2 Gene migrated from ENSG00000198763 to ENSG00000198763 (gene set migration)
Mitochondrial disease v2.0 MT-TV Gene migrated from ENSG00000210077 to ENSG00000210077 (gene set migration)
Mitochondrial disease v2.0 MT-CYB Gene migrated from ENSG00000198727 to ENSG00000198727 (gene set migration)
Mitochondrial disease v2.0 MT-CO1 Gene migrated from ENSG00000198804 to ENSG00000198804 (gene set migration)
Mitochondrial disease v2.0 MT-CO2 Gene migrated from ENSG00000198712 to ENSG00000198712 (gene set migration)
Mitochondrial disease v2.0 PDHA1 Gene migrated from ENSG00000131828 to ENSG00000131828 (gene set migration)
Mitochondrial disease v2.0 QRSL1 Gene migrated from ENSG00000130348 to ENSG00000130348 (gene set migration)
Mitochondrial disease v2.0 PRDX3 Gene migrated from ENSG00000165672 to ENSG00000165672 (gene set migration)
Mitochondrial disease v2.0 ATP5F1A Gene symbol changed from ATP5A1 to ATP5F1A during gene set migration (ENSG00000152234 -> ENSG00000152234)
Mitochondrial disease v2.0 MT-TT Gene migrated from ENSG00000210195 to ENSG00000210195 (gene set migration)
Mitochondrial disease v2.0 MT-TN Gene migrated from ENSG00000210135 to ENSG00000210135 (gene set migration)
Mitochondrial disease v2.0 COX18 Gene migrated from ENSG00000163626 to ENSG00000163626 (gene set migration)
Mitochondrial disease v2.0 PMPCA Gene migrated from ENSG00000165688 to ENSG00000165688 (gene set migration)
Mitochondrial disease v2.0 FASTKD5 Gene migrated from ENSG00000215251 to ENSG00000215251 (gene set migration)
Mitochondrial disease v2.0 LONP1 Gene migrated from ENSG00000196365 to ENSG00000196365 (gene set migration)
Mitochondrial disease v2.0 NSUN3 Gene migrated from ENSG00000178694 to ENSG00000178694 (gene set migration)
Mitochondrial disease v2.0 PTPMT1 Gene migrated from ENSG00000110536 to ENSG00000110536 (gene set migration)
Mitochondrial disease v2.0 MRPL49 Gene migrated from ENSG00000149792 to ENSG00000149792 (gene set migration)
Mitochondrial disease v2.0 LIPT2 Gene migrated from ENSG00000175536 to ENSG00000175536 (gene set migration)
Mitochondrial disease v2.0 DAP3 Gene migrated from ENSG00000132676 to ENSG00000132676 (gene set migration)
Mitochondrial disease v2.0 COQ5 Gene migrated from ENSG00000110871 to ENSG00000110871 (gene set migration)
Mitochondrial disease v2.0 PUS1 Gene migrated from ENSG00000177192 to ENSG00000177192 (gene set migration)
Mitochondrial disease v2.0 FDXR Gene migrated from ENSG00000161513 to ENSG00000161513 (gene set migration)
Mitochondrial disease v2.0 SPG7 Gene migrated from ENSG00000197912 to ENSG00000197912 (gene set migration)
Mitochondrial disease v2.0 PTCD3 Gene migrated from ENSG00000132300 to ENSG00000132300 (gene set migration)
Mitochondrial disease v2.0 MRM2 Gene migrated from ENSG00000122687 to ENSG00000122687 (gene set migration)
Mitochondrial disease v2.0 VCP Gene migrated from ENSG00000165280 to ENSG00000165280 (gene set migration)
Mitochondrial disease v2.0 PRKN Gene migrated from ENSG00000185345 to ENSG00000185345 (gene set migration)
Mitochondrial disease v2.0 PTRH2 Gene migrated from ENSG00000141378 to ENSG00000141378 (gene set migration)
Mitochondrial disease v2.0 PDE12 Gene migrated from ENSG00000174840 to ENSG00000174840 (gene set migration)
Mitochondrial disease v2.0 CIAO1 Gene migrated from ENSG00000144021 to ENSG00000144021 (gene set migration)
Mitochondrial disease v2.0 SLC25A12 Gene migrated from ENSG00000115840 to ENSG00000115840 (gene set migration)
Mitochondrial disease v2.0 FBXL4 Gene migrated from ENSG00000112234 to ENSG00000112234 (gene set migration)
Mitochondrial disease v2.0 GCSH Gene migrated from ENSG00000140905 to ENSG00000140905 (gene set migration)
Mitochondrial disease v2.0 OPA3 Gene migrated from ENSG00000125741 to ENSG00000125741 (gene set migration)
Mitochondrial disease v2.0 GUK1 Gene migrated from ENSG00000143774 to ENSG00000143774 (gene set migration)
Mitochondrial disease v2.0 COQ4 Gene migrated from ENSG00000167113 to ENSG00000167113 (gene set migration)
Mitochondrial disease v2.0 NDUFA13 Gene migrated from ENSG00000186010 to ENSG00000186010 (gene set migration)
Mitochondrial disease v2.0 PINK1 Gene migrated from ENSG00000158828 to ENSG00000158828 (gene set migration)
Mitochondrial disease v2.0 ATP5PO Gene symbol changed from ATP5O to ATP5PO during gene set migration (ENSG00000241837 -> ENSG00000241837)
Mitochondrial disease v2.0 MRPL39 Gene migrated from ENSG00000154719 to ENSG00000154719 (gene set migration)
Mitochondrial disease v2.0 RANBP2 Gene migrated from ENSG00000153201 to ENSG00000153201 (gene set migration)
Mitochondrial disease v2.0 PPCS Gene migrated from ENSG00000127125 to ENSG00000127125 (gene set migration)
Mitochondrial disease v2.0 ATP5F1E Gene symbol changed from ATP5E to ATP5F1E during gene set migration (ENSG00000124172 -> ENSG00000124172)
Mitochondrial disease v2.0 TYMP Gene migrated from ENSG00000025708 to ENSG00000025708 (gene set migration)
Mitochondrial disease v2.0 RNF213 Gene migrated from ENSG00000173821 to ENSG00000173821 (gene set migration)
Mitochondrial disease v2.0 SLC25A36 Gene migrated from ENSG00000114120 to ENSG00000114120 (gene set migration)
Mitochondrial disease v2.0 TEFM Gene migrated from ENSG00000172171 to ENSG00000172171 (gene set migration)
Mitochondrial disease v2.0 OGDH Gene migrated from ENSG00000105953 to ENSG00000105953 (gene set migration)
Mitochondrial disease v2.0 BOLA3 Gene migrated from ENSG00000163170 to ENSG00000163170 (gene set migration)
Mitochondrial disease v2.0 TIMMDC1 Gene migrated from ENSG00000113845 to ENSG00000113845 (gene set migration)
Mitochondrial disease v2.0 LETM1 Gene migrated from ENSG00000168924 to ENSG00000168924 (gene set migration)
Mitochondrial disease v2.0 AFG3L2 Gene migrated from ENSG00000141385 to ENSG00000141385 (gene set migration)
Mitochondrial disease v2.0 TANGO2 Gene migrated from ENSG00000183597 to ENSG00000183597 (gene set migration)
Mitochondrial disease v2.0 LIAS Gene migrated from ENSG00000121897 to ENSG00000121897 (gene set migration)
Mitochondrial disease v2.0 GFM2 Gene migrated from ENSG00000164347 to ENSG00000164347 (gene set migration)
Mitochondrial disease v2.0 PRORP Gene symbol changed from KIAA0391 to PRORP during gene set migration (ENSG00000100890 -> ENSG00000100890)
Mitochondrial disease v2.0 NDUFV2 Gene migrated from ENSG00000178127 to ENSG00000178127 (gene set migration)
Mitochondrial disease v2.0 NUBPL Gene migrated from ENSG00000151413 to ENSG00000151413 (gene set migration)
Mitochondrial disease v2.0 RNASEH1 Gene migrated from ENSG00000171865 to ENSG00000171865 (gene set migration)
Mitochondrial disease v2.0 NDUFS6 Gene migrated from ENSG00000145494 to ENSG00000145494 (gene set migration)
Mitochondrial disease v2.0 TUFM Gene migrated from ENSG00000178952 to ENSG00000178952 (gene set migration)
Mitochondrial disease v2.0 NDUFS3 Gene migrated from ENSG00000213619 to ENSG00000213619 (gene set migration)
Mitochondrial disease v2.0 NDUFS2 Gene migrated from ENSG00000158864 to ENSG00000158864 (gene set migration)
Mitochondrial disease v2.0 NDUFS1 Gene migrated from ENSG00000023228 to ENSG00000023228 (gene set migration)
Mitochondrial disease v2.0 NARS2 Gene migrated from ENSG00000137513 to ENSG00000137513 (gene set migration)
Mitochondrial disease v2.0 FOXRED1 Gene migrated from ENSG00000110074 to ENSG00000110074 (gene set migration)
Mitochondrial disease v2.0 NDUFA10 Gene migrated from ENSG00000130414 to ENSG00000130414 (gene set migration)
Mitochondrial disease v2.0 EARS2 Gene migrated from ENSG00000103356 to ENSG00000103356 (gene set migration)
Mitochondrial disease v2.0 MRPS2 Gene migrated from ENSG00000122140 to ENSG00000122140 (gene set migration)
Mitochondrial disease v2.0 COX15 Gene migrated from ENSG00000014919 to ENSG00000014919 (gene set migration)
Mitochondrial disease v2.0 MPC1 Gene migrated from ENSG00000060762 to ENSG00000060762 (gene set migration)
Mitochondrial disease v2.0 MTFMT Gene migrated from ENSG00000103707 to ENSG00000103707 (gene set migration)
Mitochondrial disease v2.0 NDUFB8 Gene migrated from ENSG00000166136 to ENSG00000166136 (gene set migration)
Mitochondrial disease v2.0 UQCRC2 Gene migrated from ENSG00000140740 to ENSG00000140740 (gene set migration)
Mitochondrial disease v2.0 NDUFAF4 Gene migrated from ENSG00000123545 to ENSG00000123545 (gene set migration)
Mitochondrial disease v2.0 MTO1 Gene migrated from ENSG00000135297 to ENSG00000135297 (gene set migration)
Mitochondrial disease v2.0 NDUFAF3 Gene migrated from ENSG00000178057 to ENSG00000178057 (gene set migration)
Mitochondrial disease v2.0 NDUFA2 Gene migrated from ENSG00000131495 to ENSG00000131495 (gene set migration)
Mitochondrial disease v2.0 YARS2 Gene migrated from ENSG00000139131 to ENSG00000139131 (gene set migration)
Mitochondrial disease v2.0 CRLS1 Gene migrated from ENSG00000088766 to ENSG00000088766 (gene set migration)
Mitochondrial disease v2.0 CLPB Gene migrated from ENSG00000162129 to ENSG00000162129 (gene set migration)
Mitochondrial disease v2.0 COX4I1 Gene migrated from ENSG00000131143 to ENSG00000131143 (gene set migration)
Mitochondrial disease v2.0 NFS1 Gene migrated from ENSG00000244005 to ENSG00000244005 (gene set migration)
Mitochondrial disease v2.0 ABCB7 Gene migrated from ENSG00000131269 to ENSG00000131269 (gene set migration)
Mitochondrial disease v2.0 TOP3A Gene migrated from ENSG00000177302 to ENSG00000177302 (gene set migration)
Mitochondrial disease v2.0 NFU1 Gene migrated from ENSG00000169599 to ENSG00000169599 (gene set migration)
Mitochondrial disease v2.0 NDUFAF2 Gene migrated from ENSG00000164182 to ENSG00000164182 (gene set migration)
Mitochondrial disease v2.0 GLRX5 Gene migrated from ENSG00000182512 to ENSG00000182512 (gene set migration)
Mitochondrial disease v2.0 SDHD Gene migrated from ENSG00000204370 to ENSG00000204370 (gene set migration)
Mitochondrial disease v2.0 SDHAF1 Gene migrated from ENSG00000205138 to ENSG00000205138 (gene set migration)
Mitochondrial disease v2.0 DNAJC30 Gene migrated from ENSG00000176410 to ENSG00000176410 (gene set migration)
Mitochondrial disease v2.0 NDUFAF1 Gene migrated from ENSG00000137806 to ENSG00000137806 (gene set migration)
Mitochondrial disease v2.0 SHMT2 Gene migrated from ENSG00000182199 to ENSG00000182199 (gene set migration)
Mitochondrial disease v2.0 PDSS1 Gene migrated from ENSG00000148459 to ENSG00000148459 (gene set migration)
Mitochondrial disease v2.0 IBA57 Gene migrated from ENSG00000181873 to ENSG00000181873 (gene set migration)
Mitochondrial disease v2.0 NAXE Gene migrated from ENSG00000163382 to ENSG00000163382 (gene set migration)
Mitochondrial disease v2.0 ISCA2 Gene migrated from ENSG00000165898 to ENSG00000165898 (gene set migration)
Mitochondrial disease v2.0 ECHS1 Gene migrated from ENSG00000127884 to ENSG00000127884 (gene set migration)
Mitochondrial disease v2.0 CHCHD10 Gene migrated from ENSG00000250479 to ENSG00000250479 (gene set migration)
Mitochondrial disease v2.0 NDUFA5 Gene migrated from ENSG00000128609 to ENSG00000128609 (gene set migration)
Mitochondrial disease v2.0 HARS2 Gene migrated from ENSG00000112855 to ENSG00000112855 (gene set migration)
Mitochondrial disease v2.0 ACO2 Gene migrated from ENSG00000100412 to ENSG00000100412 (gene set migration)
Mitochondrial disease v2.0 NDUFAF6 Gene migrated from ENSG00000156170 to ENSG00000156170 (gene set migration)
Mitochondrial disease v2.0 NDUFB11 Gene migrated from ENSG00000147123 to ENSG00000147123 (gene set migration)
Mitochondrial disease v2.0 MRPL44 Gene migrated from ENSG00000135900 to ENSG00000135900 (gene set migration)
Mitochondrial disease v2.0 AARS2 Gene migrated from ENSG00000124608 to ENSG00000124608 (gene set migration)
Mitochondrial disease v2.0 HPDL Gene migrated from ENSG00000186603 to ENSG00000186603 (gene set migration)
Mitochondrial disease v2.0 GARS1 Gene symbol changed from GARS to GARS1 during gene set migration (ENSG00000106105 -> ENSG00000106105)
Mitochondrial disease v2.0 OXA1L Gene migrated from ENSG00000155463 to ENSG00000155463 (gene set migration)
Mitochondrial disease v2.0 MICU1 Gene migrated from ENSG00000107745 to ENSG00000107745 (gene set migration)
Mitochondrial disease v2.0 COX6A2 Gene migrated from ENSG00000156885 to ENSG00000156885 (gene set migration)
Mitochondrial disease v2.0 COA8 Gene symbol changed from APOPT1 to COA8 during gene set migration (ENSG00000256053 -> ENSG00000256053)
Mitochondrial disease v2.0 ABAT Gene migrated from ENSG00000183044 to ENSG00000183044 (gene set migration)
Mitochondrial disease v2.0 TARS2 Gene migrated from ENSG00000143374 to ENSG00000143374 (gene set migration)
Mitochondrial disease v2.0 TWNK Gene migrated from ENSG00000107815 to ENSG00000107815 (gene set migration)
Mitochondrial disease v2.0 MECR Gene migrated from ENSG00000116353 to ENSG00000116353 (gene set migration)
Mitochondrial disease v2.0 AMACR Gene migrated from ENSG00000242110 to ENSG00000242110 (gene set migration)
Mitochondrial disease v2.0 MRPS23 Gene migrated from ENSG00000181610 to ENSG00000181610 (gene set migration)
Mitochondrial disease v2.0 PET100 Gene migrated from ENSG00000229833 to ENSG00000229833 (gene set migration)
Mitochondrial disease v2.0 COX20 Gene migrated from ENSG00000203667 to ENSG00000203667 (gene set migration)
Mitochondrial disease v2.0 TACO1 Gene migrated from ENSG00000136463 to ENSG00000136463 (gene set migration)
Mitochondrial disease v2.0 NDUFB10 Gene migrated from ENSG00000140990 to ENSG00000140990 (gene set migration)
Mitochondrial disease v2.0 ATP5F1D Gene symbol changed from ATP5D to ATP5F1D during gene set migration (ENSG00000099624 -> ENSG00000099624)
Mitochondrial disease v2.0 ATAD3A Gene migrated from ENSG00000197785 to ENSG00000197785 (gene set migration)
Mitochondrial disease v2.0 ELAC2 Gene migrated from ENSG00000006744 to ENSG00000006744 (gene set migration)
Mitochondrial disease v2.0 POLG2 Gene migrated from ENSG00000256525 to ENSG00000256525 (gene set migration)
Mitochondrial disease v2.0 MRPS22 Gene migrated from ENSG00000175110 to ENSG00000175110 (gene set migration)
Mitochondrial disease v2.0 CHKB Gene migrated from ENSG00000100288 to ENSG00000100288 (gene set migration)
Mitochondrial disease v2.0 C1QBP Gene migrated from ENSG00000108561 to ENSG00000108561 (gene set migration)
Mitochondrial disease v2.0 NDUFS4 Gene migrated from ENSG00000164258 to ENSG00000164258 (gene set migration)
Mitochondrial disease v2.0 VPS13C Gene migrated from ENSG00000129003 to ENSG00000129003 (gene set migration)
Mitochondrial disease v2.0 STAT2 Gene migrated from ENSG00000170581 to ENSG00000170581 (gene set migration)
Mitochondrial disease v2.0 SLC25A38 Gene migrated from ENSG00000144659 to ENSG00000144659 (gene set migration)
Mitochondrial disease v2.0 SLC25A32 Gene migrated from ENSG00000164933 to ENSG00000164933 (gene set migration)
Mitochondrial disease v2.0 SACS Gene migrated from ENSG00000151835 to ENSG00000151835 (gene set migration)
Mitochondrial disease v2.0 PDK3 Gene migrated from ENSG00000067992 to ENSG00000067992 (gene set migration)
Mitochondrial disease v2.0 PC Gene migrated from ENSG00000173599 to ENSG00000173599 (gene set migration)
Mitochondrial disease v2.0 NDUFA6 Gene migrated from ENSG00000184983 to ENSG00000184983 (gene set migration)
Mitochondrial disease v2.0 NADK2 Gene migrated from ENSG00000152620 to ENSG00000152620 (gene set migration)
Mitochondrial disease v2.0 MSTO1 Gene migrated from ENSG00000125459 to ENSG00000125459 (gene set migration)
Mitochondrial disease v2.0 ISCA1 Gene migrated from ENSG00000135070 to ENSG00000135070 (gene set migration)
Mitochondrial disease v2.0 HTRA2 Gene migrated from ENSG00000115317 to ENSG00000115317 (gene set migration)
Mitochondrial disease v2.0 GDAP1 Gene migrated from ENSG00000104381 to ENSG00000104381 (gene set migration)
Mitochondrial disease v2.0 DNM2 Gene migrated from ENSG00000079805 to ENSG00000079805 (gene set migration)
Mitochondrial disease v2.0 CYCS Gene migrated from ENSG00000172115 to ENSG00000172115 (gene set migration)
Mitochondrial disease v2.0 CA5A Gene migrated from ENSG00000174990 to ENSG00000174990 (gene set migration)
Mitochondrial disease v2.0 FXN Gene migrated from ENSG00000165060 to ENSG00000165060 (gene set migration)
Mitochondrial disease v2.0 HLCS Gene migrated from ENSG00000159267 to ENSG00000159267 (gene set migration)
Mitochondrial disease v2.0 ETFB Gene migrated from ENSG00000105379 to ENSG00000105379 (gene set migration)
Mitochondrial disease v2.0 ETFA Gene migrated from ENSG00000140374 to ENSG00000140374 (gene set migration)
Mitochondrial disease v2.0 ETFDH Gene migrated from ENSG00000171503 to ENSG00000171503 (gene set migration)
Mitochondrial disease v2.0 CHCHD2 Gene migrated from ENSG00000106153 to ENSG00000106153 (gene set migration)
Mitochondrial disease v2.0 IDH3A Gene migrated from ENSG00000166411 to ENSG00000166411 (gene set migration)
Mitochondrial disease v2.0 PNPT1 Gene migrated from ENSG00000138035 to ENSG00000138035 (gene set migration)
Mitochondrial disease v2.0 PITRM1 Gene migrated from ENSG00000107959 to ENSG00000107959 (gene set migration)
Mitochondrial disease v2.0 SLC22A5 Gene migrated from ENSG00000197375 to ENSG00000197375 (gene set migration)
Mitochondrial disease v2.0 QARS1 Gene symbol changed from QARS to QARS1 during gene set migration (ENSG00000172053 -> ENSG00000172053)
Mitochondrial disease v2.0 CISD2 Gene migrated from ENSG00000145354 to ENSG00000145354 (gene set migration)
Mitochondrial disease v2.0 MT-TW Gene migrated from ENSG00000210117 to ENSG00000210117 (gene set migration)
Mitochondrial disease v2.0 GFER Gene migrated from ENSG00000127554 to ENSG00000127554 (gene set migration)
Mitochondrial disease v2.0 NAXD Gene migrated from ENSG00000213995 to ENSG00000213995 (gene set migration)
Mitochondrial disease v2.0 NNT Gene migrated from ENSG00000112992 to ENSG00000112992 (gene set migration)
Mitochondrial disease v2.0 PLA2G6 Gene migrated from ENSG00000184381 to ENSG00000184381 (gene set migration)
Mitochondrial disease v2.0 D2HGDH Gene migrated from ENSG00000180902 to ENSG00000180902 (gene set migration)
Mitochondrial disease v2.0 IDH2 Gene migrated from ENSG00000182054 to ENSG00000182054 (gene set migration)
Mitochondrial disease v2.0 PANK2 Gene migrated from ENSG00000125779 to ENSG00000125779 (gene set migration)
Mitochondrial disease v2.0 MT-TR Gene migrated from ENSG00000210174 to ENSG00000210174 (gene set migration)
Mitochondrial disease v2.0 AFG2A Gene symbol changed from SPATA5 to AFG2A during gene set migration (ENSG00000145375 -> ENSG00000145375)
Mitochondrial disease v2.0 PPOX Gene migrated from ENSG00000143224 to ENSG00000143224 (gene set migration)
Mitochondrial disease v2.0 HADHB Gene migrated from ENSG00000138029 to ENSG00000138029 (gene set migration)
Mitochondrial disease v2.0 PNPLA8 Gene migrated from ENSG00000135241 to ENSG00000135241 (gene set migration)
Mitochondrial disease v2.0 HADHA Gene migrated from ENSG00000084754 to ENSG00000084754 (gene set migration)
Mitochondrial disease v2.0 MT-TK Gene migrated from ENSG00000210156 to ENSG00000210156 (gene set migration)
Mitochondrial disease v2.0 HADH Gene migrated from ENSG00000138796 to ENSG00000138796 (gene set migration)
Mitochondrial disease v2.0 CPT2 Gene migrated from ENSG00000157184 to ENSG00000157184 (gene set migration)
Mitochondrial disease v2.0 NDUFA9 Gene migrated from ENSG00000139180 to ENSG00000139180 (gene set migration)
Mitochondrial disease v2.0 CPT1A Gene migrated from ENSG00000110090 to ENSG00000110090 (gene set migration)
Mitochondrial disease v2.0 MT-TF Gene migrated from ENSG00000210049 to ENSG00000210049 (gene set migration)
Mitochondrial disease v2.0 ACADVL Gene migrated from ENSG00000072778 to ENSG00000072778 (gene set migration)
Mitochondrial disease v2.0 PARS2 Gene migrated from ENSG00000162396 to ENSG00000162396 (gene set migration)
Mitochondrial disease v2.0 UQCRFS1 Gene migrated from ENSG00000169021 to ENSG00000169021 (gene set migration)
Mitochondrial disease v2.0 ACADM Gene migrated from ENSG00000117054 to ENSG00000117054 (gene set migration)
Mitochondrial disease v2.0 MORC2 Gene migrated from ENSG00000133422 to ENSG00000133422 (gene set migration)
Mitochondrial disease v2.0 NDUFAF8 Gene migrated from ENSG00000224877 to ENSG00000224877 (gene set migration)
Mitochondrial disease v2.0 OXCT1 Gene migrated from ENSG00000083720 to ENSG00000083720 (gene set migration)
Mitochondrial disease v2.0 HMGCS2 Gene migrated from ENSG00000134240 to ENSG00000134240 (gene set migration)
Mitochondrial disease v2.0 HMGCL Gene migrated from ENSG00000117305 to ENSG00000117305 (gene set migration)
Mitochondrial disease v2.0 MRPL3 Gene migrated from ENSG00000114686 to ENSG00000114686 (gene set migration)
Mitochondrial disease v2.0 SLC25A20 Gene migrated from ENSG00000178537 to ENSG00000178537 (gene set migration)
Mitochondrial disease v2.0 TFAM Gene migrated from ENSG00000108064 to ENSG00000108064 (gene set migration)
Mitochondrial disease v2.0 MICOS13 Gene symbol changed from C19orf70 to MICOS13 during gene set migration (ENSG00000174917 -> ENSG00000174917)
Mitochondrial disease v2.0 MT-ND1 Gene migrated from ENSG00000198888 to ENSG00000198888 (gene set migration)
Mitochondrial disease v2.0 SLC25A24 Gene migrated from ENSG00000085491 to ENSG00000085491 (gene set migration)
Mitochondrial disease v2.0 LIG3 Gene migrated from ENSG00000005156 to ENSG00000005156 (gene set migration)
Mitochondrial disease v2.0 MIPEP Gene migrated from ENSG00000027001 to ENSG00000027001 (gene set migration)
Mitochondrial disease v2.0 TRMT5 Gene migrated from ENSG00000126814 to ENSG00000126814 (gene set migration)
Mitochondrial disease v2.0 VARS2 Gene migrated from ENSG00000137411 to ENSG00000137411 (gene set migration)
Mitochondrial disease v2.0 C2orf69 Gene migrated from ENSG00000178074 to ENSG00000178074 (gene set migration)
Mitochondrial disease v2.0 SSBP1 Gene migrated from ENSG00000106028 to ENSG00000106028 (gene set migration)
Mitochondrial disease v2.0 FDX2 Gene migrated from ENSG00000267673 to ENSG00000267673 (gene set migration)
Mitochondrial disease v2.0 FASTKD2 Gene migrated from ENSG00000118246 to ENSG00000118246 (gene set migration)
Mitochondrial disease v2.0 FARS2 Gene migrated from ENSG00000145982 to ENSG00000145982 (gene set migration)
Mitochondrial disease v2.0 COX6B1 Gene migrated from ENSG00000126267 to ENSG00000126267 (gene set migration)
Mitochondrial disease v2.0 AGK Gene migrated from ENSG00000006530 to ENSG00000006530 (gene set migration)
Mitochondrial disease v2.0 MT-ATP6 Gene migrated from ENSG00000198899 to ENSG00000198899 (gene set migration)
Mitochondrial disease v2.0 TMEM126B Gene migrated from ENSG00000171204 to ENSG00000171204 (gene set migration)
Mitochondrial disease v2.0 SLC25A26 Gene migrated from ENSG00000144741 to ENSG00000144741 (gene set migration)
Mitochondrial disease v2.0 SLC25A3 Gene migrated from ENSG00000075415 to ENSG00000075415 (gene set migration)
Mitochondrial disease v2.0 SLC25A4 Gene migrated from ENSG00000151729 to ENSG00000151729 (gene set migration)
Mitochondrial disease v2.0 SLC25A42 Gene migrated from ENSG00000181035 to ENSG00000181035 (gene set migration)
Mitochondrial disease v2.0 MTX2 Gene migrated from ENSG00000128654 to ENSG00000128654 (gene set migration)
Mitochondrial disease v2.0 COX11 Gene migrated from ENSG00000166260 to ENSG00000166260 (gene set migration)
Mitochondrial disease v2.0 SLC52A2 Gene migrated from ENSG00000185803 to ENSG00000185803 (gene set migration)
Mitochondrial disease v2.0 NDUFB3 Gene migrated from ENSG00000119013 to ENSG00000119013 (gene set migration)
Mitochondrial disease v2.0 SLC52A3 Gene migrated from ENSG00000101276 to ENSG00000101276 (gene set migration)
Mitochondrial disease v2.0 TTC19 Gene migrated from ENSG00000011295 to ENSG00000011295 (gene set migration)
Mitochondrial disease v2.0 TRIT1 Gene migrated from ENSG00000043514 to ENSG00000043514 (gene set migration)
Mitochondrial disease v2.0 SURF1 Gene migrated from ENSG00000148290 to ENSG00000148290 (gene set migration)
Mitochondrial disease v2.0 SUCLG1 Gene migrated from ENSG00000163541 to ENSG00000163541 (gene set migration)
Mitochondrial disease v2.0 SLC25A1 Gene migrated from ENSG00000100075 to ENSG00000100075 (gene set migration)
Mitochondrial disease v2.0 SFXN4 Gene migrated from ENSG00000183605 to ENSG00000183605 (gene set migration)
Mitochondrial disease v2.0 PMPCB Gene migrated from ENSG00000105819 to ENSG00000105819 (gene set migration)
Mitochondrial disease v2.0 NDUFV1 Gene migrated from ENSG00000167792 to ENSG00000167792 (gene set migration)
Mitochondrial disease v2.0 COX6A1 Gene migrated from ENSG00000111775 to ENSG00000111775 (gene set migration)
Mitochondrial disease v2.0 MGME1 Gene migrated from ENSG00000125871 to ENSG00000125871 (gene set migration)
Mitochondrial disease v2.0 LIPT1 Gene migrated from ENSG00000144182 to ENSG00000144182 (gene set migration)
Mitochondrial disease v2.0 ISCU Gene migrated from ENSG00000136003 to ENSG00000136003 (gene set migration)
Mitochondrial disease v2.0 IARS2 Gene migrated from ENSG00000067704 to ENSG00000067704 (gene set migration)
Mitochondrial disease v2.0 HSD17B10 Gene migrated from ENSG00000072506 to ENSG00000072506 (gene set migration)
Mitochondrial disease v2.0 HIBCH Gene migrated from ENSG00000198130 to ENSG00000198130 (gene set migration)
Mitochondrial disease v2.0 RMND1 Gene migrated from ENSG00000155906 to ENSG00000155906 (gene set migration)
Mitochondrial disease v2.0 ETHE1 Gene migrated from ENSG00000105755 to ENSG00000105755 (gene set migration)
Mitochondrial disease v2.0 DNAJC19 Gene migrated from ENSG00000205981 to ENSG00000205981 (gene set migration)
Mitochondrial disease v2.0 TAMM41 Gene migrated from ENSG00000144559 to ENSG00000144559 (gene set migration)
Mitochondrial disease v2.0 CYC1 Gene migrated from ENSG00000179091 to ENSG00000179091 (gene set migration)
Mitochondrial disease v2.0 MTRFR Gene symbol changed from C12orf65 to MTRFR during gene set migration (ENSG00000130921 -> ENSG00000130921)
Mitochondrial disease v2.0 MTPAP Gene migrated from ENSG00000107951 to ENSG00000107951 (gene set migration)
Mitochondrial disease v2.0 UQCRB Gene migrated from ENSG00000156467 to ENSG00000156467 (gene set migration)
Mitochondrial disease v2.0 TK2 Gene migrated from ENSG00000166548 to ENSG00000166548 (gene set migration)
Mitochondrial disease v2.0 TRAK1 Gene migrated from ENSG00000182606 to ENSG00000182606 (gene set migration)
Mitochondrial disease v2.0 GTPBP3 Gene migrated from ENSG00000130299 to ENSG00000130299 (gene set migration)
Mitochondrial disease v2.0 NDUFA12 Gene migrated from ENSG00000184752 to ENSG00000184752 (gene set migration)
Mitochondrial disease v2.0 TIMM50 Gene migrated from ENSG00000105197 to ENSG00000105197 (gene set migration)
Mitochondrial disease v2.0 SCO1 Gene migrated from ENSG00000133028 to ENSG00000133028 (gene set migration)
Mitochondrial disease v2.0 SDHB Gene migrated from ENSG00000117118 to ENSG00000117118 (gene set migration)
Mitochondrial disease v2.0 APTX Gene migrated from ENSG00000137074 to ENSG00000137074 (gene set migration)
Mitochondrial disease v2.0 COA7 Gene migrated from ENSG00000162377 to ENSG00000162377 (gene set migration)
Mitochondrial disease v2.0 COQ7 Gene migrated from ENSG00000167186 to ENSG00000167186 (gene set migration)
Mitochondrial disease v2.0 SLC25A46 Gene migrated from ENSG00000164209 to ENSG00000164209 (gene set migration)
Mitochondrial disease v2.0 MRPS34 Gene migrated from ENSG00000074071 to ENSG00000074071 (gene set migration)
Mitochondrial disease v2.0 COQ2 Gene migrated from ENSG00000173085 to ENSG00000173085 (gene set migration)
Mitochondrial disease v2.0 COX10 Gene migrated from ENSG00000006695 to ENSG00000006695 (gene set migration)
Mitochondrial disease v2.0 COA6 Gene migrated from ENSG00000168275 to ENSG00000168275 (gene set migration)
Mitochondrial disease v2.0 POLRMT Gene migrated from ENSG00000099821 to ENSG00000099821 (gene set migration)
Mitochondrial disease v2.0 CARS2 Gene migrated from ENSG00000134905 to ENSG00000134905 (gene set migration)
Mitochondrial disease v2.0 ACAT1 Gene migrated from ENSG00000075239 to ENSG00000075239 (gene set migration)
Mitochondrial disease v2.0 TOMM7 Gene migrated from ENSG00000196683 to ENSG00000196683 (gene set migration)
Mitochondrial disease v2.0 ACADSB Gene migrated from ENSG00000196177 to ENSG00000196177 (gene set migration)
Mitochondrial disease v2.0 NDUFB7 Gene migrated from ENSG00000099795 to ENSG00000099795 (gene set migration)
Mitochondrial disease v2.0 TPK1 Gene migrated from ENSG00000196511 to ENSG00000196511 (gene set migration)
Mitochondrial disease v2.0 UQCC2 Gene migrated from ENSG00000137288 to ENSG00000137288 (gene set migration)
Mitochondrial disease v2.0 TSFM Gene migrated from ENSG00000123297 to ENSG00000123297 (gene set migration)
Mitochondrial disease v2.0 TRNT1 Gene migrated from ENSG00000072756 to ENSG00000072756 (gene set migration)
Mitochondrial disease v2.0 WARS2 Gene migrated from ENSG00000116874 to ENSG00000116874 (gene set migration)
Mitochondrial disease v2.0 TRMT10C Gene migrated from ENSG00000174173 to ENSG00000174173 (gene set migration)
Mitochondrial disease v2.0 TMEM70 Gene migrated from ENSG00000175606 to ENSG00000175606 (gene set migration)
Mitochondrial disease v2.0 TIMM8A Gene migrated from ENSG00000126953 to ENSG00000126953 (gene set migration)
Mitochondrial disease v2.0 SUCLA2 Gene migrated from ENSG00000136143 to ENSG00000136143 (gene set migration)
Mitochondrial disease v2.0 SLC25A19 Gene migrated from ENSG00000125454 to ENSG00000125454 (gene set migration)
Mitochondrial disease v2.0 SLC19A3 Gene migrated from ENSG00000135917 to ENSG00000135917 (gene set migration)
Mitochondrial disease v2.0 SLC19A2 Gene migrated from ENSG00000117479 to ENSG00000117479 (gene set migration)
Mitochondrial disease v2.0 SERAC1 Gene migrated from ENSG00000122335 to ENSG00000122335 (gene set migration)
Mitochondrial disease v2.0 SDHA Gene migrated from ENSG00000073578 to ENSG00000073578 (gene set migration)
Mitochondrial disease v2.0 SCO2 Gene migrated from ENSG00000130489 to ENSG00000284194 (gene set migration)
Mitochondrial disease v2.0 SARS2 Gene migrated from ENSG00000104835 to ENSG00000104835 (gene set migration)
Mitochondrial disease v2.0 RTN4IP1 Gene migrated from ENSG00000130347 to ENSG00000130347 (gene set migration)
Mitochondrial disease v2.0 VPS13D Gene migrated from ENSG00000048707 to ENSG00000048707 (gene set migration)
Mitochondrial disease v2.0 PREPL Gene migrated from ENSG00000138078 to ENSG00000138078 (gene set migration)
Mitochondrial disease v2.0 PISD Gene migrated from ENSG00000241878 to ENSG00000241878 (gene set migration)
Mitochondrial disease v2.0 IDH3G Gene migrated from ENSG00000067829 to ENSG00000067829 (gene set migration)
Mitochondrial disease v2.0 HK1 Gene migrated from ENSG00000156515 to ENSG00000156515 (gene set migration)
Mitochondrial disease v2.0 GPT2 Gene migrated from ENSG00000166123 to ENSG00000166123 (gene set migration)
Mitochondrial disease v2.0 NDUFA3 Gene migrated from ENSG00000170906 to ENSG00000170906 (gene set migration)
Mitochondrial disease v2.0 COXFA4 Gene symbol changed from NDUFA4 to COXFA4 during gene set migration (ENSG00000189043 -> ENSG00000189043)
Mitochondrial disease v2.0 ATP5MC3 Gene symbol changed from ATP5G3 to ATP5MC3 during gene set migration (ENSG00000154518 -> ENSG00000154518)
Mitochondrial disease v2.0 TRMU Gene migrated from ENSG00000100416 to ENSG00000100416 (gene set migration)
Mitochondrial disease v2.0 RRM2B Gene migrated from ENSG00000048392 to ENSG00000048392 (gene set migration)
Mitochondrial disease v2.0 RARS2 Gene migrated from ENSG00000146282 to ENSG00000146282 (gene set migration)
Mitochondrial disease v2.0 PPA2 Gene migrated from ENSG00000138777 to ENSG00000138777 (gene set migration)
Mitochondrial disease v2.0 PDHX Gene migrated from ENSG00000110435 to ENSG00000110435 (gene set migration)
Mitochondrial disease v2.0 POLG Gene migrated from ENSG00000140521 to ENSG00000140521 (gene set migration)
Mitochondrial disease v2.0 OPA1 Gene migrated from ENSG00000198836 to ENSG00000198836 (gene set migration)
Mitochondrial disease v2.0 NDUFS8 Gene migrated from ENSG00000110717 to ENSG00000110717 (gene set migration)
Mitochondrial disease v2.0 NDUFS7 Gene migrated from ENSG00000115286 to ENSG00000115286 (gene set migration)
Mitochondrial disease v2.0 NDUFA1 Gene migrated from ENSG00000125356 to ENSG00000125356 (gene set migration)
Mitochondrial disease v2.0 LARS2 Gene migrated from ENSG00000011376 to ENSG00000011376 (gene set migration)
Mitochondrial disease v2.0 HSPD1 Gene migrated from ENSG00000144381 to ENSG00000144381 (gene set migration)
Mitochondrial disease v2.0 HCCS Gene migrated from ENSG00000004961 to ENSG00000004961 (gene set migration)
Mitochondrial disease v2.0 PDSS2 Gene migrated from ENSG00000164494 to ENSG00000164494 (gene set migration)
Mitochondrial disease v2.0 GFM1 Gene migrated from ENSG00000168827 to ENSG00000168827 (gene set migration)
Mitochondrial disease v2.0 FLAD1 Gene migrated from ENSG00000160688 to ENSG00000160688 (gene set migration)
Mitochondrial disease v2.0 DNM1L Gene migrated from ENSG00000087470 to ENSG00000087470 (gene set migration)
Mitochondrial disease v2.0 DNA2 Gene migrated from ENSG00000138346 to ENSG00000138346 (gene set migration)
Mitochondrial disease v2.0 LRPPRC Gene migrated from ENSG00000138095 to ENSG00000138095 (gene set migration)
Mitochondrial disease v2.0 PDP1 Gene migrated from ENSG00000164951 to ENSG00000164951 (gene set migration)
Mitochondrial disease v2.0 DLD Gene migrated from ENSG00000091140 to ENSG00000091140 (gene set migration)
Mitochondrial disease v2.0 DGUOK Gene migrated from ENSG00000114956 to ENSG00000114956 (gene set migration)
Mitochondrial disease v2.0 DARS2 Gene migrated from ENSG00000117593 to ENSG00000117593 (gene set migration)
Mitochondrial disease v2.0 PDHB Gene migrated from ENSG00000168291 to ENSG00000168291 (gene set migration)
Mitochondrial disease v2.0 CLPP Gene migrated from ENSG00000125656 to ENSG00000125656 (gene set migration)
Mitochondrial disease v2.0 BCS1L Gene migrated from ENSG00000074582 to ENSG00000074582 (gene set migration)
Mitochondrial disease v2.0 DLAT Gene migrated from ENSG00000150768 to ENSG00000150768 (gene set migration)
Mitochondrial disease v2.0 TMEM126A Gene migrated from ENSG00000171202 to ENSG00000171202 (gene set migration)
Mitochondrial disease v2.0 RMRP Gene migrated from ENSG00000269900 to ENSG00000277027 (gene set migration)
Mitochondrial disease v2.0 PAM16 Gene migrated from ENSG00000217930 to ENSG00000217930 (gene set migration)
Mitochondrial disease v2.0 GPD1 Gene migrated from ENSG00000167588 to ENSG00000167588 (gene set migration)
Mitochondrial disease v2.0 HSPA9 Gene migrated from ENSG00000113013 to ENSG00000113013 (gene set migration)
Mitochondrial disease v2.0 L2HGDH Gene migrated from ENSG00000087299 to ENSG00000087299 (gene set migration)
Mitochondrial disease v2.0 AIFM1 Gene migrated from ENSG00000156709 to ENSG00000156709 (gene set migration)
Mitochondrial disease v2.0 NDUFAF5 Gene migrated from ENSG00000101247 to ENSG00000101247 (gene set migration)
Mitochondrial disease v2.0 MPV17 Gene migrated from ENSG00000115204 to ENSG00000115204 (gene set migration)
Mitochondrial disease v2.0 COX7B Gene migrated from ENSG00000131174 to ENSG00000131174 (gene set migration)
Mitochondrial disease v2.0 MFN2 Gene migrated from ENSG00000116688 to ENSG00000116688 (gene set migration)
Mitochondrial disease v2.0 COQ9 Gene migrated from ENSG00000088682 to ENSG00000088682 (gene set migration)
Mitochondrial disease v2.0 TAFAZZIN Gene symbol changed from TAZ to TAFAZZIN during gene set migration (ENSG00000102125 -> ENSG00000102125)
Mitochondrial disease v2.0 MFF Gene migrated from ENSG00000168958 to ENSG00000168958 (gene set migration)
Mitochondrial disease v2.0 COQ8A Gene migrated from ENSG00000163050 to ENSG00000163050 (gene set migration)
Mitochondrial disease v2.0 MT-CO3 Gene migrated from ENSG00000198938 to ENSG00000198938 (gene set migration)
Mitochondrial disease v2.0 COQ8B Gene migrated from ENSG00000123815 to ENSG00000123815 (gene set migration)
Mitochondrial disease v2.0 LYRM7 Gene migrated from ENSG00000186687 to ENSG00000186687 (gene set migration)
Mitochondrial disease v2.0 FH Gene migrated from ENSG00000091483 to ENSG00000091483 (gene set migration)
Mitochondrial disease v2.0 COQ6 Gene migrated from ENSG00000119723 to ENSG00000119723 (gene set migration)
Mitochondrial disease v2.0 KARS1 Gene symbol changed from KARS to KARS1 during gene set migration (ENSG00000065427 -> ENSG00000065427)
Mitochondrial disease v2.0 MDH2 Gene migrated from ENSG00000146701 to ENSG00000146701 (gene set migration)
Mitochondrial disease v2.0 MT-TS2 Gene migrated from ENSG00000210184 to ENSG00000210184 (gene set migration)
Mitochondrial disease v2.0 MT-TM Gene migrated from ENSG00000210112 to ENSG00000210112 (gene set migration)
Mitochondrial disease v2.0 MT-TP Gene migrated from ENSG00000210196 to ENSG00000210196 (gene set migration)
Mitochondrial disease v2.0 MT-TL2 Gene migrated from ENSG00000210191 to ENSG00000210191 (gene set migration)
Mitochondrial disease v2.0 MT-TL1 Gene migrated from ENSG00000209082 to ENSG00000209082 (gene set migration)
Mitochondrial disease v2.0 MT-TI Gene migrated from ENSG00000210100 to ENSG00000210100 (gene set migration)
Mitochondrial disease v2.0 MT-TH Gene migrated from ENSG00000210176 to ENSG00000210176 (gene set migration)
Mitochondrial disease v2.0 MT-TG Gene migrated from ENSG00000210164 to ENSG00000210164 (gene set migration)
Mitochondrial disease v2.0 ACAD9 Gene migrated from ENSG00000177646 to ENSG00000177646 (gene set migration)
Mitochondrial disease v2.0 COASY Gene migrated from ENSG00000068120 to ENSG00000068120 (gene set migration)
Mitochondrial disease v2.0 Panel migrated to gene set Ensemblv115. Source version: v1.25
Mitochondrial disease v1.25 MT-ATP8 Chern Lim reviewed gene: MT-ATP8: Rating: AMBER; Mode of pathogenicity: None; Publications: 40241304; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL; Current diagnostic: yes
Mitochondrial disease v1.25 MT-TN Zornitza Stark Phenotypes for gene: MT-TN were changed from mitochondrial disease MONDO:0044970, MT-TN related to mitochondrial disease MONDO:0044970, MT-TN related
Mitochondrial disease v1.25 MT-TN Zornitza Stark Phenotypes for gene: MT-TN were changed from Mitochondrial myopathy to mitochondrial disease MONDO:0044970, MT-TN related
Mitochondrial disease v1.24 MT-TN Zornitza Stark edited their review of gene: MT-TN: Changed phenotypes: mitochondrial disease MONDO:0044970, MT-TN related
Mitochondrial disease v1.24 MT-TN Zornitza Stark commented on gene: MT-TN: DEFINITIVE by ClinGen.

A variant in MT-TN first reported in a 27 yo woman with a history of PEO since 9 months of age, myopathy, decreased deep tendon reflexes, and thin body habitus. Subsequent publications have shown a consistent phenotype including ptosis, PEO, myopathy, neuropathy, with or without ataxia, muscle biopsy with COX-negative and ragged red fibers, and often either a complex IV deficiency in muscle or combined OXPHOS defect. One patient has been reported with basal ganglia calcifications and seizures in addition to myopathy and faltering growth (PMID:16908752). Two patients have been reported with focal segmental glomerular sclerosis (FSGS), which is a renal manifestation of some primary mitochondrial diseases (PMIDs: 16908752, 23375258).
Mitochondrial disease v1.24 TMEM65 Zornitza Stark Publications for gene: TMEM65 were set to 28295037
Mitochondrial disease v1.23 TMEM65 Zornitza Stark edited their review of gene: TMEM65: Added comment: PMID 41980949 provides mouse whole‑body, neuronal‑specific and skeletal‑muscle‑specific TMEM65 knockout models that recapitulate severe mitochondrial encephalomyopathy and adult‑onset myopathy; rescue of early lethality by MCU knockout demonstrates that loss‑of‑function of TMEM65 is pathogenic.; Changed publications: 28295037, 41980949
Mitochondrial disease v1.23 CHCHD4 Zornitza Stark Marked gene: CHCHD4 as ready
Mitochondrial disease v1.23 CHCHD4 Zornitza Stark Gene: chchd4 has been classified as Red List (Low Evidence).
Mitochondrial disease v1.23 Zornitza Stark Copied gene CHCHD4 from panel Mendeliome
Mitochondrial disease v1.23 CHCHD4 Zornitza Stark gene: CHCHD4 was added
gene: CHCHD4 was added to Mitochondrial disease. Sources: Expert Review Red,Literature
Mode of inheritance for gene: CHCHD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHCHD4 were set to 41981912; 26004228
Phenotypes for gene: CHCHD4 were set to Mitochondrial disease, MONDO:0044970, CHCHD4-related
Mitochondrial disease v1.22 TOMM7 Zornitza Stark Publications for gene: TOMM7 were set to 36299998; 36282599
Mitochondrial disease v1.21 TOMM7 Zornitza Stark Classified gene: TOMM7 as Green List (high evidence)
Mitochondrial disease v1.21 TOMM7 Zornitza Stark Gene: tomm7 has been classified as Green List (High Evidence).
Mitochondrial disease v1.20 TOMM7 Zornitza Stark edited their review of gene: TOMM7: Changed rating: GREEN
Mitochondrial disease v1.20 TOMM7 Zornitza Stark edited their review of gene: TOMM7: Added comment: TOMM7 encodes translocase of outer mitochondrial membrane 7 which is involved in transporting relevant proteins from the cytosol to the mitochondrial membrane.

PMIDs 36282599, 39615461 report 10 individuals from 8 unrelated families with a recurrent biallelic TOMM7 missense variant - p.(Pro29Leu).
The clinical presentation encompassed a progeroid syndrome with severe short stature (-4 to -7SD), mandibular hypoplasia, facial dysmorphism, atrophic macular scarring, microcephaly and moyamoya disease (5/10)

Functional studies in patient cells showed differing results based on cell type. Supportive knockout mouse and zebrafish studies. Mechanism of recurrent missense variant not fully elucidated.; Changed publications: 36299998, 36282599, 39615461
Mitochondrial disease v1.20 OXA1L Zornitza Stark Publications for gene: OXA1L were set to 30201738
Mitochondrial disease v1.19 OXA1L Zornitza Stark Classified gene: OXA1L as Green List (high evidence)
Mitochondrial disease v1.19 OXA1L Zornitza Stark Gene: oxa1l has been classified as Green List (High Evidence).
Mitochondrial disease v1.18 OXA1L Zornitza Stark reviewed gene: OXA1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 40551575, 30201738; Phenotypes: Combined oxidative phosphorylation deficiency (MONDO:0000732), OXA1L-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v1.18 OXA1L Zornitza Stark Deleted their review
Mitochondrial disease v1.18 NDUFA5 Zornitza Stark Marked gene: NDUFA5 as ready
Mitochondrial disease v1.18 NDUFA5 Zornitza Stark Gene: ndufa5 has been classified as Green List (High Evidence).
Mitochondrial disease v1.18 NDUFA5 Zornitza Stark Phenotypes for gene: NDUFA5 were changed from Complex I deficiency to Mitochondrial disease, MONDO:0044970, NDUFA5-related
Mitochondrial disease v1.17 NDUFA5 Zornitza Stark reviewed gene: NDUFA5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial disease, MONDO:0044970, NDUFA5-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v1.17 NDUFA5 Zornitza Stark Classified gene: NDUFA5 as Green List (high evidence)
Mitochondrial disease v1.17 NDUFA5 Zornitza Stark Gene: ndufa5 has been classified as Green List (High Evidence).
Mitochondrial disease v1.16 NDUFA5 Natalie Tan gene: NDUFA5 was added
gene: NDUFA5 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: NDUFA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA5 were set to 41916321
Phenotypes for gene: NDUFA5 were set to Complex I deficiency
Penetrance for gene: NDUFA5 were set to Complete
Review for gene: NDUFA5 was set to GREEN
Added comment: PMID:41916321 reports 4 individuals from 3 unrelated families with biallelic variants in NDUFA5, associated with a multi-system mitochondriopathy characterised by a complex I deficiency that was functionally confirmed via transcriptomics, proteomics and respiratory chain enzymology.
Sources: Literature
Mitochondrial disease v1.16 MT-TY Zornitza Stark Tag somatic was removed from gene: MT-TY.
Mitochondrial disease v1.16 C17orf80 Zornitza Stark Marked gene: C17orf80 as ready
Mitochondrial disease v1.16 C17orf80 Zornitza Stark Gene: c17orf80 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v1.16 Zornitza Stark Copied gene C17orf80 from panel Mendeliome
Mitochondrial disease v1.16 C17orf80 Zornitza Stark gene: C17orf80 was added
gene: C17orf80 was added to Mitochondrial disease. Sources: Expert Review Amber,Literature
new gene name tags were added to gene: C17orf80.
Mode of inheritance for gene: C17orf80 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C17orf80 were set to 41720819
Phenotypes for gene: C17orf80 were set to Mitochondrial disease, MONDO:0044970
Mitochondrial disease v1.15 ATP5B Zornitza Stark Phenotypes for gene: ATP5B were changed from Dystonia 38, susceptibility to, MIM# 621502; Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085 to Dystonia 38, susceptibility to, MIM# 621502; Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085
Mitochondrial disease v1.15 ATP5B Zornitza Stark Phenotypes for gene: ATP5B were changed from Inherited dystonia, MONDO:0044807, ATP5B-related; Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085 to Dystonia 38, susceptibility to, MIM# 621502; Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085
Mitochondrial disease v1.14 ATP5B Zornitza Stark edited their review of gene: ATP5B: Changed phenotypes: Dystonia 38, susceptibility to, MIM# 621502, Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085
Mitochondrial disease v1.14 COX18 Zornitza Stark Phenotypes for gene: COX18 were changed from Mitochondrial disease (MONDO:0044970), COX18-related to Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487; Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488
Mitochondrial disease v1.13 COX18 Zornitza Stark reviewed gene: COX18: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 25, MIM# 621487, Charcot-Marie-Tooth disease, axonal, type 2MM, MIM# 621488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v1.13 OXA1L Zornitza Stark Phenotypes for gene: OXA1L were changed from encephalopathy; hypotonia; developmental delay to OXA1L-related combined oxidative phosphorylation deficiency MONDO:0000732
Mitochondrial disease v1.12 OXA1L Zornitza Stark edited their review of gene: OXA1L: Changed phenotypes: OXA1L-related combined oxidative phosphorylation deficiency MONDO:0000732
Mitochondrial disease v1.12 NDUFA3 Zornitza Stark Classified gene: NDUFA3 as Green List (high evidence)
Mitochondrial disease v1.12 NDUFA3 Zornitza Stark Gene: ndufa3 has been classified as Green List (High Evidence).
Mitochondrial disease v1.11 NDUFA3 Zornitza Stark edited their review of gene: NDUFA3: Added comment: Third unrelated family reported in PMID 41404351, intronic variants with abnormal splicing demonstrated.; Changed rating: GREEN; Changed publications: 41038977, 39661167, 41404351
Mitochondrial disease v1.11 DLAT Zornitza Stark reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disease v1.11 Sarah Milton Copied Region ISCA-37440-Loss from panel Common deletion and duplication syndromes
Mitochondrial disease v1.11 ISCA-37440-Loss Sarah Milton Region: ISCA-37440-Loss was added
Region: ISCA-37440-Loss was added to Mitochondrial disease. Sources: Expert Review Green,Expert list
Mode of inheritance for Region: ISCA-37440-Loss was set to BIALLELIC, autosomal or pseudoautosomal
Publications for Region: ISCA-37440-Loss were set to PMID: 18234729; 23794250
Phenotypes for Region: ISCA-37440-Loss were set to 2p21 deletion syndrome; Hypotonia-cystinuria syndrome, MIM# 606407
Mitochondrial disease v1.10 YME1L1 Zornitza Stark Phenotypes for gene: YME1L1 were changed from Optic atrophy 11 MIM#617302 to Optic atrophy 11 MIM#617302; Mitochondrial disease, MONDO:0044970, YME1L1-related
Mitochondrial disease v1.9 YME1L1 Zornitza Stark edited their review of gene: YME1L1: Changed phenotypes: Mitochondrial disease, MONDO:0044970, YME1L1-related
Mitochondrial disease v1.9 YME1L1 Zornitza Stark Publications for gene: YME1L1 were set to 30544562; 27495975
Mitochondrial disease v1.8 YME1L1 Zornitza Stark Deleted their comment
Mitochondrial disease v1.8 YME1L1 Zornitza Stark edited their review of gene: YME1L1: Added comment: PMID 40255048: Reports 2 individuals from a single family with a homozygous missense variant NM_014263.4:c.1999C>G (p.Leu667Val) presenting with childhood‑onset sensorineural hearing loss, developmental delay, basal ganglia MRI hyperintensity, and marked 3‑methylglutaconic and 3‑methylglutaric aciduria. Patient‑derived fibroblasts display abnormal OPA1 and PRELID1 processing, increased mitochondrial fragmentation, reduced citrate synthase and α‑ketoglutarate dehydrogenase activities, and diminished oxygen consumption, supporting a loss‑of‑function mechanism.; Changed publications: 30544562, 27495975, 40255048
Mitochondrial disease v1.8 ATP5B Zornitza Stark Phenotypes for gene: ATP5B were changed from Inherited dystonia, MONDO:0044807, ATP5B-related to Inherited dystonia, MONDO:0044807, ATP5B-related; Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085
Mitochondrial disease v1.7 ATP5B Zornitza Stark Publications for gene: ATP5B were set to 36860166; 36239646
Mitochondrial disease v1.6 ATP5B Zornitza Stark edited their review of gene: ATP5B: Added comment: PMID 40276935 reports another individual with a heterozygous splice‑donor variant c.1074+1G>T causing cerebral palsy with generalized dystonia.; Changed publications: 36860166, 36239646, 40276935
Mitochondrial disease v1.6 ATP5B Zornitza Stark edited their review of gene: ATP5B: Changed phenotypes: Inherited dystonia, MONDO:0044807, ATP5B-related, Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, MIM# 620085
Mitochondrial disease v1.6 NDUFB7 Zornitza Stark Phenotypes for gene: NDUFB7 were changed from Congenital lactic acidosis; hypertrophic cardiomyopathy to Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135
Mitochondrial disease v1.5 NDUFB7 Zornitza Stark Publications for gene: NDUFB7 were set to 33502047; 27626371
Mitochondrial disease v1.4 NDUFB7 Zornitza Stark Classified gene: NDUFB7 as Green List (high evidence)
Mitochondrial disease v1.4 NDUFB7 Zornitza Stark Gene: ndufb7 has been classified as Green List (High Evidence).
Mitochondrial disease v1.3 NDUFB7 Zornitza Stark edited their review of gene: NDUFB7: Added comment: PMID 40025060 reports second individual with compound heterozygous NM_004146.5:c.133_135del and NM_004146.5:c.311G>C variants presenting with lactic acidosis, premature birth, growth deficiency, ventral hernia, brain MRI pons abnormalities, developmental delay, and mild intellectual disability. Patient fibroblasts show Complex I assembly deficiency; zebrafish knockdown of ndufb7 reproduces brain ventricle and neuronal defects, elevated lactate. Two families only but strong biological candidate with good functional data from different systems.; Changed rating: GREEN; Changed publications: 40025060
Mitochondrial disease v1.3 USMG5 Zornitza Stark Tag new gene name tag was added to gene: USMG5.
Mitochondrial disease v1.3 USMG5 Zornitza Stark Publications for gene: USMG5 were set to 29917077; 30240627
Mitochondrial disease v1.2 USMG5 Zornitza Stark reviewed gene: USMG5: Rating: AMBER; Mode of pathogenicity: None; Publications: 40014158; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v1.2 COA5 Zornitza Stark Publications for gene: COA5 were set to 21457908
Mitochondrial disease v1.1 COA5 Zornitza Stark edited their review of gene: COA5: Added comment: Second family reported but same homozygous missense variant.; Changed publications: 21457908, 36641477
Mitochondrial disease v1.1 DNAJA3 Zornitza Stark Publications for gene: DNAJA3 were set to 34750646; 30770860
Mitochondrial disease v1.0 DNAJA3 Zornitza Stark edited their review of gene: DNAJA3: Added comment: PMID 41354729 describes a third unrelated family with compound heterozygous DNAJA3 missense variants presenting with isolated recurrent polyneuropathy. Retain Amber rating as the genetic and functional data are both limited.; Changed publications: 34750646, 30770860, 41354729
Mitochondrial disease v1.0 MT-TD Zornitza Stark commented on gene: MT-TD: Predominantly reported with mitochondrial myopathy.
Mitochondrial disease v1.0 TPK1 Zornitza Stark Marked gene: TPK1 as ready
Mitochondrial disease v1.0 TPK1 Zornitza Stark Gene: tpk1 has been classified as Green List (High Evidence).
Mitochondrial disease v1.0 Zornitza Stark promoted panel to version 1.0
Mitochondrial disease v0.1375 SDHC Zornitza Stark Marked gene: SDHC as ready
Mitochondrial disease v0.1375 SDHC Zornitza Stark Gene: sdhc has been classified as Red List (Low Evidence).
Mitochondrial disease v0.1375 SDHC Zornitza Stark reviewed gene: SDHC: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disease v0.1375 NUP62 Zornitza Stark Marked gene: NUP62 as ready
Mitochondrial disease v0.1375 NUP62 Zornitza Stark Gene: nup62 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.1375 ATPAF2 Zornitza Stark Marked gene: ATPAF2 as ready
Mitochondrial disease v0.1375 ATPAF2 Zornitza Stark Gene: atpaf2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.1375 ATPAF2 Zornitza Stark Phenotypes for gene: ATPAF2 were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, OMIM# 604273
Mitochondrial disease v0.1374 ATPAF2 Zornitza Stark Publications for gene: ATPAF2 were set to
Mitochondrial disease v0.1373 ATPAF2 Zornitza Stark Mode of inheritance for gene: ATPAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1372 WARS2 Zornitza Stark Marked gene: WARS2 as ready
Mitochondrial disease v0.1372 WARS2 Zornitza Stark Gene: wars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1372 WARS2 Zornitza Stark Phenotypes for gene: WARS2 were changed from to Parkinsonism-dystonia 3, childhood-onset, MIM# 619738; Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710
Mitochondrial disease v0.1371 WARS2 Zornitza Stark Publications for gene: WARS2 were set to
Mitochondrial disease v0.1370 WARS2 Zornitza Stark Mode of inheritance for gene: WARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1369 UQCC2 Zornitza Stark Marked gene: UQCC2 as ready
Mitochondrial disease v0.1369 UQCC2 Zornitza Stark Gene: uqcc2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1369 UQCC2 Zornitza Stark Phenotypes for gene: UQCC2 were changed from to Mitochondrial complex III deficiency, nuclear type 7 - MIM#615824
Mitochondrial disease v0.1368 UQCC2 Zornitza Stark Publications for gene: UQCC2 were set to
Mitochondrial disease v0.1367 UQCC2 Zornitza Stark Mode of inheritance for gene: UQCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1366 TTC19 Zornitza Stark Marked gene: TTC19 as ready
Mitochondrial disease v0.1366 TTC19 Zornitza Stark Gene: ttc19 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1366 TTC19 Zornitza Stark Phenotypes for gene: TTC19 were changed from to Mitochondrial complex III deficiency, nuclear type 2, MIM#615157
Mitochondrial disease v0.1365 TTC19 Zornitza Stark Publications for gene: TTC19 were set to
Mitochondrial disease v0.1364 TTC19 Zornitza Stark Mode of inheritance for gene: TTC19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1363 TSFM Zornitza Stark Marked gene: TSFM as ready
Mitochondrial disease v0.1363 TSFM Zornitza Stark Gene: tsfm has been classified as Green List (High Evidence).
Mitochondrial disease v0.1363 TSFM Zornitza Stark Phenotypes for gene: TSFM were changed from to Combined oxidative phosphorylation deficiency 3, MIM# 610505
Mitochondrial disease v0.1362 TSFM Zornitza Stark Publications for gene: TSFM were set to
Mitochondrial disease v0.1361 TSFM Zornitza Stark Mode of inheritance for gene: TSFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1360 TRNT1 Zornitza Stark Marked gene: TRNT1 as ready
Mitochondrial disease v0.1360 TRNT1 Zornitza Stark Gene: trnt1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1360 TRNT1 Zornitza Stark Phenotypes for gene: TRNT1 were changed from to Retinitis pigmentosa and erythrocytic microcytosis, MIM# 616959; Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, MIM# 616084
Mitochondrial disease v0.1359 TRNT1 Zornitza Stark Publications for gene: TRNT1 were set to 25193871; 23553769; 29170023; 27389523; 26494905
Mitochondrial disease v0.1359 TRNT1 Zornitza Stark Publications for gene: TRNT1 were set to
Mitochondrial disease v0.1358 TRNT1 Zornitza Stark Mode of inheritance for gene: TRNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1357 TRMU Zornitza Stark Marked gene: TRMU as ready
Mitochondrial disease v0.1357 TRMU Zornitza Stark Gene: trmu has been classified as Green List (High Evidence).
Mitochondrial disease v0.1357 TRMU Zornitza Stark Phenotypes for gene: TRMU were changed from to Liver failure, transient infantile, MIM# 613070
Mitochondrial disease v0.1356 TRMU Zornitza Stark Publications for gene: TRMU were set to 19732863
Mitochondrial disease v0.1355 TRMU Zornitza Stark Publications for gene: TRMU were set to
Mitochondrial disease v0.1354 TRMU Zornitza Stark Mode of inheritance for gene: TRMU was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1353 TRMU Zornitza Stark Mode of inheritance for gene: TRMU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1352 TRMT10C Zornitza Stark Marked gene: TRMT10C as ready
Mitochondrial disease v0.1352 TRMT10C Zornitza Stark Gene: trmt10c has been classified as Green List (High Evidence).
Mitochondrial disease v0.1352 TRMT10C Zornitza Stark Phenotypes for gene: TRMT10C were changed from Combined oxidative phosphorylation deficiency 30, MIM# 616974 to Combined oxidative phosphorylation deficiency 30, MIM# 616974
Mitochondrial disease v0.1351 TRMT10C Zornitza Stark Phenotypes for gene: TRMT10C were changed from to Combined oxidative phosphorylation deficiency 30, MIM# 616974
Mitochondrial disease v0.1350 TRMT10C Zornitza Stark Publications for gene: TRMT10C were set to 27132592; 33886802
Mitochondrial disease v0.1349 TRMT10C Zornitza Stark Publications for gene: TRMT10C were set to
Mitochondrial disease v0.1348 TRIT1 Zornitza Stark Marked gene: TRIT1 as ready
Mitochondrial disease v0.1348 TRIT1 Zornitza Stark Gene: trit1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1348 TPK1 Zornitza Stark Marked gene: TPK1 as ready
Mitochondrial disease v0.1348 TPK1 Zornitza Stark Gene: tpk1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1348 TPK1 Zornitza Stark Phenotypes for gene: TPK1 were changed from to Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), MIM# 614458
Mitochondrial disease v0.1347 TPK1 Zornitza Stark Publications for gene: TPK1 were set to
Mitochondrial disease v0.1346 TPK1 Zornitza Stark Mode of inheritance for gene: TPK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1345 TMEM70 Zornitza Stark Marked gene: TMEM70 as ready
Mitochondrial disease v0.1345 TMEM70 Zornitza Stark Gene: tmem70 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1345 TMEM70 Zornitza Stark Phenotypes for gene: TMEM70 were changed from to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MIM# 614052
Mitochondrial disease v0.1344 TMEM70 Zornitza Stark Publications for gene: TMEM70 were set to
Mitochondrial disease v0.1343 TMEM70 Zornitza Stark Mode of inheritance for gene: TMEM70 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1342 TIMM8A Zornitza Stark Marked gene: TIMM8A as ready
Mitochondrial disease v0.1342 TIMM8A Zornitza Stark Gene: timm8a has been classified as Green List (High Evidence).
Mitochondrial disease v0.1342 TIMM8A Zornitza Stark Phenotypes for gene: TIMM8A were changed from to Mohr-Tranebjaerg syndrome, MIM# 304700
Mitochondrial disease v0.1341 TIMM8A Zornitza Stark Publications for gene: TIMM8A were set to
Mitochondrial disease v0.1340 TIMM8A Zornitza Stark Mode of inheritance for gene: TIMM8A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disease v0.1339 TIMM8A Zornitza Stark changed review comment from: Progressive syndrome that includes deafness, visual disability leading to cortical blindness, dystonia, fractures, and intellectual impairment.; to: Progressive syndrome that includes deafness, visual disability leading to cortical blindness, dystonia, fractures, and intellectual impairment.

Component of the inner mitochondrial membrane.
Mitochondrial disease v0.1339 SURF1 Zornitza Stark Marked gene: SURF1 as ready
Mitochondrial disease v0.1339 SURF1 Zornitza Stark Gene: surf1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1339 SURF1 Zornitza Stark Phenotypes for gene: SURF1 were changed from to Charcot-Marie-Tooth disease, type 4K MIM#616684; Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110
Mitochondrial disease v0.1338 SURF1 Zornitza Stark Publications for gene: SURF1 were set to
Mitochondrial disease v0.1337 SURF1 Zornitza Stark Mode of inheritance for gene: SURF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1336 SUCLG1 Zornitza Stark Marked gene: SUCLG1 as ready
Mitochondrial disease v0.1336 SUCLG1 Zornitza Stark Gene: suclg1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1336 SUCLG1 Zornitza Stark Phenotypes for gene: SUCLG1 were changed from to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400
Mitochondrial disease v0.1335 SUCLG1 Zornitza Stark Publications for gene: SUCLG1 were set to
Mitochondrial disease v0.1334 SUCLG1 Zornitza Stark Mode of inheritance for gene: SUCLG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1333 SUCLA2 Zornitza Stark Marked gene: SUCLA2 as ready
Mitochondrial disease v0.1333 SUCLA2 Zornitza Stark Gene: sucla2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1333 SUCLA2 Zornitza Stark Phenotypes for gene: SUCLA2 were changed from to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791
Mitochondrial disease v0.1332 SUCLA2 Zornitza Stark Publications for gene: SUCLA2 were set to
Mitochondrial disease v0.1331 SUCLA2 Zornitza Stark Mode of inheritance for gene: SUCLA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1330 SLC25A19 Zornitza Stark Marked gene: SLC25A19 as ready
Mitochondrial disease v0.1330 SLC25A19 Zornitza Stark Gene: slc25a19 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1330 SLC25A19 Zornitza Stark Phenotypes for gene: SLC25A19 were changed from to Microcephaly, Amish type, MIM#607196; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710
Mitochondrial disease v0.1329 SLC25A19 Zornitza Stark Publications for gene: SLC25A19 were set to
Mitochondrial disease v0.1328 SLC25A19 Zornitza Stark Mode of inheritance for gene: SLC25A19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1327 SLC25A1 Zornitza Stark Marked gene: SLC25A1 as ready
Mitochondrial disease v0.1327 SLC25A1 Zornitza Stark Gene: slc25a1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1327 SLC25A1 Zornitza Stark Phenotypes for gene: SLC25A1 were changed from to Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072; Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596
Mitochondrial disease v0.1326 SLC25A1 Zornitza Stark Publications for gene: SLC25A1 were set to 26870663; 31527857; 31808147; 23561848; 23393310
Mitochondrial disease v0.1325 SLC25A1 Zornitza Stark Publications for gene: SLC25A1 were set to
Mitochondrial disease v0.1324 SLC25A1 Zornitza Stark Mode of inheritance for gene: SLC25A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1323 SLC25A1 Zornitza Stark reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disease v0.1323 SLC19A3 Zornitza Stark Marked gene: SLC19A3 as ready
Mitochondrial disease v0.1323 SLC19A3 Zornitza Stark Gene: slc19a3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1323 SLC19A3 Zornitza Stark Phenotypes for gene: SLC19A3 were changed from to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483
Mitochondrial disease v0.1322 SLC19A3 Zornitza Stark Publications for gene: SLC19A3 were set to
Mitochondrial disease v0.1321 SLC19A3 Zornitza Stark Mode of inheritance for gene: SLC19A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1320 SLC19A2 Zornitza Stark Marked gene: SLC19A2 as ready
Mitochondrial disease v0.1320 SLC19A2 Zornitza Stark Gene: slc19a2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1320 SLC19A2 Zornitza Stark Phenotypes for gene: SLC19A2 were changed from to Thiamine-responsive megaloblastic anaemia syndrome, MIM# 249270
Mitochondrial disease v0.1319 SLC19A2 Zornitza Stark Publications for gene: SLC19A2 were set to
Mitochondrial disease v0.1318 SLC19A2 Zornitza Stark Mode of inheritance for gene: SLC19A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1317 SFXN4 Zornitza Stark Marked gene: SFXN4 as ready
Mitochondrial disease v0.1317 SFXN4 Zornitza Stark Gene: sfxn4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1317 SFXN4 Zornitza Stark Phenotypes for gene: SFXN4 were changed from to Combined oxidative phosphorylation deficiency 18, MIM#615578
Mitochondrial disease v0.1316 SFXN4 Zornitza Stark Publications for gene: SFXN4 were set to
Mitochondrial disease v0.1315 SFXN4 Zornitza Stark Mode of inheritance for gene: SFXN4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1314 SFXN4 Zornitza Stark reviewed gene: SFXN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 24119684, 31059822; Phenotypes: Combined oxidative phosphorylation deficiency 18, MIM#615578; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1314 SERAC1 Zornitza Stark Marked gene: SERAC1 as ready
Mitochondrial disease v0.1314 SERAC1 Zornitza Stark Gene: serac1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1314 SERAC1 Zornitza Stark Phenotypes for gene: SERAC1 were changed from to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739
Mitochondrial disease v0.1313 SERAC1 Zornitza Stark Publications for gene: SERAC1 were set to
Mitochondrial disease v0.1312 SERAC1 Zornitza Stark Mode of inheritance for gene: SERAC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1311 SDHA Zornitza Stark Marked gene: SDHA as ready
Mitochondrial disease v0.1311 SDHA Zornitza Stark Gene: sdha has been classified as Green List (High Evidence).
Mitochondrial disease v0.1311 SDHA Zornitza Stark Phenotypes for gene: SDHA were changed from to Mitochondrial complex II deficiency, nuclear type 1, MIM# 252011; Cardiomyopathy, dilated, 1GG, MIM# 613642; Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259
Mitochondrial disease v0.1310 SDHA Zornitza Stark Publications for gene: SDHA were set to
Mitochondrial disease v0.1309 SDHA Zornitza Stark Mode of inheritance for gene: SDHA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.1308 SCO2 Zornitza Stark Marked gene: SCO2 as ready
Mitochondrial disease v0.1308 SCO2 Zornitza Stark Gene: sco2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1308 SCO2 Zornitza Stark Phenotypes for gene: SCO2 were changed from to Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377
Mitochondrial disease v0.1307 SCO2 Zornitza Stark Publications for gene: SCO2 were set to
Mitochondrial disease v0.1306 SCO2 Zornitza Stark Mode of inheritance for gene: SCO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1305 SCO2 Zornitza Stark reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 10545952, 11673586, 18924171, 20159436; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1305 SARS2 Zornitza Stark Marked gene: SARS2 as ready
Mitochondrial disease v0.1305 SARS2 Zornitza Stark Gene: sars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1305 SARS2 Zornitza Stark Phenotypes for gene: SARS2 were changed from to Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, MIM#613845
Mitochondrial disease v0.1304 SARS2 Zornitza Stark Publications for gene: SARS2 were set to
Mitochondrial disease v0.1303 SARS2 Zornitza Stark Mode of inheritance for gene: SARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1302 RTN4IP1 Zornitza Stark Marked gene: RTN4IP1 as ready
Mitochondrial disease v0.1302 RTN4IP1 Zornitza Stark Gene: rtn4ip1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1302 RTN4IP1 Zornitza Stark Phenotypes for gene: RTN4IP1 were changed from to Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732
Mitochondrial disease v0.1301 RTN4IP1 Zornitza Stark Publications for gene: RTN4IP1 were set to
Mitochondrial disease v0.1300 RTN4IP1 Zornitza Stark Mode of inheritance for gene: RTN4IP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1299 RTN4IP1 Zornitza Stark reviewed gene: RTN4IP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disease v0.1299 VPS13D Zornitza Stark Marked gene: VPS13D as ready
Mitochondrial disease v0.1299 VPS13D Zornitza Stark Gene: vps13d has been classified as Green List (High Evidence).
Mitochondrial disease v0.1299 Zornitza Stark Copied gene VPS13D from panel Mendeliome
Mitochondrial disease v0.1299 VPS13D Zornitza Stark gene: VPS13D was added
gene: VPS13D was added to Mitochondrial disease. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13D were set to 29604224; 29518281
Phenotypes for gene: VPS13D were set to Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317
Mitochondrial disease v0.1298 SUPV3L1 Zornitza Stark Marked gene: SUPV3L1 as ready
Mitochondrial disease v0.1298 SUPV3L1 Zornitza Stark Gene: supv3l1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1298 SUPV3L1 Zornitza Stark Classified gene: SUPV3L1 as Amber List (moderate evidence)
Mitochondrial disease v0.1298 SUPV3L1 Zornitza Stark Gene: supv3l1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1297 SUPV3L1 Zornitza Stark gene: SUPV3L1 was added
gene: SUPV3L1 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: SUPV3L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUPV3L1 were set to 39596606; 35023579
Phenotypes for gene: SUPV3L1 were set to Mitochondrial disease, MONDO:0044970
Review for gene: SUPV3L1 was set to AMBER
Added comment: PMID 35023579 reports two siblings from a consanguineous Omani family with a homozygous truncating SUPV3L1 variant (c.2215C>T, p.Gln739*). PMID 39596606 reports one individual with compound heterozygous splice (c.272-2A>G) and missense (c.1924A>C, p.Ser642Arg) SUPV3L1 variants. All three patients present with early‑onset neurodegenerative mitochondrial disease characterized by progressive spasticity/ataxia, optic atrophy, skin hypopigmentation, lactate elevation and neurodegeneration. Limited functional data.
Sources: Literature
Mitochondrial disease v0.1296 SUCLG2 Zornitza Stark Marked gene: SUCLG2 as ready
Mitochondrial disease v0.1296 SUCLG2 Zornitza Stark Gene: suclg2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.1296 SUCLG2 Zornitza Stark gene: SUCLG2 was added
gene: SUCLG2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: SUCLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SUCLG2 were set to 33484326
Phenotypes for gene: SUCLG2 were set to Mitochondrial disease, MONDO:0044970
Review for gene: SUCLG2 was set to RED
Added comment: PMID 33484326 reports 3 individuals from 3 unrelated families with a heterozygous nonsense c.235G>T (p.Glu79*) variant in SUCLG2 presenting with MELAS syndrome (mitochondrial encephalopathy, lactic acidosis, stroke-like episodes). No functional or segregation data are provided. Note 3 hets in gnomAD v4, hence RED rating.
Sources: Literature
Mitochondrial disease v0.1295 SMDT1 Zornitza Stark Marked gene: SMDT1 as ready
Mitochondrial disease v0.1295 SMDT1 Zornitza Stark Gene: smdt1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1295 SMDT1 Zornitza Stark Classified gene: SMDT1 as Amber List (moderate evidence)
Mitochondrial disease v0.1295 SMDT1 Zornitza Stark Gene: smdt1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1294 SMDT1 Zornitza Stark gene: SMDT1 was added
gene: SMDT1 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: SMDT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SMDT1 were set to 37454773
Phenotypes for gene: SMDT1 were set to Mitochondrial disease, MONDO:0044970, SMDT1-related
Review for gene: SMDT1 was set to AMBER
Added comment: PMID 37454773 reports 2 individuals from 2 unrelated families with homozygous SMDT1 variants (c.142_145del frameshift; c.179C>T missense) presenting with muscle disease characterized by elevated CK, episodic rhabdomyolysis, progressive limb‑girdle weakness and mild developmental delay. Patient fibroblasts lack EMRE, show disrupted MCU complex and severely impaired mitochondrial Ca2+ uptake; wild‑type SMDT1 complementation restores EMRE expression, MCU assembly and Ca2+ uptake.
Sources: Literature
Mitochondrial disease v0.1293 PREPL Zornitza Stark Marked gene: PREPL as ready
Mitochondrial disease v0.1293 PREPL Zornitza Stark Gene: prepl has been classified as Green List (High Evidence).
Mitochondrial disease v0.1293 PREPL Zornitza Stark Phenotypes for gene: PREPL were changed from Myasthenic syndrome, congenital, 22 MIM#616224; hypotonia-cystinuria syndrome; Disorders of amino acid transport to Myasthenic syndrome, congenital, 22 MIM#616224; hypotonia-cystinuria syndrome
Mitochondrial disease v0.1292 PREPL Zornitza Stark Publications for gene: PREPL were set to 28726805; 27604308; 24610330
Mitochondrial disease v0.1291 PREPL Zornitza Stark reviewed gene: PREPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 34888501; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1291 Zornitza Stark Copied gene PREPL from panel Mendeliome
Mitochondrial disease v0.1291 PREPL Zornitza Stark gene: PREPL was added
gene: PREPL was added to Mitochondrial disease. Sources: Expert Review Green,Literature,Victorian Clinical Genetics Services
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PREPL were set to 28726805; 27604308; 24610330
Phenotypes for gene: PREPL were set to Myasthenic syndrome, congenital, 22 MIM#616224; hypotonia-cystinuria syndrome; Disorders of amino acid transport
Mitochondrial disease v0.1290 PISD Zornitza Stark Marked gene: PISD as ready
Mitochondrial disease v0.1290 PISD Zornitza Stark Gene: pisd has been classified as Green List (High Evidence).
Mitochondrial disease v0.1290 PISD Zornitza Stark Publications for gene: PISD were set to 31263216; 30858161
Mitochondrial disease v0.1289 PISD Zornitza Stark commented on gene: PISD: Mitochondrial enzyme.
Mitochondrial disease v0.1289 Zornitza Stark Copied gene PISD from panel Mendeliome
Mitochondrial disease v0.1289 PISD Zornitza Stark gene: PISD was added
gene: PISD was added to Mitochondrial disease. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PISD were set to 31263216; 30858161
Phenotypes for gene: PISD were set to Liberfarb syndrome, MIM# 618889; Intellectual disability; cataracts; retinal degeneration; microcephaly; deafness; short stature; white matter abnormalities
Mitochondrial disease v0.1288 PCK2 Zornitza Stark Marked gene: PCK2 as ready
Mitochondrial disease v0.1288 PCK2 Zornitza Stark Gene: pck2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1288 Zornitza Stark Copied gene PCK2 from panel Hereditary Neuropathy_CMT - isolated
Mitochondrial disease v0.1288 PCK2 Zornitza Stark gene: PCK2 was added
gene: PCK2 was added to Mitochondrial disease. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: PCK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCK2 were set to 36845668
Phenotypes for gene: PCK2 were set to Peripheral neuropathy (MONDO#0005244), PCK2-related
Mitochondrial disease v0.1287 NDUFA3 Zornitza Stark Marked gene: NDUFA3 as ready
Mitochondrial disease v0.1287 NDUFA3 Zornitza Stark Gene: ndufa3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1287 NDUFA3 Zornitza Stark Classified gene: NDUFA3 as Amber List (moderate evidence)
Mitochondrial disease v0.1287 NDUFA3 Zornitza Stark Gene: ndufa3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1286 NDUFA3 Zornitza Stark gene: NDUFA3 was added
gene: NDUFA3 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: NDUFA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA3 were set to 41038977; 39661167
Phenotypes for gene: NDUFA3 were set to Mitochondrial disease, MONDO:0044970,NDUFA3-related
Review for gene: NDUFA3 was set to AMBER
Added comment: PMID 39661167 reports three affected siblings from one unrelated family and PMID 41038977 reports one affected individual from a second unrelated family, both with early‑onset Leigh syndrome due to biallelic loss‑of‑function NDUFA3 variants. Functional studies demonstrate loss of complex I activity and rescue experiments supporting pathogenicity.
Sources: Literature
Mitochondrial disease v0.1285 MTX2 Zornitza Stark Marked gene: MTX2 as ready
Mitochondrial disease v0.1285 MTX2 Zornitza Stark Gene: mtx2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1285 MTX2 Zornitza Stark Classified gene: MTX2 as Green List (high evidence)
Mitochondrial disease v0.1285 MTX2 Zornitza Stark Gene: mtx2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1284 MTX2 Zornitza Stark gene: MTX2 was added
gene: MTX2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTX2 were set to 38250156; 32917887
Phenotypes for gene: MTX2 were set to Mandibuloacral dysplasia progeroid syndrome, MIM# 619127
Review for gene: MTX2 was set to GREEN
Added comment: PMID 32917887 reports 7 individuals from 5 unrelated families with autosomal recessive loss‑of‑function MTX2 variants presenting with mandibuloacral dysplasia progeroid syndrome (growth retardation, mandibular hypoplasia, acro‑osteolysis, lipodystrophy, severe hypertension, renal disease). PMID 38250156 reports 2 individuals from 2 unrelated families with autosomal recessive loss‑of‑function MTX2 variants presenting with nephrotic proteinuria, multisystem mitochondrial dysfunction (elevated lactate, growth retardation, cardiomyopathy). Loss of MTX2 in patients' primary fibroblasts led to loss of Metaxin-1 (MTX1) and mitochondrial dysfunction, including network fragmentation and oxidative phosphorylation impairment.
Sources: Literature
Mitochondrial disease v0.1283 C19orf70 Zornitza Stark Tag new gene name tag was added to gene: C19orf70.
Mitochondrial disease v0.1283 IDH3G Zornitza Stark Marked gene: IDH3G as ready
Mitochondrial disease v0.1283 IDH3G Zornitza Stark Gene: idh3g has been classified as Green List (High Evidence).
Mitochondrial disease v0.1283 IDH3G Zornitza Stark commented on gene: IDH3G: Mitochondrial enzyme.
Mitochondrial disease v0.1283 Zornitza Stark Copied gene IDH3G from panel Retinitis pigmentosa
Mitochondrial disease v0.1283 IDH3G Zornitza Stark gene: IDH3G was added
gene: IDH3G was added to Mitochondrial disease. Sources: Expert Review Green,Literature
Mode of inheritance for gene: IDH3G was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: IDH3G were set to 40119724
Phenotypes for gene: IDH3G were set to Retinitis pigmentosa 99, MIM# 301148
Mitochondrial disease v0.1282 HK1 Zornitza Stark Marked gene: HK1 as ready
Mitochondrial disease v0.1282 HK1 Zornitza Stark Gene: hk1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1282 HK1 Zornitza Stark Classified gene: HK1 as Green List (high evidence)
Mitochondrial disease v0.1282 HK1 Zornitza Stark Gene: hk1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1282 HK1 Zornitza Stark Classified gene: HK1 as Green List (high evidence)
Mitochondrial disease v0.1282 HK1 Zornitza Stark Gene: hk1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1281 HK1 Zornitza Stark gene: HK1 was added
gene: HK1 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: HK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HK1 were set to 40469904; 38617198
Phenotypes for gene: HK1 were set to Neurodevelopmental disorder with visual defects and brain anomalies, MIM# 618547
Review for gene: HK1 was set to GREEN
Added comment: PMID 38617198 reports 15 individuals from 14 unrelated families with heterozygous de novo missense HK1 variants causing a neurodevelopmental disorder with early‑onset developmental and epileptic encephalopathy, static encephalopathy, movement disorder, retinitis pigmentosa, low CSF glucose and elevated lactate, consistent with mitochondrial dysfunction. PMID 40469904 reports 22 individuals from 19 unrelated families with heterozygous missense HK1 variants causing neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA), featuring intellectual disability, hypotonia, epileptic encephalopathy, visual impairment, Leigh‑like MRI changes and elevated lactate.
Sources: Literature
Mitochondrial disease v0.1280 GPT2 Zornitza Stark Marked gene: GPT2 as ready
Mitochondrial disease v0.1280 GPT2 Zornitza Stark Gene: gpt2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1280 GPT2 Zornitza Stark commented on gene: GPT2: Mitochondrial enzyme.
Mitochondrial disease v0.1280 Zornitza Stark Copied gene GPT2 from panel Mendeliome
Mitochondrial disease v0.1280 GPT2 Zornitza Stark gene: GPT2 was added
gene: GPT2 was added to Mitochondrial disease. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPT2 were set to 27601654; 25758935
Phenotypes for gene: GPT2 were set to Neurodevelopmental disorder with microcephaly and spastic paraplegia, MIM# 616281
Mitochondrial disease v0.1279 DNAJA3 Zornitza Stark Classified gene: DNAJA3 as Amber List (moderate evidence)
Mitochondrial disease v0.1279 DNAJA3 Zornitza Stark Gene: dnaja3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1279 DNAJA3 Zornitza Stark Marked gene: DNAJA3 as ready
Mitochondrial disease v0.1279 DNAJA3 Zornitza Stark Gene: dnaja3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1279 DNAJA3 Zornitza Stark Classified gene: DNAJA3 as Amber List (moderate evidence)
Mitochondrial disease v0.1279 DNAJA3 Zornitza Stark Gene: dnaja3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1278 DNAJA3 Zornitza Stark gene: DNAJA3 was added
gene: DNAJA3 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: DNAJA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJA3 were set to 34750646; 30770860
Phenotypes for gene: DNAJA3 were set to Mitochondrial disease, MONDO:0044970, DNAJA3-related
Review for gene: DNAJA3 was set to AMBER
Added comment: PMID 30770860 reports 1 individual from a consanguineous family with a homozygous missense variant c.452G>C (p.Arg151Thr) causing developmental delay, intellectual disability, basal‑ganglia abnormalities and peripheral polyneuropathy; PMID 34750646 reports 1 individual from a second unrelated consanguineous family with a homozygous missense c.1282G>A causing childhood‑onset neuroregressive mitochondrial disease with seizures, optic atrophy and basal‑ganglia lesions. Limited functional data.
Sources: Literature
Mitochondrial disease v0.1277 NDUFA4 Zornitza Stark Phenotypes for gene: NDUFA4 were changed from Leigh syndrome; Complex IV deficiency to Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065; Leigh syndrome
Mitochondrial disease v0.1276 NDUFA4 Zornitza Stark commented on gene: NDUFA4: New HGNC approved name is COXFA4
Mitochondrial disease v0.1276 NDUFA4 Zornitza Stark Tag new gene name tag was added to gene: NDUFA4.
Mitochondrial disease v0.1276 ATP5G3 Zornitza Stark Marked gene: ATP5G3 as ready
Mitochondrial disease v0.1276 ATP5G3 Zornitza Stark Gene: atp5g3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1276 Zornitza Stark Copied gene ATP5G3 from panel Mendeliome
Mitochondrial disease v0.1276 ATP5G3 Zornitza Stark gene: ATP5G3 was added
gene: ATP5G3 was added to Mitochondrial disease. Sources: Expert Review Green,Literature
new gene name tags were added to gene: ATP5G3.
Mode of inheritance for gene: ATP5G3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP5G3 were set to 34636445; 34954817
Phenotypes for gene: ATP5G3 were set to Dystonia, early-onset, and/or spastic paraplegia, MIM#619681
Mitochondrial disease v0.1275 MT-TC Zornitza Stark changed review comment from: LIMITED by ClinGen.

There were 3 scoreable probands across >10 publications from 1996-2022. Notably, while cybrid analyses were performed (PMID:36039763), one of the variants, m.5783G>A, was excluded from scoring for three reasons: 1.) the reported phenotype of isolated hearing loss was non-specific and incompletely penetrant, but also 2.) the biochemical impact in cybrids was mild - moderate, and 3.) there was reduction in expression of mitochondrial replication genes (TWNK ~30% of control in cybrids) suggesting an alternative aetiology might be responsible for the biochemical impact reported.

The gene-disease association for MT-TC is also supported by the known interaction with a multitude of other mitochondrial translation proteins (PMID:30030363) and respiratory chain studies and Northern blot analysis supporting MT-TC dysfunction leading to Complex I deficiency (PMID:35252560).; to: LIMITED by ClinGen.

There were 3 scoreable probands across >10 publications from 1996-2022. Notably, while cybrid analyses were performed (PMID:36039763), one of the variants, m.5783G>A, was excluded from scoring for three reasons: 1.) the reported phenotype of isolated hearing loss was non-specific and incompletely penetrant, but also 2.) the biochemical impact in cybrids was mild - moderate, and 3.) there was reduction in expression of mitochondrial replication genes (TWNK ~30% of control in cybrids) suggesting an alternative aetiology might be responsible for the biochemical impact reported.

Reported phenotypes are variable but include dystonia, neuropathy, myoclonic epilepsy, ataxia, retinitis pigmentosa, and muscle weakness.

The gene-disease association for MT-TC is also supported by the known interaction with a multitude of other mitochondrial translation proteins (PMID:30030363) and respiratory chain studies and Northern blot analysis supporting MT-TC dysfunction leading to Complex I deficiency (PMID:35252560).
Mitochondrial disease v0.1275 MT-RNR2 Zornitza Stark Phenotypes for gene: MT-RNR2 were changed from to mitochondrial disease MONDO:0044970, MT-RNR2-related
Mitochondrial disease v0.1274 MT-RNR2 Zornitza Stark Publications for gene: MT-RNR2 were set to 29233888
Mitochondrial disease v0.1273 MT-RNR2 Zornitza Stark reviewed gene: MT-RNR2: Rating: RED; Mode of pathogenicity: None; Publications: 17761147, 24367055; Phenotypes: mitochondrial disease MONDO:0044970, MT-RNR2-related; Mode of inheritance: MITOCHONDRIAL
Mitochondrial disease v0.1273 RRM2B Zornitza Stark Marked gene: RRM2B as ready
Mitochondrial disease v0.1273 RRM2B Zornitza Stark Gene: rrm2b has been classified as Green List (High Evidence).
Mitochondrial disease v0.1273 RRM2B Zornitza Stark Phenotypes for gene: RRM2B were changed from to Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075
Mitochondrial disease v0.1272 RRM2B Zornitza Stark Publications for gene: RRM2B were set to
Mitochondrial disease v0.1271 RRM2B Zornitza Stark Mode of inheritance for gene: RRM2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1270 RARS2 Zornitza Stark Marked gene: RARS2 as ready
Mitochondrial disease v0.1270 RARS2 Zornitza Stark Gene: rars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1270 RARS2 Zornitza Stark Phenotypes for gene: RARS2 were changed from to Pontocerebellar hypoplasia, type 6, MIM# 611523
Mitochondrial disease v0.1269 RARS2 Zornitza Stark Publications for gene: RARS2 were set to
Mitochondrial disease v0.1268 RARS2 Zornitza Stark Mode of inheritance for gene: RARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1267 PPA2 Zornitza Stark Marked gene: PPA2 as ready
Mitochondrial disease v0.1267 PPA2 Zornitza Stark Gene: ppa2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1267 PPA2 Zornitza Stark Phenotypes for gene: PPA2 were changed from to Sudden cardiac failure, alcohol-induced, 617223; Sudden cardiac failure, infantile, 617222
Mitochondrial disease v0.1266 PPA2 Zornitza Stark Publications for gene: PPA2 were set to
Mitochondrial disease v0.1265 PPA2 Zornitza Stark Mode of inheritance for gene: PPA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1264 POLG Zornitza Stark Marked gene: POLG as ready
Mitochondrial disease v0.1264 POLG Zornitza Stark Gene: polg has been classified as Green List (High Evidence).
Mitochondrial disease v0.1264 POLG Zornitza Stark Phenotypes for gene: POLG were changed from to Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459; Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450
Mitochondrial disease v0.1263 POLG Zornitza Stark Publications for gene: POLG were set to
Mitochondrial disease v0.1262 POLG Zornitza Stark Mode of inheritance for gene: POLG was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.1261 PMPCB Zornitza Stark Marked gene: PMPCB as ready
Mitochondrial disease v0.1261 PMPCB Zornitza Stark Gene: pmpcb has been classified as Green List (High Evidence).
Mitochondrial disease v0.1261 PMPCB Zornitza Stark Phenotypes for gene: PMPCB were changed from to Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954
Mitochondrial disease v0.1260 PMPCB Zornitza Stark Publications for gene: PMPCB were set to
Mitochondrial disease v0.1259 PMPCB Zornitza Stark Mode of inheritance for gene: PMPCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1258 PDSS2 Zornitza Stark Marked gene: PDSS2 as ready
Mitochondrial disease v0.1258 PDSS2 Zornitza Stark Gene: pdss2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1258 PDSS2 Zornitza Stark Phenotypes for gene: PDSS2 were changed from to Coenzyme Q10 deficiency, primary, 3 MIM#614652
Mitochondrial disease v0.1257 PDSS2 Zornitza Stark Publications for gene: PDSS2 were set to
Mitochondrial disease v0.1256 PDSS2 Zornitza Stark Mode of inheritance for gene: PDSS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1255 PDP1 Zornitza Stark Marked gene: PDP1 as ready
Mitochondrial disease v0.1255 PDP1 Zornitza Stark Gene: pdp1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1255 PDP1 Zornitza Stark Phenotypes for gene: PDP1 were changed from to Pyruvate dehydrogenase phosphatase deficiency - MIM#608782
Mitochondrial disease v0.1254 PDP1 Zornitza Stark Publications for gene: PDP1 were set to
Mitochondrial disease v0.1253 PDP1 Zornitza Stark Mode of inheritance for gene: PDP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1252 PDHX Zornitza Stark Marked gene: PDHX as ready
Mitochondrial disease v0.1252 PDHX Zornitza Stark Gene: pdhx has been classified as Green List (High Evidence).
Mitochondrial disease v0.1252 PDHX Zornitza Stark Phenotypes for gene: PDHX were changed from Lacticacidaemia due to PDX1 deficiency MIM#245349 to Lactic acidaemia due to PDX1 deficiency MIM#245349
Mitochondrial disease v0.1251 PDHX Zornitza Stark Phenotypes for gene: PDHX were changed from to Lacticacidaemia due to PDX1 deficiency MIM#245349
Mitochondrial disease v0.1250 PDHX Zornitza Stark Publications for gene: PDHX were set to
Mitochondrial disease v0.1249 PDHX Zornitza Stark Mode of inheritance for gene: PDHX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1248 PDHB Zornitza Stark Marked gene: PDHB as ready
Mitochondrial disease v0.1248 PDHB Zornitza Stark Gene: pdhb has been classified as Green List (High Evidence).
Mitochondrial disease v0.1248 PDHB Zornitza Stark Phenotypes for gene: PDHB were changed from to Pyruvate dehydrogenase E1-beta deficiency - MIM#614111
Mitochondrial disease v0.1247 PDHB Zornitza Stark Mode of inheritance for gene: PDHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1246 OPA1 Zornitza Stark reviewed gene: OPA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: OPA1-related optic atrophy with or without extraocular features, MONDO:0800181; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial disease v0.1246 OPA1 Zornitza Stark Marked gene: OPA1 as ready
Mitochondrial disease v0.1246 OPA1 Zornitza Stark Gene: opa1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1246 OPA1 Zornitza Stark Phenotypes for gene: OPA1 were changed from to OPA1-related optic atrophy with or without extraocular features, MONDO:0800181
Mitochondrial disease v0.1245 OPA1 Zornitza Stark Publications for gene: OPA1 were set to
Mitochondrial disease v0.1244 OPA1 Zornitza Stark Mode of inheritance for gene: OPA1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial disease v0.1243 NDUFV1 Zornitza Stark Marked gene: NDUFV1 as ready
Mitochondrial disease v0.1243 NDUFV1 Zornitza Stark Gene: ndufv1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1243 NDUFV1 Zornitza Stark Phenotypes for gene: NDUFV1 were changed from to Mitochondrial complex I deficiency, nuclear type 4 MIM#618225
Mitochondrial disease v0.1242 NDUFV1 Zornitza Stark Publications for gene: NDUFV1 were set to
Mitochondrial disease v0.1241 NDUFV1 Zornitza Stark Mode of inheritance for gene: NDUFV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1240 NDUFS8 Zornitza Stark Marked gene: NDUFS8 as ready
Mitochondrial disease v0.1240 NDUFS8 Zornitza Stark Gene: ndufs8 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1240 NDUFS8 Zornitza Stark Phenotypes for gene: NDUFS8 were changed from to Mitochondrial complex I deficiency, nuclear type 2 MIM#618222
Mitochondrial disease v0.1239 NDUFS8 Zornitza Stark Publications for gene: NDUFS8 were set to
Mitochondrial disease v0.1238 NDUFS8 Zornitza Stark Mode of inheritance for gene: NDUFS8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1237 NDUFS7 Zornitza Stark Marked gene: NDUFS7 as ready
Mitochondrial disease v0.1237 NDUFS7 Zornitza Stark Gene: ndufs7 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1237 NDUFS7 Zornitza Stark Phenotypes for gene: NDUFS7 were changed from to Mitochondrial complex I deficiency, nuclear type 3 (MIM# 618224)
Mitochondrial disease v0.1236 NDUFS7 Zornitza Stark Publications for gene: NDUFS7 were set to
Mitochondrial disease v0.1235 NDUFS7 Zornitza Stark Mode of inheritance for gene: NDUFS7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1234 NDUFAF5 Zornitza Stark Marked gene: NDUFAF5 as ready
Mitochondrial disease v0.1234 NDUFAF5 Zornitza Stark Gene: ndufaf5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1234 NDUFAF5 Zornitza Stark Phenotypes for gene: NDUFAF5 were changed from to Mitochondrial complex I deficiency, nuclear type 3 MIM#618224
Mitochondrial disease v0.1233 NDUFAF5 Zornitza Stark Publications for gene: NDUFAF5 were set to
Mitochondrial disease v0.1232 NDUFAF5 Zornitza Stark Mode of inheritance for gene: NDUFAF5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1231 NDUFA1 Zornitza Stark Marked gene: NDUFA1 as ready
Mitochondrial disease v0.1231 NDUFA1 Zornitza Stark Gene: ndufa1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1231 NDUFA1 Zornitza Stark Phenotypes for gene: NDUFA1 were changed from to Mitochondrial complex I deficiency, nuclear type 12 MIM#301020
Mitochondrial disease v0.1230 NDUFA1 Zornitza Stark Publications for gene: NDUFA1 were set to
Mitochondrial disease v0.1229 NDUFA1 Zornitza Stark Mode of inheritance for gene: NDUFA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disease v0.1228 MPV17 Zornitza Stark Marked gene: MPV17 as ready
Mitochondrial disease v0.1228 MPV17 Zornitza Stark Gene: mpv17 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1228 MPV17 Zornitza Stark Phenotypes for gene: MPV17 were changed from to Charcot-Marie-Tooth disease, axonal, type 2EE, MIM# 618400
Mitochondrial disease v0.1227 MPV17 Zornitza Stark Publications for gene: MPV17 were set to
Mitochondrial disease v0.1226 MPV17 Zornitza Stark Mode of inheritance for gene: MPV17 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1225 MFN2 Zornitza Stark Marked gene: MFN2 as ready
Mitochondrial disease v0.1225 MFN2 Zornitza Stark Gene: mfn2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1225 MFN2 Zornitza Stark Phenotypes for gene: MFN2 were changed from to Charcot-Marie-Tooth disease, axonal, type 2A2A 609260; Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087; Hereditary motor and sensory neuropathy VIA, MIM# 601152
Mitochondrial disease v0.1224 MFN2 Zornitza Stark Publications for gene: MFN2 were set to
Mitochondrial disease v0.1223 MFN2 Zornitza Stark Mode of inheritance for gene: MFN2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.1222 TAZ Zornitza Stark Marked gene: TAZ as ready
Mitochondrial disease v0.1222 TAZ Zornitza Stark Gene: taz has been classified as Green List (High Evidence).
Mitochondrial disease v0.1222 TAZ Zornitza Stark Phenotypes for gene: TAZ were changed from to Barth syndrome, MIM# 302060
Mitochondrial disease v0.1221 TAZ Zornitza Stark Mode of inheritance for gene: TAZ was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disease v0.1220 MFF Zornitza Stark Marked gene: MFF as ready
Mitochondrial disease v0.1220 MFF Zornitza Stark Gene: mff has been classified as Green List (High Evidence).
Mitochondrial disease v0.1220 MFF Zornitza Stark Phenotypes for gene: MFF were changed from to Encephalopathy due to defective mitochondrial and peroxisomal fission 2, MIM# 617086
Mitochondrial disease v0.1219 MFF Zornitza Stark Publications for gene: MFF were set to
Mitochondrial disease v0.1218 MFF Zornitza Stark Mode of inheritance for gene: MFF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1217 MDH2 Zornitza Stark Marked gene: MDH2 as ready
Mitochondrial disease v0.1217 MDH2 Zornitza Stark Gene: mdh2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1217 MDH2 Zornitza Stark Phenotypes for gene: MDH2 were changed from to Developmental and epileptic encephalopathy 51 MIM#617339
Mitochondrial disease v0.1216 MDH2 Zornitza Stark Publications for gene: MDH2 were set to
Mitochondrial disease v0.1215 MDH2 Zornitza Stark Mode of inheritance for gene: MDH2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1214 LYRM7 Zornitza Stark Marked gene: LYRM7 as ready
Mitochondrial disease v0.1214 LYRM7 Zornitza Stark Gene: lyrm7 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1214 LYRM7 Zornitza Stark Phenotypes for gene: LYRM7 were changed from to Mitochondrial complex III deficiency, nuclear type 8 - MIM#615838
Mitochondrial disease v0.1213 LYRM7 Zornitza Stark Mode of inheritance for gene: LYRM7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1212 LRPPRC Zornitza Stark Marked gene: LRPPRC as ready
Mitochondrial disease v0.1212 LRPPRC Zornitza Stark Gene: lrpprc has been classified as Green List (High Evidence).
Mitochondrial disease v0.1212 LRPPRC Zornitza Stark Phenotypes for gene: LRPPRC were changed from to Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111
Mitochondrial disease v0.1211 LRPPRC Zornitza Stark Publications for gene: LRPPRC were set to
Mitochondrial disease v0.1210 LRPPRC Zornitza Stark Mode of inheritance for gene: LRPPRC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1209 LIPT2 Zornitza Stark Marked gene: LIPT2 as ready
Mitochondrial disease v0.1209 LIPT2 Zornitza Stark Gene: lipt2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1209 LIPT2 Zornitza Stark Phenotypes for gene: LIPT2 were changed from to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM# 617668
Mitochondrial disease v0.1208 LIPT2 Zornitza Stark Publications for gene: LIPT2 were set to
Mitochondrial disease v0.1207 LIPT2 Zornitza Stark Mode of inheritance for gene: LIPT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1206 LIAS Zornitza Stark Marked gene: LIAS as ready
Mitochondrial disease v0.1206 LIAS Zornitza Stark Gene: lias has been classified as Green List (High Evidence).
Mitochondrial disease v0.1206 LIAS Zornitza Stark Phenotypes for gene: LIAS were changed from to Hyperglycinaemia, lactic acidosis, and seizures, MIM# 614462
Mitochondrial disease v0.1205 LIAS Zornitza Stark Publications for gene: LIAS were set to
Mitochondrial disease v0.1204 LIAS Zornitza Stark Mode of inheritance for gene: LIAS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1203 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Mitochondrial disease v0.1203 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1203 LARS2 Zornitza Stark Phenotypes for gene: LARS2 were changed from to Perrault syndrome 4; Hydrops, lactic acidosis, and sideroblastic anaemia, MIM# 617021; Leukodystrophy
Mitochondrial disease v0.1202 LARS2 Zornitza Stark Publications for gene: LARS2 were set to
Mitochondrial disease v0.1201 LARS2 Zornitza Stark Mode of inheritance for gene: LARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1200 ISCU Zornitza Stark Marked gene: ISCU as ready
Mitochondrial disease v0.1200 ISCU Zornitza Stark Gene: iscu has been classified as Green List (High Evidence).
Mitochondrial disease v0.1200 ISCU Zornitza Stark Phenotypes for gene: ISCU were changed from to Myopathy with lactic acidosis, hereditary, MIM# 255125
Mitochondrial disease v0.1199 ISCU Zornitza Stark Publications for gene: ISCU were set to
Mitochondrial disease v0.1198 ISCU Zornitza Stark Mode of inheritance for gene: ISCU was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.1197 IARS2 Zornitza Stark Marked gene: IARS2 as ready
Mitochondrial disease v0.1197 IARS2 Zornitza Stark Gene: iars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1197 IARS2 Zornitza Stark Phenotypes for gene: IARS2 were changed from to Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM# 616007
Mitochondrial disease v0.1196 IARS2 Zornitza Stark Publications for gene: IARS2 were set to
Mitochondrial disease v0.1195 IARS2 Zornitza Stark Mode of inheritance for gene: IARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1194 HSD17B10 Zornitza Stark Marked gene: HSD17B10 as ready
Mitochondrial disease v0.1194 HSD17B10 Zornitza Stark Gene: hsd17b10 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1194 HSD17B10 Zornitza Stark Phenotypes for gene: HSD17B10 were changed from to HSD10 mitochondrial disease, MIM# 300438
Mitochondrial disease v0.1193 HSD17B10 Zornitza Stark Mode of inheritance for gene: HSD17B10 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disease v0.1192 HSPD1 Zornitza Stark Marked gene: HSPD1 as ready
Mitochondrial disease v0.1192 HSPD1 Zornitza Stark Gene: hspd1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1192 HSPD1 Zornitza Stark Phenotypes for gene: HSPD1 were changed from to Leukodystrophy, hypomyelinating, 4, MIM# 612233; Spastic paraplegia 13, autosomal dominant, MIM# 605280
Mitochondrial disease v0.1191 HSPD1 Zornitza Stark Publications for gene: HSPD1 were set to
Mitochondrial disease v0.1190 HSPD1 Zornitza Stark Mode of inheritance for gene: HSPD1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.1189 HIBCH Zornitza Stark Marked gene: HIBCH as ready
Mitochondrial disease v0.1189 HIBCH Zornitza Stark Gene: hibch has been classified as Green List (High Evidence).
Mitochondrial disease v0.1189 HIBCH Zornitza Stark Phenotypes for gene: HIBCH were changed from to 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620
Mitochondrial disease v0.1188 HIBCH Zornitza Stark Publications for gene: HIBCH were set to 26026795; 25251209; 24299452; 32677093
Mitochondrial disease v0.1187 HIBCH Zornitza Stark Publications for gene: HIBCH were set to
Mitochondrial disease v0.1186 HIBCH Zornitza Stark Mode of inheritance for gene: HIBCH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1185 HCCS Zornitza Stark Marked gene: HCCS as ready
Mitochondrial disease v0.1185 HCCS Zornitza Stark Gene: hccs has been classified as Green List (High Evidence).
Mitochondrial disease v0.1185 HCCS Zornitza Stark Phenotypes for gene: HCCS were changed from to Linear skin defects with multiple congenital anomalies 1, MIM# 309801
Mitochondrial disease v0.1184 HCCS Zornitza Stark Publications for gene: HCCS were set to
Mitochondrial disease v0.1183 HCCS Zornitza Stark Mode of inheritance for gene: HCCS was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disease v0.1182 GLRX5 Zornitza Stark Marked gene: GLRX5 as ready
Mitochondrial disease v0.1182 GLRX5 Zornitza Stark Gene: glrx5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1182 GLRX5 Zornitza Stark Phenotypes for gene: GLRX5 were changed from to Anaemia, sideroblastic, 3, pyridoxine-refractory, MIM# 616860
Mitochondrial disease v0.1181 GLRX5 Zornitza Stark Mode of inheritance for gene: GLRX5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1180 GFM1 Zornitza Stark Marked gene: GFM1 as ready
Mitochondrial disease v0.1180 GFM1 Zornitza Stark Gene: gfm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1180 GFM1 Zornitza Stark Phenotypes for gene: GFM1 were changed from to Combined oxidative phosphorylation deficiency 1 MIM#609060
Mitochondrial disease v0.1179 GFM1 Zornitza Stark Publications for gene: GFM1 were set to
Mitochondrial disease v0.1178 GFM1 Zornitza Stark Mode of inheritance for gene: GFM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1177 FLAD1 Zornitza Stark Marked gene: FLAD1 as ready
Mitochondrial disease v0.1177 FLAD1 Zornitza Stark Gene: flad1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1177 FLAD1 Zornitza Stark Phenotypes for gene: FLAD1 were changed from to Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency MIM#255100
Mitochondrial disease v0.1176 FLAD1 Zornitza Stark Publications for gene: FLAD1 were set to
Mitochondrial disease v0.1175 FLAD1 Zornitza Stark Mode of inheritance for gene: FLAD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1174 ETHE1 Zornitza Stark Marked gene: ETHE1 as ready
Mitochondrial disease v0.1174 ETHE1 Zornitza Stark Gene: ethe1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1174 ETHE1 Zornitza Stark Phenotypes for gene: ETHE1 were changed from to Ethylmalonic encephalopathy , MIM#602473
Mitochondrial disease v0.1173 ETHE1 Zornitza Stark Publications for gene: ETHE1 were set to
Mitochondrial disease v0.1172 ETHE1 Zornitza Stark Mode of inheritance for gene: ETHE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1171 DNM1L Zornitza Stark Marked gene: DNM1L as ready
Mitochondrial disease v0.1171 DNM1L Zornitza Stark Gene: dnm1l has been classified as Green List (High Evidence).
Mitochondrial disease v0.1171 DNAJC19 Zornitza Stark Marked gene: DNAJC19 as ready
Mitochondrial disease v0.1171 DNAJC19 Zornitza Stark Gene: dnajc19 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1171 DNAJC19 Zornitza Stark Phenotypes for gene: DNAJC19 were changed from to 3-methylglutaconic aciduria, type V MIM#610198
Mitochondrial disease v0.1170 DNAJC19 Zornitza Stark Publications for gene: DNAJC19 were set to
Mitochondrial disease v0.1169 DNAJC19 Zornitza Stark Mode of inheritance for gene: DNAJC19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1168 DNA2 Zornitza Stark Marked gene: DNA2 as ready
Mitochondrial disease v0.1168 DNA2 Zornitza Stark Gene: dna2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1168 DNA2 Zornitza Stark Phenotypes for gene: DNA2 were changed from to Seckel syndrome 8, MIM#615807; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6 MIM#615156
Mitochondrial disease v0.1167 DNA2 Zornitza Stark Mode of inheritance for gene: DNA2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.1166 DNA2 Zornitza Stark Mode of inheritance for gene: DNA2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.1166 DNA2 Zornitza Stark Mode of inheritance for gene: DNA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial disease v0.1165 DNA2 Zornitza Stark Publications for gene: DNA2 were set to
Mitochondrial disease v0.1164 DLD Zornitza Stark Marked gene: DLD as ready
Mitochondrial disease v0.1164 DLD Zornitza Stark Gene: dld has been classified as Green List (High Evidence).
Mitochondrial disease v0.1164 DLD Zornitza Stark Phenotypes for gene: DLD were changed from to Dihydrolipoamide dehydrogenase deficiency MIM#246900
Mitochondrial disease v0.1163 DLD Zornitza Stark Publications for gene: DLD were set to
Mitochondrial disease v0.1162 DLD Zornitza Stark Mode of inheritance for gene: DLD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1161 DLAT Zornitza Stark Marked gene: DLAT as ready
Mitochondrial disease v0.1161 DLAT Zornitza Stark Gene: dlat has been classified as Green List (High Evidence).
Mitochondrial disease v0.1161 DLAT Zornitza Stark Phenotypes for gene: DLAT were changed from to Pyruvate dehydrogenase E2 deficiency MIM#245348
Mitochondrial disease v0.1160 DLAT Zornitza Stark Publications for gene: DLAT were set to
Mitochondrial disease v0.1159 DLAT Zornitza Stark Mode of inheritance for gene: DLAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1158 DGUOK Zornitza Stark Marked gene: DGUOK as ready
Mitochondrial disease v0.1158 DGUOK Zornitza Stark Gene: dguok has been classified as Green List (High Evidence).
Mitochondrial disease v0.1158 DARS2 Zornitza Stark Marked gene: DARS2 as ready
Mitochondrial disease v0.1158 DARS2 Zornitza Stark Gene: dars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1158 DARS2 Zornitza Stark Phenotypes for gene: DARS2 were changed from to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105
Mitochondrial disease v0.1157 DARS2 Zornitza Stark Publications for gene: DARS2 were set to
Mitochondrial disease v0.1156 DARS2 Zornitza Stark Mode of inheritance for gene: DARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1155 CYC1 Zornitza Stark Marked gene: CYC1 as ready
Mitochondrial disease v0.1155 CYC1 Zornitza Stark Gene: cyc1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1155 CYC1 Zornitza Stark Phenotypes for gene: CYC1 were changed from to Mitochondrial complex III deficiency, nuclear type 6 MIM#615453
Mitochondrial disease v0.1154 CYC1 Zornitza Stark Publications for gene: CYC1 were set to
Mitochondrial disease v0.1153 CYC1 Zornitza Stark Mode of inheritance for gene: CYC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1152 COX7B Zornitza Stark Marked gene: COX7B as ready
Mitochondrial disease v0.1152 COX7B Zornitza Stark Gene: cox7b has been classified as Green List (High Evidence).
Mitochondrial disease v0.1152 COX7B Zornitza Stark Phenotypes for gene: COX7B were changed from to Linear skin defects with multiple congenital anomalies 2, MIM#300887
Mitochondrial disease v0.1151 COX7B Zornitza Stark Publications for gene: COX7B were set to
Mitochondrial disease v0.1150 COX7B Zornitza Stark Mode of inheritance for gene: COX7B was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disease v0.1149 COQ9 Zornitza Stark Marked gene: COQ9 as ready
Mitochondrial disease v0.1149 COQ9 Zornitza Stark Gene: coq9 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1149 COQ9 Zornitza Stark Phenotypes for gene: COQ9 were changed from to Coenzyme Q10 deficiency, primary, 5, MIM#614654
Mitochondrial disease v0.1148 COQ9 Zornitza Stark Publications for gene: COQ9 were set to
Mitochondrial disease v0.1147 COQ9 Zornitza Stark Mode of inheritance for gene: COQ9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1146 COQ8B Zornitza Stark Marked gene: COQ8B as ready
Mitochondrial disease v0.1146 COQ8B Zornitza Stark Gene: coq8b has been classified as Green List (High Evidence).
Mitochondrial disease v0.1146 COQ8B Zornitza Stark Phenotypes for gene: COQ8B were changed from to Nephrotic syndrome, type 9 MIM#615573
Mitochondrial disease v0.1145 COQ8B Zornitza Stark Publications for gene: COQ8B were set to
Mitochondrial disease v0.1144 COQ8B Zornitza Stark Mode of inheritance for gene: COQ8B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1143 COQ8A Zornitza Stark Marked gene: COQ8A as ready
Mitochondrial disease v0.1143 COQ8A Zornitza Stark Gene: coq8a has been classified as Green List (High Evidence).
Mitochondrial disease v0.1143 COQ8A Zornitza Stark Phenotypes for gene: COQ8A were changed from to Coenzyme Q10 deficiency, primary, 4 MIM#612016
Mitochondrial disease v0.1142 COQ8A Zornitza Stark Publications for gene: COQ8A were set to
Mitochondrial disease v0.1141 COQ8A Zornitza Stark Mode of inheritance for gene: COQ8A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1140 COQ6 Zornitza Stark Marked gene: COQ6 as ready
Mitochondrial disease v0.1140 COQ6 Zornitza Stark Gene: coq6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1140 COQ6 Zornitza Stark Phenotypes for gene: COQ6 were changed from to Coenzyme Q10 deficiency, primary, 6 MIM#614650
Mitochondrial disease v0.1139 COQ6 Zornitza Stark Publications for gene: COQ6 were set to
Mitochondrial disease v0.1138 COQ6 Zornitza Stark Mode of inheritance for gene: COQ6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1137 CLPP Zornitza Stark Marked gene: CLPP as ready
Mitochondrial disease v0.1137 CLPP Zornitza Stark Gene: clpp has been classified as Green List (High Evidence).
Mitochondrial disease v0.1137 CLPP Zornitza Stark Phenotypes for gene: CLPP were changed from to Perrault syndrome 3, MIM# 614129
Mitochondrial disease v0.1136 CLPP Zornitza Stark Publications for gene: CLPP were set to
Mitochondrial disease v0.1135 CLPP Zornitza Stark Mode of inheritance for gene: CLPP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1134 BOLA3 Zornitza Stark Marked gene: BOLA3 as ready
Mitochondrial disease v0.1134 BOLA3 Zornitza Stark Gene: bola3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1134 BOLA3 Zornitza Stark Phenotypes for gene: BOLA3 were changed from to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299
Mitochondrial disease v0.1133 BOLA3 Zornitza Stark Publications for gene: BOLA3 were set to
Mitochondrial disease v0.1132 BOLA3 Zornitza Stark Mode of inheritance for gene: BOLA3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1131 BCS1L Zornitza Stark Marked gene: BCS1L as ready
Mitochondrial disease v0.1131 BCS1L Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence).
Mitochondrial disease v0.1131 BCS1L Zornitza Stark Phenotypes for gene: BCS1L were changed from to Bjornstad syndrome, MIM# 262000; Leigh syndrome, MIM# 256000; BCS1L-related mitochondrial disease
Mitochondrial disease v0.1130 BCS1L Zornitza Stark Publications for gene: BCS1L were set to
Mitochondrial disease v0.1129 BCS1L Zornitza Stark Mode of inheritance for gene: BCS1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1128 VCP Zornitza Stark Marked gene: VCP as ready
Mitochondrial disease v0.1128 VCP Zornitza Stark Gene: vcp has been classified as Green List (High Evidence).
Mitochondrial disease v0.1128 VCP Zornitza Stark Publications for gene: VCP were set to 29884839; 35273561; 37678339
Mitochondrial disease v0.1127 VCP Zornitza Stark reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disease v0.1127 Zornitza Stark Added reviews for gene VCP from panel Early-onset Dementia
Mitochondrial disease v0.1126 TMEM126A Zornitza Stark Marked gene: TMEM126A as ready
Mitochondrial disease v0.1126 TMEM126A Zornitza Stark Gene: tmem126a has been classified as Green List (High Evidence).
Mitochondrial disease v0.1126 TMEM126A Zornitza Stark Publications for gene: TMEM126A were set to 29884839; 33879611
Mitochondrial disease v0.1125 TMEM126A Zornitza Stark changed review comment from: Association with OA: More than 5 unrelated families reported, functional data. Only a single family reported with deafness in addition to OA.; to: Association with OA: More than 5 unrelated families reported, functional data. Only a single family reported with deafness in addition to OA.

TMEM126A is a Complex I assembly factor.
Mitochondrial disease v0.1125 Zornitza Stark Added reviews for gene TMEM126A from panel Mendeliome
Mitochondrial disease v0.1124 RMRP Zornitza Stark Marked gene: RMRP as ready
Mitochondrial disease v0.1124 RMRP Zornitza Stark Gene: rmrp has been classified as Green List (High Evidence).
Mitochondrial disease v0.1124 RMRP Zornitza Stark Publications for gene: RMRP were set to 29884839; 38337186
Mitochondrial disease v0.1123 RMRP Zornitza Stark changed review comment from: Over 60 pathogenic RMRP variants have been reported resulting in CHH phenotypes; multiple mouse models

Homozygous and Compound heterozygous (insertions, duplications and missense) variants have been reported resulting in loss of function.
*Founder variant g.70A>G (Amish and Finnish populations)

CHH individuals present with variable features that may include: shortened limbs, short stature, metaphysical dysplasia, fine, sparse and/or light-coloured hair, hematologic abnormalities and a spectrum of combined immunodeficiency.

Anauxetic dysplasia 1, MIM# 607095 is a more severe phenotype, whereas Metaphyseal dysplasia without hypotrichosis, MIM# 250460 is milder.
; to: Over 60 pathogenic RMRP variants have been reported resulting in CHH phenotypes; multiple mouse models

Homozygous and Compound heterozygous (insertions, duplications and missense) variants have been reported resulting in loss of function.
*Founder variant g.70A>G (Amish and Finnish populations)

CHH individuals present with variable features that may include: shortened limbs, short stature, metaphysical dysplasia, fine, sparse and/or light-coloured hair, hematologic abnormalities and a spectrum of combined immunodeficiency.

Anauxetic dysplasia 1, MIM# 607095 is a more severe phenotype, whereas Metaphyseal dysplasia without hypotrichosis, MIM# 250460 is milder.

Gene encodes RNA component of mitochondrial RNA processing endoribonuclease
Mitochondrial disease v0.1123 Zornitza Stark Added reviews for gene RMRP from panel Mendeliome
Mitochondrial disease v0.1122 PTRH2 Zornitza Stark Marked gene: PTRH2 as ready
Mitochondrial disease v0.1122 PTRH2 Zornitza Stark Gene: ptrh2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1122 PTRH2 Zornitza Stark Publications for gene: PTRH2 were set to 29884839; 37239392
Mitochondrial disease v0.1121 PTRH2 Zornitza Stark changed review comment from: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease-1 (IMNEPD1) is an autosomal recessive multisystemic disorder with variable expressivity. The core features usually include global developmental delay with impaired intellectual development and speech delay, ataxia, sensorineural hearing loss, and pancreatic insufficiency. Additional features may include peripheral neuropathy, postnatal microcephaly, dysmorphic facial features, and cerebellar atrophy.

More than 5 unrelated families reported. The Q85P missense variant is reported in several families, likely founder effect.; to: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease-1 (IMNEPD1) is an autosomal recessive multisystemic disorder with variable expressivity. The core features usually include global developmental delay with impaired intellectual development and speech delay, ataxia, sensorineural hearing loss, and pancreatic insufficiency. Additional features may include peripheral neuropathy, postnatal microcephaly, dysmorphic facial features, and cerebellar atrophy.

More than 5 unrelated families reported. The Q85P missense variant is reported in several families, likely founder effect.

Protein is involved in mitochondrial translation.
Mitochondrial disease v0.1121 Zornitza Stark Added reviews for gene PTRH2 from panel Mendeliome
Mitochondrial disease v0.1120 PRKN Zornitza Stark Marked gene: PRKN as ready
Mitochondrial disease v0.1120 PRKN Zornitza Stark Gene: prkn has been classified as Green List (High Evidence).
Mitochondrial disease v0.1120 PRKN Zornitza Stark changed review comment from: Parkin regulates the clearance of dysfunctional mitochondria.; to: Well established gene-disease association.

Parkin regulates the clearance of dysfunctional mitochondria.
Mitochondrial disease v0.1120 PRKN Zornitza Stark edited their review of gene: PRKN: Changed publications: 20837857
Mitochondrial disease v0.1120 PRKN Zornitza Stark edited their review of gene: PRKN: Changed phenotypes: Parkinson disease, juvenile, type 2, MIM# 600116; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1120 PRKN Zornitza Stark reviewed gene: PRKN: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disease v0.1120 PAM16 Zornitza Stark Marked gene: PAM16 as ready
Mitochondrial disease v0.1120 PAM16 Zornitza Stark Gene: pam16 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1120 PAM16 Zornitza Stark Publications for gene: PAM16 were set to 29884839; 24786642; 35385740; 36438081
Mitochondrial disease v0.1119 PAM16 Zornitza Stark reviewed gene: PAM16: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1119 Zornitza Stark Added reviews for gene PAM16 from panel Mendeliome
Mitochondrial disease v0.1118 GPD1 Zornitza Stark edited their review of gene: GPD1: Changed phenotypes: Hypertriglyceridemia, transient infantile MIM#614480
Mitochondrial disease v0.1118 GPD1 Zornitza Stark Marked gene: GPD1 as ready
Mitochondrial disease v0.1118 GPD1 Zornitza Stark Gene: gpd1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1118 GPD1 Zornitza Stark changed review comment from: GPD1 is a cytosolic enzyme that works with the mitochondrial GPD2 enzyme to form the glycerol 3-phosphate shuttle, which transports reducing equivalents (NADH) into the mitochondria.; to: GPD1 is a cytosolic enzyme that works with the mitochondrial GPD2 enzyme to form the glycerol 3-phosphate shuttle, which transports reducing equivalents (NADH) into the mitochondria.

Bi-allelic variants cause transient infantile hypertriglyceridemia which is characterized by onset of moderate to severe transient hypertriglyceridemia in infancy that normalizes with age. The hypertriglyceridemia is associated with hepatomegaly, moderately elevated transaminases, persistent fatty liver, and the development of hepatic fibrosis.

More than 5 unrelated families reported.
Mitochondrial disease v0.1118 GPD1 Zornitza Stark edited their review of gene: GPD1: Changed publications: 22226083, 24549054, 35365473, 34484308, 33447932
Mitochondrial disease v0.1118 GPD1 Zornitza Stark reviewed gene: GPD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1118 L2HGDH Zornitza Stark Marked gene: L2HGDH as ready
Mitochondrial disease v0.1118 L2HGDH Zornitza Stark Gene: l2hgdh has been classified as Green List (High Evidence).
Mitochondrial disease v0.1118 L2HGDH Zornitza Stark Phenotypes for gene: L2HGDH were changed from Disorders of mitochondrial metabolite repair; L-2-hydroxyglutaric aciduria MONDO:0009370 to L-2-hydroxyglutaric aciduria, MIM#236792
Mitochondrial disease v0.1117 L2HGDH Zornitza Stark Publications for gene: L2HGDH were set to 29884839; 37995940
Mitochondrial disease v0.1116 L2HGDH Zornitza Stark edited their review of gene: L2HGDH: Changed phenotypes: L-2-hydroxyglutaric aciduria, MIM#236792
Mitochondrial disease v0.1116 L2HGDH Zornitza Stark reviewed gene: L2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 37113859, 34270333, 17475916, 28137912, 15385440; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1116 HSPA9 Zornitza Stark Marked gene: HSPA9 as ready
Mitochondrial disease v0.1116 HSPA9 Zornitza Stark Gene: hspa9 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1116 HSPA9 Zornitza Stark Phenotypes for gene: HSPA9 were changed from even-plus syndrome MONDO:0014801; Disorders of mitochondrial protein quality control to Anaemia, sideroblastic, 4, MIM# 182170; Even-plus syndrome, MIM# 616854
Mitochondrial disease v0.1115 HSPA9 Zornitza Stark Publications for gene: HSPA9 were set to 29884839; 21123823; 26598328
Mitochondrial disease v0.1114 HSPA9 Zornitza Stark Mode of inheritance for gene: HSPA9 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.1113 HSPA9 Zornitza Stark changed review comment from: HSPA9 is a mitochondrial chaperone. Well established association with sideroblastic anaemia and Even-plus syndrome which is characterised by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis.; to: HSPA9 is a mitochondrial chaperone. Established association between mono-allelic variants and sideroblastic anaemia and between biallelic variants and Even-plus syndrome. The latter is characterised by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis.
Mitochondrial disease v0.1113 HSPA9 Zornitza Stark edited their review of gene: HSPA9: Changed publications: 26491070, 39196378, 36094340, 38284453, 38281662, 35779070
Mitochondrial disease v0.1113 HSPA9 Zornitza Stark reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Anaemia, sideroblastic, 4, MIM# 182170, Even-plus syndrome, MIM# 616854; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.1113 AIFM1 Zornitza Stark Marked gene: AIFM1 as ready
Mitochondrial disease v0.1113 AIFM1 Zornitza Stark Gene: aifm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1113 AIFM1 Zornitza Stark Phenotypes for gene: AIFM1 were changed from to Combined oxidative phosphorylation deficiency 6, 300816; Cowchock syndrome, 310490; Deafness, X-linked 5, 300614; Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232
Mitochondrial disease v0.1112 AIFM1 Zornitza Stark Mode of inheritance for gene: AIFM1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disease v0.1111 AGK Zornitza Stark Marked gene: AGK as ready
Mitochondrial disease v0.1111 AGK Zornitza Stark Gene: agk has been classified as Green List (High Evidence).
Mitochondrial disease v0.1111 AGK Zornitza Stark Phenotypes for gene: AGK were changed from Sengers syndrome, MIM#212350 to Sengers syndrome, MIM#212350; Cataract 38 MIM#614691
Mitochondrial disease v0.1110 AGK Zornitza Stark Publications for gene: AGK were set to 22415731; 25208612; 22415731; 25208612
Mitochondrial disease v0.1109 AGK Zornitza Stark reviewed gene: AGK: Rating: GREEN; Mode of pathogenicity: None; Publications: 37354892; Phenotypes: Sengers syndrome, MIM#212350, Cataract 38 MIM#614691; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1109 MT-ND1 Zornitza Stark commented on gene: MT-ND1: DEFINITIVE by ClinGen.

There were four recurrent variants (m.3697G>A, m.3890G>A, m.3635G>A, m.3902_3908delinsGCAAGGT). Affected individuals present with a broad phenotypic spectrum of disease including Leber Hereditary Optic Neuropathy (LHON), mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), Leigh syndrome, and exercise intolerance phenotypes. The age of onset is also highly variable, ranging from infantile to adult. Muscle biopsies variably reveal focal subsarcolemmal accumulation of mitochondria, ragged red fibers, and isolated complex I deficiency.
Mitochondrial disease v0.1109 MT-CO3 Zornitza Stark Publications for gene: MT-CO3 were set to 11063732; 33863631; 34054915; 8630495; 9634511; 12414820; 21163656; 16288875; 8630495; 9634511
Mitochondrial disease v0.1108 MT-CO3 Zornitza Stark Tag mtDNA tag was added to gene: MT-CO3.
Mitochondrial disease v0.1108 MT-CYB Zornitza Stark commented on gene: MT-CYB: DEFINITIVE by ClinGen.

Clinical presentation is with progressive exercise intolerance as well as progressive multisystem disease manifestations (encephalopathy, headaches, ataxia, hearing loss, cataracts, retinal dystrophy, ophthalmoplegia, epilepsy, nausea, vomiting, Wolff-Parkinson-White arrhythmia). Affected individuals typically have elevated lactate levels with muscle biopsies revealing an isolated complex III deficiency and ragged red fibers.
Mitochondrial disease v0.1108 MT-CO3 Zornitza Stark Phenotypes for gene: MT-CO3 were changed from Leigh syndrome; Leigh-like syndrome; Myopathy; Encephalopathy and myopathy to Mitochondrial disease MONDO:0044970, MT-CO3-related
Mitochondrial disease v0.1107 MT-CO3 Zornitza Stark Publications for gene: MT-CO3 were set to 11063732; 33863631; 34054915; 8630495; 9634511; 12414820; 21163656; 16288875; 8630495; 9634511
Mitochondrial disease v0.1106 MT-CO3 Zornitza Stark Publications for gene: MT-CO3 were set to 20525945; 9634511; 11063732; 12414820
Mitochondrial disease v0.1105 MT-CO3 Zornitza Stark reviewed gene: MT-CO3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11063732, 33863631, 34054915, 8630495, 9634511, 12414820, 21163656, 16288875, 8630495, 9634511; Phenotypes: Mitochondrial disease MONDO:0044970, MT-CO3-related; Mode of inheritance: MITOCHONDRIAL
Mitochondrial disease v0.1105 MT-CO2 Zornitza Stark Publications for gene: MT-CO2 were set to 34325999; 30315213; 28521807
Mitochondrial disease v0.1104 MT-CO2 Zornitza Stark edited their review of gene: MT-CO2: Added comment: DEFINITIVE by ClinGen.

At least eight variants (m.7587T>C, m.7671T>A, m.7896G>A, m.7630del, m.8156dup, m.8156del, m.8163A>G, m.8088del) reported in in eight individuals across multiple publications. Single fiber testing further supported the pathogenicity of several of these variants. Age of onset in affected individuals ranged from childhood to the mid-40s. Clinical features included Leigh syndrome, myopathy, muscle wasting, ataxia, epilepsy, stroke-like episodes, global developmental delay, cognitive decline, psychosis, axonal sensorimotor neuropathy, sensorineural hearing loss, retinitis pigmentosa, cataracts, optic atrophy, and left ventricular hypertrophy. Brain imaging was variable and ranged from normal to findings consistent with Leigh syndrome, cerebral and cerebellar atrophy, and agenesis of the corpus callosum. Muscle biopsies showed ragged red fibers, COX-deficient fibers, lipid accumulation, subsarcolemmal accumulation of mitochondria, and complex IV deficiency. Metabolic screening investigations showed elevated lactate. Heteroplasmy levels in affected individuals were highest in muscle when multiple tissues were assessed (56-95% in muscle, undetectable to 67% in blood, 33-49% in buccal, undetectable to 89% in skin fibroblasts, and undetectable to 49% in urine). The mechanism of pathogenicity appears to be loss of function resulting in specific loss of complex IV activity. This gene-disease relationship is also supported by known biochemical function and in vitro functional assays demonstrating altered mitochondrial function as a result of variants in MT-CO2.; Changed publications: 34325999, 30315213, 28521807, 10205264, 10486321, 11558799, 18245391, 23616164, 31167410, 23965802, 30030519
Mitochondrial disease v0.1104 MT-CO1 Zornitza Stark Phenotypes for gene: MT-CO1 were changed from Leber's optic atrophy; Sideroblastic anaemia; Cytochrome c oxidase deficiency; Myoglobinuria to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related
Mitochondrial disease v0.1103 MT-CO1 Zornitza Stark Publications for gene: MT-CO1 were set to 30743023; 39460813; 24956508
Mitochondrial disease v0.1102 MT-CO1 Zornitza Stark edited their review of gene: MT-CO1: Added comment: DEFINITIVE by ClinGen for mitochondrial disease.

At least eight variants (m.5920G>A, m.6328C>T, m.6579G>A, m.6597C>A, m.6698del, m.6708G>A, m.6930G>A, m.7402del) have been reported in eight individuals across multiple publications. Single fiber testing and cybrid analyses supported the pathogenicity of several of these variants. Age of onset in affected individuals ranged from infancy to adolescence. Clinical features included Leigh syndrome, cognitive decline, exercise intolerance, myoglobinuria, stroke-like episodes, myoclonic epilepsy, cerebellar ataxia, muscle weakness and atrophy, cataracts, optic atrophy, sensorineural hearing loss, and left ventricular hypertrophy. Brain imaging was variable and ranged from normal to findings consistent with LSS, cerebellar atrophy, and cortical atrophy. Muscle biopsies showed ragged red fibers, COX-deficient fibers, and complex IV deficiency. Metabolic laboratory investigations revealed normal to elevated lactate and creatine kinase (CK). Heteroplasmy levels in affected individuals were highest in muscle when multiple tissues were assessed (61-95% in muscle, undetectable to 30% in blood, undetectable to 40% in skin fibroblasts, undetectable in hair follicles when tested, and 15-70% in urine).

The mechanism of pathogenicity appears to be loss of function resulting in specific loss of complex IV activity. This gene-disease relationship is also supported by known biochemical function, in vitro functional assays, and a mouse model, all of which demonstrate altered mitochondrial function as a result of variants in MT-CO1.; Changed publications: 30743023, 39460813, 24956508, 10441567, 10980727, 15751226, 16284789, 18977334, 22832341, 18276892, 30030519
Mitochondrial disease v0.1102 MT-ATP8 Zornitza Stark Phenotypes for gene: MT-ATP8 were changed from Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency to Mitochondrial disease MONDO:0044970, MT-ATP8 related
Mitochondrial disease v0.1101 MT-ATP8 Zornitza Stark edited their review of gene: MT-ATP8: Changed phenotypes: Mitochondrial disease MONDO:0044970, MT-ATP8 related
Mitochondrial disease v0.1101 MT-ATP8 Zornitza Stark Publications for gene: MT-ATP8 were set to
Mitochondrial disease v0.1100 MT-ATP8 Zornitza Stark Classified gene: MT-ATP8 as Amber List (moderate evidence)
Mitochondrial disease v0.1100 MT-ATP8 Zornitza Stark Gene: mt-atp8 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1099 MT-ATP8 Zornitza Stark Deleted their comment
Mitochondrial disease v0.1099 MT-ATP8 Zornitza Stark edited their review of gene: MT-ATP8: Added comment: LIMITED by ClinGen. Three variants (m.8403T>C, m.8411A>G, m.8424T>C) have been reported in three individuals. Age of onset varied from birth to the 30s. Clinical features included muscle weakness, wasting, and cramping; dysarthria, headache, periodic paralysis, seizures, mood disorder, neuropathy, pancreatitis, diarrhoea, and weight loss. Brain imaging revealed cerebellar atrophy; lactate was elevated. The gene-disease relationship is also supported by a biochemical function (complex V subunit) shared with other genes associated with primary mitochondrial disease, functional alteration in non-patient cells, and model organisms.; Changed rating: AMBER; Changed publications: 24153443, 20207608, 32858252, 33340416, 32858252, 19759059, 22919063
Mitochondrial disease v0.1099 FH Zornitza Stark Marked gene: FH as ready
Mitochondrial disease v0.1099 FH Zornitza Stark Gene: fh has been classified as Green List (High Evidence).
Mitochondrial disease v0.1099 FH Zornitza Stark Phenotypes for gene: FH were changed from to hereditary leiomyomatosis and renal cell cancer MONDO:0007888; fumaric aciduria MONDO:0011730
Mitochondrial disease v0.1098 FH Zornitza Stark Publications for gene: FH were set to
Mitochondrial disease v0.1097 FH Zornitza Stark Mode of inheritance for gene: FH was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.1096 FASTKD5 Zornitza Stark Phenotypes for gene: FASTKD5 were changed from Leigh syndrome MONDO:0009723, FASTKD5-related to Mitochondrial complex IV deficiency, nuclear type 24, MIM# 621431
Mitochondrial disease v0.1095 FASTKD5 Zornitza Stark reviewed gene: FASTKD5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 24, MIM# 621431; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1095 KARS Zornitza Stark Marked gene: KARS as ready
Mitochondrial disease v0.1095 KARS Zornitza Stark Gene: kars has been classified as Green List (High Evidence).
Mitochondrial disease v0.1095 KARS Zornitza Stark Phenotypes for gene: KARS were changed from to Leukoencephalopathy with or without deafness (LEPID), MIM#619147; Deafness, autosomal recessive 89, MIM# 613916; Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196
Mitochondrial disease v0.1094 KARS Zornitza Stark Publications for gene: KARS were set to
Mitochondrial disease v0.1093 KARS Zornitza Stark Mode of inheritance for gene: KARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1092 COX4I1 Lucy Spencer Classified gene: COX4I1 as Green List (high evidence)
Mitochondrial disease v0.1092 COX4I1 Lucy Spencer Gene: cox4i1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1091 Lucy Spencer Added reviews for gene COX4I1 from panel Mendeliome
Mitochondrial disease v0.1090 COQ5 Zornitza Stark Phenotypes for gene: COQ5 were changed from Coenzyme Q10 deficiency, primary 9, MIM#619028; Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability to Coenzyme Q10 deficiency, primary, 9 MIM#619028
Mitochondrial disease v0.1089 COQ5 Zornitza Stark Publications for gene: COQ5 were set to 29044765
Mitochondrial disease v0.1088 COQ5 Zornitza Stark Classified gene: COQ5 as Green List (high evidence)
Mitochondrial disease v0.1088 COQ5 Zornitza Stark Gene: coq5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1088 COQ5 Zornitza Stark Classified gene: COQ5 as Green List (high evidence)
Mitochondrial disease v0.1088 COQ5 Zornitza Stark Gene: coq5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1087 Lucy Spencer Added reviews for gene COQ5 from panel Mendeliome
Mitochondrial disease v0.1086 NUP62 Chirag Patel gene: NUP62 was added
gene: NUP62 was added to Mitochondrial disease. Sources: ClinGen
disputed tags were added to gene: NUP62.
Mode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NUP62 were set to Leigh syndrome, MONDO:0009723
Review for gene: NUP62 was set to RED
Added comment: ClinGen DISPUTED - Dec 2020
Sources: ClinGen
Mitochondrial disease v0.1085 AGK Chirag Patel Source Victorian Clinical Genetics Services was removed from AGK.
Source Australian Genomics Health Alliance Mitochondrial Flagship was removed from AGK.
Source Expert list was added to AGK.
Mode of inheritance for gene AGK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AGK were changed from to Sengers syndrome, MIM#212350
Publications for gene AGK were changed from 22415731; 25208612; 22415731; 25208612 to 22415731; 25208612; 22415731; 25208612
Mitochondrial disease v0.1084 DGUOK Chirag Patel Source Victorian Clinical Genetics Services was removed from DGUOK.
Source Australian Genomics Health Alliance Mitochondrial Flagship was removed from DGUOK.
Source Victorian Clinical Genetics Services was removed from DGUOK.
Source ClinGen was added to DGUOK.
Mode of inheritance for gene DGUOK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DGUOK were changed from to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880; Portal hypertension, noncirrhotic, 1, MIM# 617068; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, MIM# 617070
Publications for gene DGUOK were changed from 11687800, 12874104, 15887277, 23043144, 26874653, 18205204, 29137425, 30956829, 35750291, 28215579, 20301766, 28215579, 17073823, 31127938 to 11687800, 12874104, 15887277, 23043144, 26874653, 18205204, 29137425, 30956829, 35750291, 28215579, 20301766, 28215579, 17073823, 31127938
Mitochondrial disease v0.1083 ATP5O Bryony Thompson Tag new gene name tag was added to gene: ATP5O.
Mitochondrial disease v0.1082 DNM1L Chirag Patel Source Victorian Clinical Genetics Services was removed from DNM1L.
Source Australian Genomics Health Alliance Mitochondrial Flagship was removed from DNM1L.
Source ClinGen was added to DNM1L.
Source Literature was added to DNM1L.
Mode of inheritance for gene DNM1L was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of pathogenicity for gene DNM1L was changed from to Other
Phenotypes for gene: DNM1L were changed from to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, MONDO:0013726
Publications for gene DNM1L were changed from 31587467, 27145208, 26604000, 27301544, 26931468, 33718295, 30109270, 26825290, 27328748 to 31587467, 27145208, 26604000, 27301544, 26931468, 33718295, 30109270, 26825290, 27328748
Mitochondrial disease v0.1081 MRPS36 Zornitza Stark Tag new gene name tag was added to gene: MRPS36.
Mitochondrial disease v0.1081 MRPS36 Krithika Murali changed review comment from: 3 individuals from 2 unrelated families reported with biallelic MRPS36 variants (current HGNC is KGD4). Gene encodes E4 subunit of OGDHC complex. Individuals present with a phenotype consistent with Leigh syndrome including seizures, hypotonia, dystonia, brain imaging anomalies, persistent lactic acidosis and cardiomyopathy.

Patient-derived fibroblast studies demonstrates reduced OGDHC enzymatic activity, however, this functional evidence is not gene or variant-specific.
Sources: Literature; to: 3 individuals from 2 unrelated families reported with biallelic MRPS36 variants (current HGNC is KGD4). Gene encodes E4 subunit of OGDHC complex. Individuals present with a phenotype consistent with Leigh syndrome including seizures, hypotonia, dystonia, brain imaging anomalies, persistent lactic acidosis.
Cardiomyopathy also reported.

Patient-derived fibroblast studies demonstrates reduced OGDHC enzymatic activity, however, this functional evidence is not gene or variant-specific.
Sources: Literature
Mitochondrial disease v0.1081 MRPS36 Krithika Murali changed review comment from: 3 individuals with 2 unrelated families reported with biallelic MRPS36 variants (current HGNC is KGD4). Gene encodes E4 subunit of OGDHC complex. Individuals present with a phenotype consistent with Leigh syndrome including seizures, hypotonia, dystonia, brain imaging anomalies, persistent lactic acidosis and cardiomyopathy.

Patient-derived fibroblast studies demonstrates reduced OGDHC enzymatic activity, however, this functional evidence is not gene or variant-specific.
Sources: Literature; to: 3 individuals from 2 unrelated families reported with biallelic MRPS36 variants (current HGNC is KGD4). Gene encodes E4 subunit of OGDHC complex. Individuals present with a phenotype consistent with Leigh syndrome including seizures, hypotonia, dystonia, brain imaging anomalies, persistent lactic acidosis and cardiomyopathy.

Patient-derived fibroblast studies demonstrates reduced OGDHC enzymatic activity, however, this functional evidence is not gene or variant-specific.
Sources: Literature
Mitochondrial disease v0.1081 MRPS36 Krithika Murali Classified gene: MRPS36 as Amber List (moderate evidence)
Mitochondrial disease v0.1081 MRPS36 Krithika Murali Gene: mrps36 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1080 MRPS36 Krithika Murali Classified gene: MRPS36 as Amber List (moderate evidence)
Mitochondrial disease v0.1080 MRPS36 Krithika Murali Gene: mrps36 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1079 MRPS36 Krithika Murali Marked gene: MRPS36 as ready
Mitochondrial disease v0.1079 MRPS36 Krithika Murali Gene: mrps36 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.1079 MRPS36 Krithika Murali gene: MRPS36 was added
gene: MRPS36 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: MRPS36 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS36 were set to PMID: 41018056; 38685873
Phenotypes for gene: MRPS36 were set to Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related
Review for gene: MRPS36 was set to AMBER
Added comment: 3 individuals with 2 unrelated families reported with biallelic MRPS36 variants (current HGNC is KGD4). Gene encodes E4 subunit of OGDHC complex. Individuals present with a phenotype consistent with Leigh syndrome including seizures, hypotonia, dystonia, brain imaging anomalies, persistent lactic acidosis and cardiomyopathy.

Patient-derived fibroblast studies demonstrates reduced OGDHC enzymatic activity, however, this functional evidence is not gene or variant-specific.
Sources: Literature
Mitochondrial disease v0.1078 DNA2 Chirag Patel Source Victorian Clinical Genetics Services was removed from DNA2.
Source Australian Genomics Health Alliance Mitochondrial Flagship was removed from DNA2.
Source Expert list was added to DNA2.
Mode of inheritance for gene DNA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.1077 MT-TY Zornitza Stark Phenotypes for gene: MT-TY were changed from Progressive external ophthalmoplegia; Cardiomyopathy; Myopathy to Mitochondrial disease (MONDO:0044970), MT-TY-related
Mitochondrial disease v0.1076 MT-TY Zornitza Stark Publications for gene: MT-TY were set to
Mitochondrial disease v0.1075 MT-TY Zornitza Stark edited their review of gene: MT-TY: Added comment: DEFINITIVE by ClinGen.

Multiple individuals reported. Age of onset in affected individuals is variable and clinical features seen include myopathy with or without ophthalmoplegia. There is at least one case report with a more severe phenotype with neuropathy, ataxia, seizures, myoclonus, sensorineural hearing loss, and pigmentary retinopathy. Muscle biopsy in affected individuals has shown COX-negative and ragged red fibers, with variable mitochondrial respiratory chain enzyme deficiencies. The variants in affected individuals are often present at highest heteroplasmy levels in muscle and may be undetectable in other tissues such as blood and buccal tissue. Multiple single fiber studies were performed in these patients and supportive of variant pathogenicity; Changed publications: 11071502, 11756614, 11594340, 33279411, 30643656, 32684384, 32485333, 33279411; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TY-related
Mitochondrial disease v0.1075 MT-TW Zornitza Stark Phenotypes for gene: MT-TW were changed from Encephalomyopathy to Mitochondrial disease (MONDO:0044970), MT-TW-related
Mitochondrial disease v0.1074 MT-TW Zornitza Stark Publications for gene: MT-TW were set to
Mitochondrial disease v0.1073 MT-TW Zornitza Stark edited their review of gene: MT-TW: Added comment: DEFINITIVE by ClinGen.

At least 10 individuals reported. Age of onset in affected individuals ranged from childhood to adulthood. Clinical features in affected individuals included LSS, microcephaly, developmental delay and regression, cognitive decline, fatigue, seizures, ataxia, chorea, muscle wasting, axonal neuropathy, diabetes, liver steatosis and fibrosis, constipation, recurrent vomiting, failure to thrive, pigmentary retinopathy, ptosis, optic atrophy, ophthalmoplegia, sensorineural hearing loss, and hypertrophic and dilated cardiomyopathy. Brain imaging was variable and ranged from normal to findings consistent with LSS to generalized atrophy and white matter involvement.

Muscle biopsies showed ragged red fibers, COX-deficient fibers, and decreased respiratory chain enzyme activities. Metabolic laboratory investigations revealed elevated blood and cerebrospinal fluid lactate. Heteroplasmy levels in affected individuals were highest in muscle and/or liver when multiple tissues were assessed (25 - >95 % in muscle, 1 to >95% in blood, >95% in liver, 1-92% in skin fibroblasts, and 5% in urine when assessed). Functional studies to support variant pathogenicity.; Changed publications: 7695240, 9266739, 9673981, 12776230, 15054399, 18337306, 19809478, 26524491, 23841600, 30937556; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TW-related
Mitochondrial disease v0.1073 MT-TV Zornitza Stark Phenotypes for gene: MT-TV were changed from Ataxia; Seizures; Deafness to Mitochondrial disease (MONDO:0044970), MT-TV-related
Mitochondrial disease v0.1072 MT-TV Zornitza Stark Publications for gene: MT-TV were set to
Mitochondrial disease v0.1071 MT-TV Zornitza Stark edited their review of gene: MT-TV: Changed publications: 9450773, 12056939, 19252805, 15320572, 18314141, 24691472, 39468830
Mitochondrial disease v0.1071 MT-TV Zornitza Stark edited their review of gene: MT-TV: Added comment: DEFINITIVE by ClinGen.

At least 8 individuals reported. Age of onset in affected individuals ranged from childhood to adulthood. Clinical features in affected individuals included LSS, cognitive decline, fatigue, migraines, seizures, myoclonic jerks, ataxia, dystonia, dysarthria, imbalance, muscle weakness, axonal sensorimotor polyneuropathy, diabetes, gastrointestinal dysmotility, cataracts, retinitis pigmentosa, sensorineural hearing loss, and hypertrophic cardiomyopathy. Brain imaging was variable and ranged from normal to findings consistent with LSS, cerebellar and cerebral atrophy, brainstem atrophy, and basal ganglia calcifications. Muscle biopsies showed ragged red fibers, COX-deficient fibers, and normal to decreased respiratory chain enzyme activities. Metabolic laboratory investigations revealed elevated lactate.

Heteroplasmy levels in affected individuals were highest in muscle when multiple tissues were assessed (67% to homoplasmic in muscle, 70% to homoplasmic in blood, and homoplasmic in skin fibroblasts).; Changed publications: 9450773, 12056939, 19252805, 15320572, 18314141, 24691472; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TV-related
Mitochondrial disease v0.1071 MT-TT Zornitza Stark Publications for gene: MT-TT were set to
Mitochondrial disease v0.1070 MT-TT Zornitza Stark Classified gene: MT-TT as Green List (high evidence)
Mitochondrial disease v0.1070 MT-TT Zornitza Stark Gene: mt-tt has been classified as Green List (High Evidence).
Mitochondrial disease v0.1069 MT-TT Zornitza Stark edited their review of gene: MT-TT: Added comment: MODERATE by ClinGen.

At least 10 probands reported with 5 unique variants. Age of onset in affected individuals varied from the neonatal period to more than 50 years. Clinical features in affected individuals included neonatal lactic acidosis; myoclonic epilepsy and ragged red fibers (MERRF); Leber Hereditary Optic Neuropathy (LHON); myopathy, seizures, migraines, pigmentary retinopathy, hearing loss, and diabetes. Brain imaging findings were variable. Muscle biopsies showed ragged red fibers and COX-deficient fibers. Lab investigations showed elevated lactate. Heteroplasmy levels were highest in muscle when multiple tissues were assessed, and ranged from 33% to homoplasmy in muscle.; Changed rating: GREEN; Changed publications: 32083134, 8769114, 9367299, 1645537, 8511015, 22638997, 29760464, 30236074, 28187756, 35808913; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TT-related
Mitochondrial disease v0.1069 MT-TS2 Zornitza Stark Phenotypes for gene: MT-TS2 were changed from MERRF; MELAS; Cerebellar ataxia to Mitochondrial disease (MONDO:0044970), MT-TS2-related
Mitochondrial disease v0.1068 MT-TS2 Zornitza Stark Publications for gene: MT-TS2 were set to
Mitochondrial disease v0.1067 MT-TS2 Zornitza Stark edited their review of gene: MT-TS2: Added comment: MODERATE by ClinGen.

At least 7 individuals reported. Affected individuals had varying clinical features including cataracts, retinal dystrophy, hearing loss, myopathy, ataxia, seizures, global developmental delay, diabetes, Wolff-Parkinson-White arrhythmia, hypertrophic cardiomyopathy, and hypogonadotropic hypogonadism. Lab investigations revealed elevated blood lactate and elevated creatine kinase. Muscle biopsy, when performed, generally showed reduced activities of complexes I, I+III, III, and/or IV. Brain imaging was normal in some cases. In one individual brain imaging revealed changes in the basal ganglia and diffuse atrophy with an enlarged cisterna magna and in another showed changes in the cerebral white matter.

Heteroplasmy levels were variable – some individuals had the highest levels in muscle with the variant being undetectable in other tissues while others had the variant present at homoplasmy in multiple tissues. Northern blotting and single fiber testing further supported variant pathogenicity.; Changed publications: 9792552, 10090882, 16950817, 21257182, 22369973, 22378285; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TS2-related
Mitochondrial disease v0.1067 MT-TS1 Zornitza Stark Phenotypes for gene: MT-TS1 were changed from MERRF; MELAS; Deafness to Mitochondrial disease (MONDO:0044970), MT-TS1-related
Mitochondrial disease v0.1066 MT-TS1 Zornitza Stark Publications for gene: MT-TS1 were set to
Mitochondrial disease v0.1065 MT-TS1 Zornitza Stark edited their review of gene: MT-TS1: Added comment: DEFINITIVE by ClinGen.

At least 8 individuals reported. Clinical features seen in affected individuals range from isolated hearing loss to mitochondrial myopathy to mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) and myoclonus epilepsy, ragged red fibers (MERRF). One case of fatal neonatal lactic acidosis has been reported. Intrafamilial variability has been observed.

Muscle biopsy often shows COX-negative fibers and/or ragged red fibers. A combined mitochondrial chain respiratory deficiency (commonly involving complexes I and IV) may also be observed in muscle biopsies. Heteroplasmy levels in affected individuals are often near homoplasmy in muscle and lower in tissues such as blood and urine, although homoplasmy across multiple tissues has also been seen. One individual had mitochondrial myopathy with heteroplasmy levels as low as 37% heteroplasmy in muscle.

Multiple single fiber studies and cybrid analyses were performed in these patients and are supportive of variant pathogenicity.; Changed publications: 7669057, 9778262, 14605505, 23696415, 33279600, 7581383; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TS1-related
Mitochondrial disease v0.1065 MT-TR Zornitza Stark Phenotypes for gene: MT-TR were changed from Encephalomyopathy to mitochondrial disease (MONDO:0044970), MT-TR-related
Mitochondrial disease v0.1064 MT-TR Zornitza Stark Publications for gene: MT-TR were set to
Mitochondrial disease v0.1063 MT-TR Zornitza Stark edited their review of gene: MT-TR: Added comment: MODERATE by ClinGen.

At least 4 individuals reported. Cybrid studies and single fiber testing further supported the pathogenicity of several of the reported variants. Age of onset was in childhood and features seen in affected individuals included muscle weakness, ataxia, hypotonia, epilepsy, global developmental delay and regression, pigmentary retinopathy, optic atrophy, renal insufficiency, and hypertrophic cardiomyopathy. Muscle biopsies showed ragged red fibers and COX-negative fibers and variable respiratory chain enzyme deficiencies.; Changed publications: 15286228, 17588757, 19809478, 22781096; Changed phenotypes: mitochondrial disease (MONDO:0044970), MT-TR-related
Mitochondrial disease v0.1063 MT-TQ Zornitza Stark Phenotypes for gene: MT-TQ were changed from MELAS; deafness; mitochondrial myopathy to Mitochondrial disease (MONDO:0044970), MT-TQ-related
Mitochondrial disease v0.1062 MT-TQ Zornitza Stark Publications for gene: MT-TQ were set to
Mitochondrial disease v0.1061 MT-TQ Zornitza Stark Classified gene: MT-TQ as Amber List (moderate evidence)
Mitochondrial disease v0.1061 MT-TQ Zornitza Stark Gene: mt-tq has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1060 MT-TQ Zornitza Stark edited their review of gene: MT-TQ: Added comment: LIMITED by ClinGen.

Three unique variants (m.4332G>A, m.4369_4370insA, m.4381A>G) reported in three probands across 3 publications. Single fiber testing further supported the pathogenicity of several of these variants. Age of onset in affected individuals was five years old, teens, and 20 years old. Clinical features in affected individuals included stroke-like episodes, hearing loss, myopathy, and Leber Hereditary Optic Neuropathy (LHON). Brain imaging was variable. Muscle biopsies showed ragged red fibers and COX-negative fibers. Metabolic screening investigations were only reported in one individual and showed high cerebrospinal fluid (CSF) lactate with normal blood lactate. Heteroplasmy levels in affected individuals were highest in muscle when multiple tissues were assessed (61-87% in muscle).; Changed rating: AMBER; Changed publications: 11171912, 10996779, 17003408, 11335700; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TQ-related
Mitochondrial disease v0.1060 MT-TP Zornitza Stark Phenotypes for gene: MT-TP were changed from MERRF; myopathy to Mitochondrial disease (MONDO:0044970), MT-TP-related
Mitochondrial disease v0.1059 MT-TP Zornitza Stark Publications for gene: MT-TP were set to
Mitochondrial disease v0.1058 MT-TP Zornitza Stark edited their review of gene: MT-TP: Added comment: DEFINITIVE by ClinGen.

At least 9 individuals reported. Age of onset of affected individual is variable. Clinical features reported include myopathy, chronic progressive external ophthalmoplegia (CPEO), retinal dystrophy, and lactic acidosis. Muscle biopsy often shows classic findings of mitochondrial myopathy with COX-negative and ragged red fibers. Respiratory chain enzyme deficiencies may also be observed in muscle biopsies. The pathogenic variants were present at high levels of heteroplasmy in muscle tissue and, frequently, other tissues such as blood, saliva, buccal samples, urine, and fibroblasts harbored the variant at substantially lower heteroplasmy levels, including being undetectable. Affected individuals have been reported with heteroplasmy levels as low as 25-40% in muscle tissue. Single fiber studies were performed in several probands further supporting variant pathogenicity.; Changed publications: 7689388, 11196116, 19223931, 23696415, 19273760, 27536729, 27816331, 32305257, 32419253; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TP-related
Mitochondrial disease v0.1058 MT-TM Zornitza Stark Phenotypes for gene: MT-TM were changed from mitochondrial disease (MONDO:0044970), MT-TM-related to mitochondrial disease (MONDO:0044970), MT-TM-related
Mitochondrial disease v0.1058 MT-TM Zornitza Stark Phenotypes for gene: MT-TM were changed from mitochondrial disease (MONDO:0044970), MT-TM-related to mitochondrial disease (MONDO:0044970), MT-TM-related
Mitochondrial disease v0.1057 MT-TM Zornitza Stark Phenotypes for gene: MT-TM were changed from Mitochondrial myopathy to mitochondrial disease (MONDO:0044970), MT-TM-related
Mitochondrial disease v0.1057 MT-TM Zornitza Stark Publications for gene: MT-TM were set to
Mitochondrial disease v0.1056 MT-TM Zornitza Stark edited their review of gene: MT-TM: Added comment: DEFINITIVE by ClinGen.

Multiple individuals reported. The condition was first described in a 10-year-old girl with exercise intolerance, myopathy, and short stature with mildly elevated serum lactate. Subsequent publications have shown a consistent phenotype involving a mitochondrial myopathy (typically childhood onset) with elevated lactate. Chronic external progressive ophthalmoplegia (CPEO) is not common but has been reported. Basal ganglia lesions and Leigh syndrome spectrum/mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) overlap have also been reported in one patient. Retinitis pigmentosa has also been reported. Muscle biopsy often shows classic findings of mitochondrial myopathy with COX-negative and ragged red (or blue) fibers. Combined OXPHOS deficiencies in muscle are also observed.; Changed publications: 9633749, 24711008, 25468263, 30739820, 11335700, 31488384, 31022467, 29174468; Changed phenotypes: mitochondrial disease (MONDO:0044970), MT-TM-related
Mitochondrial disease v0.1056 MT-TL2 Zornitza Stark Publications for gene: MT-TL2 were set to
Mitochondrial disease v0.1055 MT-TL2 Zornitza Stark Phenotypes for gene: MT-TL2 were changed from Myopathy; Cardiomyopathy; Encephalomyopathy to Mitochondrial disease (MONDO:0044970), MT-TL2-related
Mitochondrial disease v0.1054 MT-TL2 Zornitza Stark edited their review of gene: MT-TL2: Added comment: DEFINITIVE by ClinGen.

Multiple individuals reported with a range of clinical phenotypes, including CPEO, retinopathy, hearing loss, myopathy, exercise intolerance, and peripheral neuropathy. There is a substantial amount of functional evidence for the reported variants, including numerous single fiber studies, and respiratory chain analyses showing clear evidence of OXPHOS defects; Changed publications: 8923013, 12398839, 19718780, 18977334, 21819490, 15649400, 15591266, 23847141, 20022607, 29052516; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TL2-related
Mitochondrial disease v0.1054 MT-TL1 Zornitza Stark Phenotypes for gene: MT-TL1 were changed from MELAS to Mitochondrial disease (MONDO:0044970), MT-TL1-related
Mitochondrial disease v0.1053 MT-TL1 Zornitza Stark Publications for gene: MT-TL1 were set to
Mitochondrial disease v0.1052 MT-TL1 Zornitza Stark edited their review of gene: MT-TL1: Added comment: DEFINITIVE by ClinGen.

Multiple individuals reported with a range of clinical presentations, including MELAS, myoclonus epilepsy, ragged red fibers (MERRF), Leigh syndrome spectrum, progressive external ophthalmoplegia (PEO), and maternally inherited deafness and diabetes (MIDD), as well as myopathy, hypertrophic cardiomyopathy, and renal disease. At least 7 unique variants reported with a substantial amount of functional evidence, including numerous cybrid analyses, single fiber studies, and respiratory chain analyses showing clear evidence of OXPHOS defects.; Changed publications: 9323566, 12221518, 20471262, 23220830, 23273904, 24338029, 23582502, 11271374, 23258140; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TL1-related
Mitochondrial disease v0.1052 MT-TK Zornitza Stark edited their review of gene: MT-TK: Added comment: DEFINITIVE by ClinGen.

Multiple individuals reported with wide spectrum of clinical presentations including MERRF, mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), Leigh syndrome spectrum, and mitochondrial neurogastrointestinal encephalopathy (MNGIE), as well as lipomas, myopathy, hypertrophic cardiomyopathy, hearing loss, diabetes, and episodic ataxia. Variant pathogenicity is supported by cybrid analyses, single fiber studies, and respiratory chain studies showing clear evidence of OXPHOS defects.; Changed publications: 9380435, 19618438, 17410322, 25559684, 1361099, 10868777, 35821181, 36675808; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TK-related
Mitochondrial disease v0.1052 MT-TI Zornitza Stark Phenotypes for gene: MT-TI were changed from Mitochondrial myopathy; Encephalopathy to Mitochondrial disease (MONDO:0044970), MT-TI-related
Mitochondrial disease v0.1051 MT-TI Zornitza Stark Publications for gene: MT-TI were set to
Mitochondrial disease v0.1050 MT-TI Zornitza Stark edited their review of gene: MT-TI: Added comment: DEFINITIVE by ClinGen.

More than 10 individuals reported. Clinical presentations included LSS, myoclonic epilepsy with ragged red fibers (MERRF) and chronic progressive external ophthalmoplegia (CPEO), in addition to rhabdomyolysis, cardiomyopathy, encephalopathy, exercise intolerance, muscle weakness, hypertension2, hypercholesterolaemia, and hypomagnesaemia. Heteroplasmy levels of MT-TI can be variable in tissues from the same individual. In general, variants tend to be lower in tissues such as blood, saliva, and buccal swab and urine and muscle heteroplasmy levels tend to be higher.; Changed publications: 15121771, 21982779, 23395828, 16120360, 9473477, 12767666, 10065021, 7646516, 20884012, 21292040, 1632786, 23696415, 34607911; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TI-related
Mitochondrial disease v0.1050 MT-TH Zornitza Stark Phenotypes for gene: MT-TH were changed from Dilated cardiomyopathy; Retinopathy; Deafness; MELAS; MERFF to Mitochondrial disease (MONDO:0044970), MT-TH-related
Mitochondrial disease v0.1049 MT-TH Zornitza Stark Publications for gene: MT-TH were set to
Mitochondrial disease v0.1048 MT-TH Zornitza Stark edited their review of gene: MT-TH: Added comment: DEFINITIVE by ClinGen.

More than 5 individuals reported. Age of onset in affected individuals varied from adolescence to the 40s. Clinical features included stroke-like episodes, seizures, myoclonus, ataxia, optic atrophy, retinal dystrophy, cataracts, hearing loss, hypogonadism, and mood disorder. Cerebellar vermis hypoplasia and signal changes in the basal ganglia, dentate nuclei, temporal lobes, and occipital lobes were seen on brain imaging.

Tissue biopsies identified ragged red fibers and COX-negative fibers. Laboratory investigations showed increased blood and cerebrospinal fluid lactate. Decreased activities of complexes I and IV were variably seen in muscle. Heteroplasmy levels of the variants in affected individuals ranged from 81% to homoplasmic in muscle, 33-87% in urine, 1-60% in blood, and undetectable to homoplasmic in fibroblasts. Single fiber testing, cybrid analysis, and Northern blot analysis further supported variant pathogenicity.

This gene-disease relationship is also supported by known biochemical function and functional alteration in patient and non-patient cells (in vitro functional assays demonstrated reduced rates of mitochondrial translation as a result of variants in MT-TH; PMID: 24920829, 21704194).; Changed publications: 12682337, 14967777, 15111688, 21704194, 21931169, 23696415, 35092007, 24920829, 21704194; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TH-related
Mitochondrial disease v0.1048 MT-TG Zornitza Stark Phenotypes for gene: MT-TG were changed from Cardiomyopathy to Mitochondrial disease (MONDO:0044970), MT-TG-related
Mitochondrial disease v0.1047 MT-TG Zornitza Stark Publications for gene: MT-TG were set to
Mitochondrial disease v0.1046 MT-TG Zornitza Stark edited their review of gene: MT-TG: Added comment: MODERATE by ClinGen.

Four variants reported in at least 6 individuals. Age of onset in affected individuals varied from early in life to the 20s. Clinical features included hypertrophic cardiomyopathy, myopathy, peripheral neuropathy, exercise intolerance, headache, seizures, ataxia, dystonic posturing, optic atrophy, retinal dystrophy, cataracts, and hearing loss. Progressive atrophy and bilateral basal ganglia calcifications were seen on brain imaging.

Tissue biopsies identified ragged red fibers and decreased COX histochemical activity in muscle. Lab values showed increased blood lactate and increased creatine kinase. Decreased activities of complexes I, III, and IV were observed in biopsied muscle.

Heteroplasmy levels of the variants in affected individuals ranged from 88-92% in muscle, 40-56% in urine, undetectable to 32% in blood, 27% in buccal samples, and was undetectable when assessed in fibroblasts. Single fiber testing and cybrid analysis further supported variant pathogenicity. This gene-disease relationship is also supported by known biochemical function and functional alterations in patient cells (in vitro functional assays demonstrated reduced rates of mitochondrial translation as a result of variants in MT-TG; PMID: 10090480).; Changed publications: 8079988, 9199564, 11971101, 16120360, 32337339, 35432167, 10090480; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TG-related
Mitochondrial disease v0.1046 MT-TF Zornitza Stark Phenotypes for gene: MT-TF were changed from MELAS; MERFF; Encephalopathy; Myopathy to Mitochondrial disease (MONDO:0044970), MT-TF-related
Mitochondrial disease v0.1045 MT-TF Zornitza Stark Publications for gene: MT-TF were set to
Mitochondrial disease v0.1044 MT-TF Zornitza Stark edited their review of gene: MT-TF: Added comment: DEFINITIVE by ClinGen.

Over 30 individuals reported. Age of onset in affected individuals varied from childhood to >60 years. Clinical features in affected individuals included mitochondrial myopathy, MELAS, myoclonic epilepsy and ragged red fibers (MERRF), chronic external progressive ophthalmoplegia (CPEO), Gitelman syndrome, epilepsy, epilepsia partialis continua (EPC), chronic kidney disease, retinal dystrophy, sensorineural hearing loss, neuropathy, and neurologic/cognitive/psychiatric decline. Some affected individuals had normal brain imaging while others had cerebral, cerebellar, and/or brainstem atrophy.

Muscle biopsies showed ragged red fibers, COX-negative fibers, and decreased respiratory chain enzyme activities in some cases, although activities were normal in other individuals. Laboratory investigations showed variable lactate levels (normal to elevated in blood, cerebrospinal fluid, and/or urine) and elevated creatine kinase (CK).

Heteroplasmy levels in affected individuals were highest in muscle when multiple tissues were assessed, and ranged from 58%-homoplasmic in muscle; 0-70% in hair, 0-homoplasmic in blood, fibroblast, and urine; and in one individual was 63% in a buccal sample.; Changed publications: 14659412, 9771776, 16806928, 21060018, 31463198, 32419253, 34607911, 21424749, 15184630, 20142618, 28267784, 31722346, 35472031, 9636664, 21882289, 16769874, 21914246, 31009750, 18977334; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TF-related
Mitochondrial disease v0.1044 MT-TE Zornitza Stark Phenotypes for gene: MT-TE were changed from Mitochondrial myopathy; Deafness; Diabetes to Mitochondrial disease (MONDO:0044970), MT-TE-related
Mitochondrial disease v0.1043 MT-TE Zornitza Stark Publications for gene: MT-TE were set to
Mitochondrial disease v0.1042 MT-TE Zornitza Stark edited their review of gene: MT-TE: Added comment: DEFINITIVE by ClinGen.

More than 15 individuals reported. Age of onset in affected individuals varied from birth to 30s. Clinical features in affected individuals included (benign) infantile reversible COX deficiency myopathy (also referred to RIRCD); chronic external progressive ophthalmoplegia (CPEO), mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS)/Leigh syndrome spectrum overlap, myoclonic epilepsy and ragged red fibers (MERRF); pigmentary retinopathy, migraines, myopathy, diabetes, pulmonary hypertension, ataxia, neuropathy, global developmental delay, dysarthria, and hearing loss. Brain imaging was variable. Muscle biopsies showed ragged red fibers, COX-negative fibers, and decreased respiratory chain enzyme activities in some cases, although activities were normal in other individuals.

Heteroplasmy levels in affected individuals were highest in muscle when multiple tissues were assessed, and were variable in other tissues when tested.; Changed publications: 8155739, 21194154, 17715279, 23334599, 7726155, 7726154, 9353617, 15048886, 15670724, 23847141, 23334599, 17266923, 17056256; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TE-related
Mitochondrial disease v0.1042 MT-TD Zornitza Stark Phenotypes for gene: MT-TD were changed from Mitochondrial myopathy to Mitochondrial disease (MONDO:0044970), MT-TD-related
Mitochondrial disease v0.1041 MT-TD Zornitza Stark Publications for gene: MT-TD were set to
Mitochondrial disease v0.1040 MT-TD Zornitza Stark edited their review of gene: MT-TD: Added comment: MODERATE by ClinGen.

At least 3 variants reported in unrelated individuals. These variants were generally present at high levels of heteroplasmy in muscle tissue and at lower to undetectable levels in other tissues such as blood, saliva, buccal tissue, urine, and fibroblasts, highlighting the diagnostic importance of muscle biopsy in MT-TD-related primary mitochondrial disease. Single fiber studies were performed in several individuals with results supporting variant pathogenicity.

This gene-disease association is also supported by functional implication given protein interaction with the multitude of other mitochondrial translation proteins linked to primary mitochondrial disease (PMID: 30030363 ). Respiratory deficient yeast strains due to a single variant in MT-TD have been created and compelling rescue studies have been performed (PMIDs: 7024270, 3054486). E. coli carrying the m.7526A>G variant were also shown to have significantly decreased aminoacylation rates (PMID: 19535463).; Changed publications: 9811342, 10488907, 16059939, 18676632, 23696415, 25447692, 27536005, 30030363, 3054486, 19535463; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TD-related
Mitochondrial disease v0.1040 MT-TC Zornitza Stark Publications for gene: MT-TC were set to
Mitochondrial disease v0.1039 MT-TC Zornitza Stark Phenotypes for gene: MT-TC were changed from MELAS; Dystonia to Mitochondrial disease (MONDO:0044970), MT-TC-related
Mitochondrial disease v0.1038 MT-TC Zornitza Stark Classified gene: MT-TC as Amber List (moderate evidence)
Mitochondrial disease v0.1038 MT-TC Zornitza Stark Gene: mt-tc has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1037 MT-TC Zornitza Stark edited their review of gene: MT-TC: Added comment: LIMITED by ClinGen.

There were 3 scoreable probands across >10 publications from 1996-2022. Notably, while cybrid analyses were performed (PMID:36039763), one of the variants, m.5783G>A, was excluded from scoring for three reasons: 1.) the reported phenotype of isolated hearing loss was non-specific and incompletely penetrant, but also 2.) the biochemical impact in cybrids was mild - moderate, and 3.) there was reduction in expression of mitochondrial replication genes (TWNK ~30% of control in cybrids) suggesting an alternative aetiology might be responsible for the biochemical impact reported.

The gene-disease association for MT-TC is also supported by the known interaction with a multitude of other mitochondrial translation proteins (PMID:30030363) and respiratory chain studies and Northern blot analysis supporting MT-TC dysfunction leading to Complex I deficiency (PMID:35252560).; Changed rating: AMBER; Changed publications: 8829635, 9185178, 17241783, 11453453, 16955414, 32169613, 36039763, 17724295, 35252560, 34433719, 30030363; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TC-related
Mitochondrial disease v0.1037 MT-TA Zornitza Stark Phenotypes for gene: MT-TA were changed from Mitochondrial myopathy to Mitochondrial disease (MONDO:0044970), MT-TA-related
Mitochondrial disease v0.1036 MT-TA Zornitza Stark Publications for gene: MT-TA were set to
Mitochondrial disease v0.1035 MT-TA Zornitza Stark edited their review of gene: MT-TA: Added comment: DEFINITIVE by ClinGen.

More than 5 individuals reported. Variable age of onset. Features in affected individuals included myopathy (weakness, exercise intolerance), ptosis, ophthalmoplegia, lipomas, and hearing loss. Muscle biopsies showed ragged red fibers and COX-negative fibers, as well as respiratory chain enzyme deficiencies. Heteroplasmy levels in affected individuals tended to be highest in muscle when multiple tissues were assessed and were variable in other tissues when tested.; Changed publications: 11715067, 17825557, 14569122, 27014581, 20813205, 25873012, 16476954; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-TA-related
Mitochondrial disease v0.1035 MT-RNR1 Zornitza Stark Phenotypes for gene: MT-RNR1 were changed from Deafness; Cardiomyopathy to Mitochondrial disease (MONDO:0044970), MT-RNR1-related
Mitochondrial disease v0.1034 MT-RNR1 Zornitza Stark Publications for gene: MT-RNR1 were set to 20301595
Mitochondrial disease v0.1033 MT-RNR1 Zornitza Stark edited their review of gene: MT-RNR1: Added comment: DEFINITIVE by ClinGen.

Over 70 affected individuals reported. Two variants, m.1555A>G and m.1494C>T, are recurrent.

These variants are predominantly associated with hearing loss. Some individuals with this variants have normal hearing, others have hearing loss following aminoglycoside exposure, and others have hearing loss and no known aminoglycoside exposure. Age of onset of hearing loss ranged from infancy (after aminoglycoside exposure) to adulthood. Hearing loss has been reported to be variable, stable in some individuals and progressive in others.

Additional variants in this gene have been reported to be associated with primary mitochondrial disease, however insufficient clinical detail was provided and/or there was a lack of comprehensive analyses excluding other causes, therefore these additional variants were not included in the ClinGen curation (m.827A>G – PMIDs: 16650816, 16782057, 18261986; m.961delTinsC - PMIDs: 7550368, 10326749; m.1027A>G – PMIDs: 23328039, 21205314, 20100600; m.1095T>C – PMIDs: 11313749, 11079536, 15637703).; Changed publications: 7698299, 16380089, 12920080, 24252789, 9490575, 8285309, 9040738, 7689389; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-RNR1-related
Mitochondrial disease v0.1033 NARS2 Sangavi Sivagnanasundram edited their review of gene: NARS2: Changed phenotypes: Leigh syndrome MONDO:0009723, combined oxidative phosphorylation defect type 24 MONDO:0014547
Mitochondrial disease v0.1033 NARS2 Sangavi Sivagnanasundram changed review comment from: Classified as LIMITED by ClinGen on 19/12/2019 however that was based lack of reported cases at the time of curation.; to: Classified as LIMITED by ClinGen on 19/12/2019 however, that is based on the lack of reported cases at the time of curation.
Mitochondrial disease v0.1033 NARS2 Sangavi Sivagnanasundram reviewed gene: NARS2: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005563; Phenotypes: Leigh syndrome MONDO:0009723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.1033 MT-ND6 Zornitza Stark Phenotypes for gene: MT-ND6 were changed from Mitochondrial cardiomyopathy complex I deficiency; Leber's optic neuropathy; MELAS; Dystonia; Striatal necrosis, bilateral to Mitochondrial disease (MONDO:0044970), MT-ND6-related
Mitochondrial disease v0.1032 MT-ND6 Zornitza Stark Publications for gene: MT-ND6 were set to
Mitochondrial disease v0.1031 MT-ND6 Zornitza Stark edited their review of gene: MT-ND6: Added comment: DEFINITIVE by ClinGen.

More than 20 affected individuals reported, the m.14484T>C and m.14487T>C variants are recurrent.

Affected individuals present with a broad phenotypic spectrum of disease including Leber Hereditary Optic Neuropathy (LHON), mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), and LSS phenotypes, as well as migraines, tremor, multiple sclerosis, and cardiac involvement. The age of onset is also highly variable, ranging from infantile to adult.

Muscle biopsies revealed isolated complex I deficiency, and complex I and III deficiencies; and complex I deficiency was also seen in fibroblasts and liver. Metabolic screening investigations showed elevated lactate and pyruvate in cerebrospinal fluid (CSF) and blood.

Heteroplasmy levels in affected individuals ranged from 50% to >95% in skeletal muscle; 25% to >95% in blood, 76% to >95% in fibroblasts, and 65% to >95% in liver; and ranged in healthy family members from undetectable to 92% in blood, undetectable to 95% in urine, 14% to 95% in hair follicles, 16% to 68% in buccal, and was undetectable in muscle in healthy family members.; Changed publications: 5576045, 20019223, 21196529, 10894222, 14684687, 17535832, 19103152, 21749722, 23813926, 25356405, 14595656, 19062322, 11133798, 30741831, 21364701, 2018041; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-ND6-related
Mitochondrial disease v0.1031 MT-ND5 Zornitza Stark Phenotypes for gene: MT-ND5 were changed from Mitochondrial complex I deficiency; Leber's optic neuropathy; MERFF to Mitochondrial disease (MONDO:0044970), MT-ND5-related
Mitochondrial disease v0.1030 MT-ND5 Zornitza Stark Publications for gene: MT-ND5 were set to
Mitochondrial disease v0.1029 MT-ND5 Zornitza Stark edited their review of gene: MT-ND5: Added comment: DEFINITIVE by ClinGen.

More than 20 individuals reported. Two variants are recurrent (m.13513G>A and m.13094T>C).

Affected individuals present with a broad phenotypic spectrum of disease including Leber Hereditary Optic Neuropathy (LHON); mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS); LSS; myoclonus epilepsy, ragged red fibers (MERRF); and cardiomyopathy. The age of onset is also highly variable, ranging from infantile to adult.

Muscle biopsies variably revealed ragged red fibers, isolated complex I deficiency, and variable combined deficiencies of complexes I, III, and/or IV. Metabolic screening investigations showed elevated lactate in cerebrospinal fluid (CSF) and blood and urinary excretion of Krebs cycle intermediates.

Heteroplasmy levels in affected individuals ranged from 28% - 90% in skeletal muscle, 23% to 77% in blood, undetectable to 90% in fibroblasts, 51% - 81% in urine; and ranged in healthy family members from undetectable to 20% in blood, undetectable to 25% to 95% in hair follicles, undetectable to 4-6% muscle, and ranged from 27%-45% in other tissues such as urine and buccal samples in healthy family members.; Changed publications: 17400793, 11938446, 12624137, 18495510, 23918514, 17535832, 29506874, 23034978, 16816025, 9299505, 18977334; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-ND5-related
Mitochondrial disease v0.1029 MT-ND4L Zornitza Stark Phenotypes for gene: MT-ND4L were changed from Leber's optic atrophy to Mitochondrial disease (MONDO:0044970), MT-ND4L-related
Mitochondrial disease v0.1028 MT-ND4L Zornitza Stark Publications for gene: MT-ND4L were set to
Mitochondrial disease v0.1027 MT-ND4L Zornitza Stark Classified gene: MT-ND4L as Amber List (moderate evidence)
Mitochondrial disease v0.1027 MT-ND4L Zornitza Stark Gene: mt-nd4l has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1026 MT-ND4L Zornitza Stark edited their review of gene: MT-ND4L: Added comment: LIMITED by ClinGen.

Seven probands with m.10063T>C have been reported across five publications, all of whom had LHON. These cases were scored with reduced points by ClinGen given the mild impact this variant has been shown to have on complex I function. While three other missense variants (m.10543A>G, m.10591T>G, m.10680G>A) have been reported, the ClinGen Expert Panel agreed there was only sufficient evidence of pathogenicity for the m.10663T>C variant. Cases with m.10680G>A and m.10543A>G and m.10591T>G were reviewed but excluded from scoring due to a lack of compelling functional evidence to support pathogenicity. The m.10543A>G variant has been modeled in E. coli and showed a very mild reduction in NADH dehydrogenase activity (74% of control), which was not sufficient to be included in scoring.; Changed rating: AMBER; Changed publications: 8680405, 11935318, 17003408, 22879922, 24568867; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-ND4L-related
Mitochondrial disease v0.1026 MT-ND4 Zornitza Stark Phenotypes for gene: MT-ND4 were changed from Mitochondrial complex I deficiency; Leber's optic neuropathy; Dystonia to Mitochondrial disease (MONDO:0044970), MT-ND4-related
Mitochondrial disease v0.1025 MT-ND4 Zornitza Stark Publications for gene: MT-ND4 were set to
Mitochondrial disease v0.1024 MT-ND4 Zornitza Stark commented on gene: MT-ND4: DEFINITIVE by ClinGen.

Multiple individuals reported presenting with a broad phenotypic spectrum of clinical features including Leber Hereditary Optic Neuropathy (LHON); mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS); LSS; cerebellar ataxia, migraines, regression, developmental delay, leukoencephalopathy, myoclonus, seizures, stroke-like episodes, cognitive decline, psychiatric illness, Parkinsonism, axonal neuropathy, multiple sclerosis, ophthalmoplegia, short stature, and hypertrophic cardiomyopathy. Age of onset varied from infancy to adulthood. Muscle biopsy showed COX-negative fibers and complex I deficiency.

Heteroplasmy levels in affected individuals ranged from 60% - 83% in muscle, 40% - 80% in blood, and 76% - 78% in myoblasts, as well as from 57% - 73% in various other tissues (fibroblasts, liver, urine, buccal). Of note, the m.11778G>A common LHON variant was reported in affected individuals in the homoplasmic and heteroplasmic states.
Mitochondrial disease v0.1024 MT-ND4 Zornitza Stark edited their review of gene: MT-ND4: Changed publications: 12707444, 16120329, 15576045, 20502985, 27761019, 32445240, 32659360, 3201231; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-ND4-related
Mitochondrial disease v0.1024 MT-ND3 Zornitza Stark Phenotypes for gene: MT-ND3 were changed from Complex I deficiency to Mitochondrial disease (MONDO:0044970), MT-ND3-related
Mitochondrial disease v0.1023 MT-ND3 Zornitza Stark Publications for gene: MT-ND3 were set to
Mitochondrial disease v0.1022 MT-ND3 Zornitza Stark edited their review of gene: MT-ND3: Added comment: DEFINITIVE by ClinGen.

More than 15 affected individuals reported. Three variants are recurrent (m.10158T>C, m.10191T>C, m.10197G>A). Affected individuals present with a broad phenotypic spectrum of clinical features including LSS; Leber Hereditary Optic Neuropathy (LHON); mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS); lactic acidosis, epilepsia partialis continua (EPC), epileptic encephalopathy, dystonia, and optic atrophy. The age of onset is also highly variable, ranging from infantile to adult. Muscle biopsy showed and complex I deficiency.; Changed publications: 1928099, 14705112, 14764913, 17152068, 20202874, 25118196, 25384404, 11456298, 19458970, 30199507, 29237403; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-ND3-related
Mitochondrial disease v0.1022 MT-ND2 Zornitza Stark Phenotypes for gene: MT-ND2 were changed from Mitochondrial complex I deficiency; Leber's optic neuropathy to Mitochondrial disease (MONDO:0044970), MT-ND2-related
Mitochondrial disease v0.1021 MT-ND2 Zornitza Stark Publications for gene: MT-ND2 were set to
Mitochondrial disease v0.1020 MT-ND2 Zornitza Stark edited their review of gene: MT-ND2: Added comment: MODERATE by ClinGen. Multiple individuals reported. Age of onset in affected individuals ranged from 9 months old to childhood. Clinical features in affected individuals included Leigh syndrome spectrum, myopathy, ophthalmoplegia, and ptosis. Muscle biopsies revealed ragged red fibers and complex I deficiency. Metabolic screening labs showed elevated lactate and creatine kinase (CK). Heteroplasmy levels were >95% in blood, fibroblasts, and muscle in the individual with Leigh syndrome spectrum. However in the other two individuals with predominantly myopathic features, the variant was present at >94% in muscle and undetectable in other tissues tested.; Changed publications: 26258512, 16738010, 15781840, 12192017; Changed phenotypes: Mitochondrial disease (MONDO:0044970), MT-ND2-related
Mitochondrial disease v0.1020 MT-ND1 Zornitza Stark Phenotypes for gene: MT-ND1 were changed from Mitochondrial complex I deficiency; Leber's optic neuropathy; Deafness; Dystonia to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-ND1-related
Mitochondrial disease v0.1019 MT-ND1 Zornitza Stark Publications for gene: MT-ND1 were set to
Mitochondrial disease v0.1018 MT-ND1 Zornitza Stark edited their review of gene: MT-ND1: Added comment: Multiple individuals reported with variants in this gene and a range of phenotypes consistent with mitochondrial disease, including LHON and Leigh syndrome.; Changed publications: 39147111, 36717040, 34656796; Changed phenotypes: Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-ND1-related
Mitochondrial disease v0.1018 MT-CYB Zornitza Stark Phenotypes for gene: MT-CYB were changed from Leber's optic atrophy; Encephalomyopathy; Cardiomyopathy to mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CYB-related
Mitochondrial disease v0.1017 MT-CYB Zornitza Stark changed review comment from: Multiple individuals reported with variants in this gene and a range of clinical phenotypes consistent with mitochondrial disease.; to: Multiple individuals reported with variants in this gene and a range of clinical phenotypes consistent with mitochondrial disease, including Leber's optic atrophy, encephalomyopathy, and cardiomyopathy.
Mitochondrial disease v0.1017 MT-CYB Zornitza Stark Publications for gene: MT-CYB were set to
Mitochondrial disease v0.1016 MT-CYB Zornitza Stark edited their review of gene: MT-CYB: Added comment: Multiple individuals reported with variants in this gene and a range of clinical phenotypes consistent with mitochondrial disease.; Changed publications: 39858655, 34804306, 26937408; Changed phenotypes: mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CYB-related
Mitochondrial disease v0.1016 MT-CO2 Zornitza Stark Phenotypes for gene: MT-CO2 were changed from Cytochrome c oxidase deficiency to Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related
Mitochondrial disease v0.1015 MT-CO2 Zornitza Stark Publications for gene: MT-CO2 were set to
Mitochondrial disease v0.1014 MT-CO2 Zornitza Stark edited their review of gene: MT-CO2: Changed phenotypes: Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related
Mitochondrial disease v0.1014 MT-CO2 Zornitza Stark edited their review of gene: MT-CO2: Added comment: Multiple individuals reported with variants in this gene and a range of neurological and neuromuscular presentations consistent with mitochondrial disease.; Changed publications: 34325999, 30315213, 28521807
Mitochondrial disease v0.1014 MT-CO1 Zornitza Stark Publications for gene: MT-CO1 were set to
Mitochondrial disease v0.1013 MT-CO1 Zornitza Stark edited their review of gene: MT-CO1: Changed publications: 30743023, 39460813, 24956508; Changed phenotypes: Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related
Mitochondrial disease v0.1013 MT-ATP6 Zornitza Stark Phenotypes for gene: MT-ATP6 were changed from Mitochondrial complex V (ATP synthase) deficiency to Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related
Mitochondrial disease v0.1012 MT-ATP6 Zornitza Stark Publications for gene: MT-ATP6 were set to
Mitochondrial disease v0.1011 MT-ATP6 Zornitza Stark edited their review of gene: MT-ATP6: Added comment: Multiple individuals reported with wide spectrum of clinical features including ataxia, motor and language developmental delay, deafness, retinitis pigmentosa, and Leigh pattern in brain MRI.; Changed publications: 40112238
Mitochondrial disease v0.1011 MT-ATP6 Zornitza Stark edited their review of gene: MT-ATP6: Changed phenotypes: Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related
Mitochondrial disease v0.1011 PDHA1 Zornitza Stark Marked gene: PDHA1 as ready
Mitochondrial disease v0.1011 PDHA1 Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.1011 PDHA1 Zornitza Stark Phenotypes for gene: PDHA1 were changed from to Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170
Mitochondrial disease v0.1010 PDHA1 Zornitza Stark Publications for gene: PDHA1 were set to
Mitochondrial disease v0.1009 PDHA1 Zornitza Stark Mode of inheritance for gene: PDHA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disease v0.1008 NNT Bryony Thompson Classified gene: NNT as Green List (high evidence)
Mitochondrial disease v0.1008 NNT Bryony Thompson Added comment: Comment on list classification: Classified as a primary mitochondrial disease by the ClinGen Mitochondrial Diseases GCEP
Mitochondrial disease v0.1008 NNT Bryony Thompson Gene: nnt has been classified as Green List (High Evidence).
Mitochondrial disease v0.1007 QRSL1 Zornitza Stark Phenotypes for gene: QRSL1 were changed from Combined oxidative phosphorylation deficiency 40 to Combined oxidative phosphorylation deficiency 40 MIM#618835
Mitochondrial disease v0.1006 QRSL1 Zornitza Stark edited their review of gene: QRSL1: Changed phenotypes: Combined oxidative phosphorylation deficiency 40 MIM#618835
Mitochondrial disease v0.1006 PTCD1 Zornitza Stark Phenotypes for gene: PTCD1 were changed from Cardiomyopathy to Cardiomyopathy MONDO:0004994, PTCD1-related
Mitochondrial disease v0.1005 PTCD1 Zornitza Stark edited their review of gene: PTCD1: Changed phenotypes: Cardiomyopathy MONDO:0004994, PTCD1-related
Mitochondrial disease v0.1005 PRDX3 Zornitza Stark Deleted their comment
Mitochondrial disease v0.1005 PRDX3 Zornitza Stark Phenotypes for gene: PRDX3 were changed from Cerebellar ataxia (early onset, mild to moderate, progressive) to Cerebellar ataxia MONDO:0000437, PRDX3-related
Mitochondrial disease v0.1004 PRDX3 Zornitza Stark edited their review of gene: PRDX3: Changed phenotypes: Cerebellar ataxia MONDO:0000437, PRDX3-related
Mitochondrial disease v0.1004 MTERF3 Zornitza Stark Marked gene: MTERF3 as ready
Mitochondrial disease v0.1004 MTERF3 Zornitza Stark Gene: mterf3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1004 MTERF3 Zornitza Stark Classified gene: MTERF3 as Amber List (moderate evidence)
Mitochondrial disease v0.1004 MTERF3 Zornitza Stark Gene: mterf3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.1003 MTERF3 Zornitza Stark gene: MTERF3 was added
gene: MTERF3 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: MTERF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTERF3 were set to 40543543
Phenotypes for gene: MTERF3 were set to Mitochondrial disease (MONDO:0044970), MTERF3-related
Review for gene: MTERF3 was set to AMBER
Added comment: Two individuals reported from unrelated families, presenting with DD/ID, intermittent hypoglycaemia and metabolic acidosis. Genetic testing identified compound heterozygous variants c.635dup p.(Asn212Lysfs*7) and c.1055C > T p.(Pro352Leu) in Patient 1, and a homozygous variant c.943A > Gp.(Met315Val) in Patient 2. Patient's fibroblasts and MTERF3 knockdown cells showed impaired mitochondrial respiration and reduced levels of OXPHOS complexes I, III, and IV. Transcription of MT-ND5, ND6, COII, and COIII was reduced, while other mitochondrial genes were upregulated. Wild-type MTERF3 expression restored these defects, but the variant Pro352Leu from patient failed to rescue mitochondrial dysfunction.
Sources: Literature
Mitochondrial disease v0.1002 ATP5A1 Zornitza Stark Phenotypes for gene: ATP5A1 were changed from Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mitochondrial disorder, autosomal dominant to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A (MIM#620358); Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mitochondrial disorder, autosomal dominant
Mitochondrial disease v0.1001 ATP5A1 Zornitza Stark Publications for gene: ATP5A1 were set to 23599390; 34483339
Mitochondrial disease v0.1000 ATP5A1 Zornitza Stark Mode of inheritance for gene: ATP5A1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.999 ATP5A1 Zornitza Stark edited their review of gene: ATP5A1: Changed rating: RED
Mitochondrial disease v0.999 ATP5A1 Zornitza Stark edited their review of gene: ATP5A1: Changed publications: 23599390, 23596069
Mitochondrial disease v0.999 ATP5A1 Zornitza Stark changed review comment from: One family described with each of these mitochondrial conditions.; to: One family described with each of these mitochondrial conditions. Evidence for bi-allelic disease is limited. In one of the families, PMID 23599390, only a paternally inherited variant was identified, maternal variant presumed based on functional studies but not actually identified. In the other family, PMID 23596069, the variant identified is a homozygous missense.
Mitochondrial disease v0.999 ATP5A1 Zornitza Stark Classified gene: ATP5A1 as Green List (high evidence)
Mitochondrial disease v0.999 ATP5A1 Zornitza Stark Gene: atp5a1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.998 ATP5A1 Rylee Peters reviewed gene: ATP5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40672495; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A (MIM#620358); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.998 MT-TT Zornitza Stark Phenotypes for gene: MT-TT were changed from Mitochondrial disease (MONDO:0044970), MT-TT-related to Mitochondrial disease (MONDO:0044970), MT-TT-related
Mitochondrial disease v0.998 MT-TT Zornitza Stark Phenotypes for gene: MT-TT were changed from to Mitochondrial disease (MONDO:0044970), MT-TT-related
Mitochondrial disease v0.997 MT-TT Zornitza Stark Classified gene: MT-TT as Amber List (moderate evidence)
Mitochondrial disease v0.997 MT-TT Zornitza Stark Gene: mt-tt has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.996 MT-TT Chern Lim reviewed gene: MT-TT: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL; Current diagnostic: yes
Mitochondrial disease v0.996 COX18 Zornitza Stark Publications for gene: COX18 were set to PMID:37468577
Mitochondrial disease v0.995 COX18 Zornitza Stark Classified gene: COX18 as Green List (high evidence)
Mitochondrial disease v0.995 COX18 Zornitza Stark Gene: cox18 has been classified as Green List (High Evidence).
Mitochondrial disease v0.994 COX18 Sangavi Sivagnanasundram reviewed gene: COX18: Rating: GREEN; Mode of pathogenicity: None; Publications: 40830826; Phenotypes: Mitochondrial disease (MONDO:0044970), COX18-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.994 TOMM70 Zornitza Stark Phenotypes for gene: TOMM70 were changed from Severe anaemia; Lactic acidosis; Developmental delay to Mitochondrial disease, MONDO:0044970, TOMM70-related
Mitochondrial disease v0.993 TOMM70 Zornitza Stark edited their review of gene: TOMM70: Changed phenotypes: Mitochondrial disease, MONDO:0044970, TOMM70-related
Mitochondrial disease v0.993 FAM136A Zornitza Stark Marked gene: FAM136A as ready
Mitochondrial disease v0.993 FAM136A Zornitza Stark Gene: fam136a has been classified as Red List (Low Evidence).
Mitochondrial disease v0.993 FAM136A Zornitza Stark gene: FAM136A was added
gene: FAM136A was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: FAM136A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FAM136A were set to 40714634
Phenotypes for gene: FAM136A were set to Meniere's disease
Review for gene: FAM136A was set to RED
Added comment: Single family reported with high impact variant, supportive functional data.
Sources: Literature
Mitochondrial disease v0.992 TMEM65 Zornitza Stark Phenotypes for gene: TMEM65 were changed from Mitochondrial disease, MONDO:0044970, TMEM65-related to Mitochondrial disease, MONDO:0044970, TMEM65-related
Mitochondrial disease v0.992 TMEM65 Zornitza Stark Phenotypes for gene: TMEM65 were changed from Mitochondrial encephalomyopathy to Mitochondrial disease, MONDO:0044970, TMEM65-related
Mitochondrial disease v0.991 TMEM65 Zornitza Stark edited their review of gene: TMEM65: Changed phenotypes: Mitochondrial disease, MONDO:0044970, TMEM65-related
Mitochondrial disease v0.991 PNPLA4 Zornitza Stark Phenotypes for gene: PNPLA4 were changed from to Mitochondrial disease (MONDO:0044970), PNPLA4-related
Mitochondrial disease v0.990 PNPLA4 Zornitza Stark edited their review of gene: PNPLA4: Changed phenotypes: Mitochondrial disease (MONDO:0044970), PNPLA4-related
Mitochondrial disease v0.990 TIMM22 Zornitza Stark Phenotypes for gene: TIMM22 were changed from hypotonia; gastroesophageal reflux disease to Mitochondrial disease, MONDO:0044970, TIMM22-related
Mitochondrial disease v0.989 TIMM22 Zornitza Stark edited their review of gene: TIMM22: Changed phenotypes: Mitochondrial disease, MONDO:0044970, TIMM22-related
Mitochondrial disease v0.989 SLIRP Zornitza Stark reviewed gene: SLIRP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Inborn mitochondrial metabolism disorder MONDO:0004069, SLIRP-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.989 PMPCA Zornitza Stark Marked gene: PMPCA as ready
Mitochondrial disease v0.989 PMPCA Zornitza Stark Gene: pmpca has been classified as Green List (High Evidence).
Mitochondrial disease v0.989 PMPCA Zornitza Stark Phenotypes for gene: PMPCA were changed from to Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200
Mitochondrial disease v0.988 PMPCA Zornitza Stark Publications for gene: PMPCA were set to
Mitochondrial disease v0.987 PMPCA Zornitza Stark Mode of inheritance for gene: PMPCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.986 FASTKD5 Zornitza Stark Marked gene: FASTKD5 as ready
Mitochondrial disease v0.986 FASTKD5 Zornitza Stark Gene: fastkd5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.986 FASTKD5 Zornitza Stark Phenotypes for gene: FASTKD5 were changed from Leigh syndrome MONDO:0009723 to Leigh syndrome MONDO:0009723, FASTKD5-related
Mitochondrial disease v0.985 FASTKD5 Chirag Patel Classified gene: FASTKD5 as Green List (high evidence)
Mitochondrial disease v0.985 FASTKD5 Chirag Patel Gene: fastkd5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.984 FASTKD5 Chirag Patel gene: FASTKD5 was added
gene: FASTKD5 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: FASTKD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FASTKD5 were set to PMID: 40499538
Phenotypes for gene: FASTKD5 were set to Leigh syndrome MONDO:0009723
Review for gene: FASTKD5 was set to GREEN
Added comment: 3 unrelated individuals with Leigh syndrome (1 x severe/early-onset/fatal, 1 x milder/childhood-onset, 1 x adult-onset). WES identified compound heterozygous variants in FASTKD5 gene (3 x missense variants, 2 x frameshift variants leading to a premature stop codon). The FASTKD5 gene codes for a mitochondrial protein essential for processing mRNAs at non-canonical cleavage sites in the primary mitochondrial transcript.

Analysis of fibroblasts from two subjects showed reduced steady-state levels of FASTKD5 protein by immunoblot, reduced translation of the cytochrome c oxidase subunit 1, impaired assembly of complex IV, and a consequent decrease in cytochrome c oxidase enzymatic activity. The extent of these deficiencies appeared to correlate with the severity of the clinical phenotype. Expression of a wild-type FASTKD5 cDNA, but not cDNAs expressing the missense variants, rescued all the molecular defects in the subjects' fibroblasts, demonstrating that the alleles are pathogenic. 2/3 missense variants resulted in near complete loss of function, while one was hypomorphic, resulting from impaired protein stability.
Sources: Literature
Mitochondrial disease v0.983 GATB Bryony Thompson Phenotypes for gene: GATB were changed from Mitochondrial cardiomyopathy to inborn mitochondrial metabolism disorder MONDO:0004069
Mitochondrial disease v0.982 GATB Bryony Thompson Publications for gene: GATB were set to 30283131; 38703036
Mitochondrial disease v0.981 GATB Bryony Thompson Publications for gene: GATB were set to 30283131
Mitochondrial disease v0.981 GATB Bryony Thompson Classified gene: GATB as Amber List (moderate evidence)
Mitochondrial disease v0.981 GATB Bryony Thompson Gene: gatb has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.980 GATB Bryony Thompson reviewed gene: GATB: Rating: AMBER; Mode of pathogenicity: None; Publications: 30283131, 38703036; Phenotypes: inborn mitochondrial metabolism disorder MONDO:0004069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.980 LONP1 Zornitza Stark Phenotypes for gene: LONP1 were changed from CODAS syndrome, MIM#600373; Mitochondrial cytopathy to CODAS syndrome, MIM#600373; mitochondrial disease (MONDO:0044970), LONP1-related
Mitochondrial disease v0.979 LONP1 Zornitza Stark Publications for gene: LONP1 were set to 31636596
Mitochondrial disease v0.978 LONP1 Zornitza Stark Mode of inheritance for gene: LONP1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.977 LONP1 Lauren Rogers reviewed gene: LONP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36353900, 31923470; Phenotypes: mitochondrial disease (MONDO:0044970), LONP1-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.977 NSUN3 Zornitza Stark Publications for gene: NSUN3 were set to 27356879; 32488845
Mitochondrial disease v0.976 NSUN3 Zornitza Stark Classified gene: NSUN3 as Green List (high evidence)
Mitochondrial disease v0.976 NSUN3 Zornitza Stark Gene: nsun3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.975 NSUN3 Sangavi Sivagnanasundram reviewed gene: NSUN3: Rating: GREEN; Mode of pathogenicity: None; Publications: 40465263; Phenotypes: combined oxidative phosphorylation deficiency 48 MONDO:0033566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.975 PTPMT1 Zornitza Stark Phenotypes for gene: PTPMT1 were changed from Neurodevelopmental disorder with ataxia and brain abnormalities, MIM# 621199 to Neurodevelopmental disorder with ataxia and brain abnormalities, MIM# 621199
Mitochondrial disease v0.975 PTPMT1 Zornitza Stark Phenotypes for gene: PTPMT1 were changed from inborn mitochondrial metabolism disorder MONDO:0004069 to Neurodevelopmental disorder with ataxia and brain abnormalities, MIM# 621199
Mitochondrial disease v0.974 PTPMT1 Zornitza Stark reviewed gene: PTPMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with ataxia and brain abnormalities, MIM# 621199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.974 MRPL49 Zornitza Stark Phenotypes for gene: MRPL49 were changed from Mitochondrial disease, MONDO:0044970, MRPL49-related to Combined oxidative phosphorylation deficiency 60, MIM# 621195
Mitochondrial disease v0.973 MRPL49 Zornitza Stark edited their review of gene: MRPL49: Changed phenotypes: Combined oxidative phosphorylation deficiency 60, MIM# 621195
Mitochondrial disease v0.973 FXN_FRDA_GAA Bryony Thompson Marked STR: FXN_FRDA_GAA as ready
Mitochondrial disease v0.973 FXN_FRDA_GAA Bryony Thompson Str: fxn_frda_gaa has been classified as Green List (High Evidence).
Mitochondrial disease v0.973 FXN_FRDA_GAA Bryony Thompson Classified STR: FXN_FRDA_GAA as Green List (high evidence)
Mitochondrial disease v0.973 FXN_FRDA_GAA Bryony Thompson Str: fxn_frda_gaa has been classified as Green List (High Evidence).
Mitochondrial disease v0.972 FXN_FRDA_GAA Bryony Thompson STR: FXN_FRDA_GAA was added
STR: FXN_FRDA_GAA was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for STR: FXN_FRDA_GAA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: FXN_FRDA_GAA were set to 20301458; 8596916
Phenotypes for STR: FXN_FRDA_GAA were set to Friedreich ataxia MIM#229300
Review for STR: FXN_FRDA_GAA was set to GREEN
STR: FXN_FRDA_GAA was marked as clinically relevant
STR: FXN_FRDA_GAA was marked as current diagnostic
Added comment: NM_000144.4:c.165+1340GAA[X]
Loss of function is the mechanism of disease
Normal: 5-33 repeats
Mutable normal (premutation): 34-65 repeats
Borderline: 44-66 repeats
Full-penetrance: ≥66 repeats
Sources: Expert list
Mitochondrial disease v0.971 TIMM29 Zornitza Stark Marked gene: TIMM29 as ready
Mitochondrial disease v0.971 TIMM29 Zornitza Stark Gene: timm29 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.971 TIMM29 Zornitza Stark gene: TIMM29 was added
gene: TIMM29 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: TIMM29 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIMM29 were set to 40022150
Phenotypes for gene: TIMM29 were set to Sengers syndrome MONDO:0008922, TIMM29-related
Review for gene: TIMM29 was set to RED
Added comment: One large Arab family presenting with a range of clinical and biochemical phenotypes suggestive of Sengers Syndrome. Biallelic p.Trp172Arg was identified that segregated through the family - this variant is absent from gnomADv4.1 Knockdown drosophillia assay recapitulated the phenotype and pathology observed in the cohort of senger syndrome affected patients.
Sources: Literature
Mitochondrial disease v0.970 RMRP Zornitza Stark Tag non-coding gene tag was added to gene: RMRP.
Mitochondrial disease v0.970 DAP3 Zornitza Stark Phenotypes for gene: DAP3 were changed from Mitochondrial disease MONDO:0044970, DAP3-related to Perrault syndrome 7, MIM# 621101
Mitochondrial disease v0.969 DAP3 Zornitza Stark edited their review of gene: DAP3: Changed phenotypes: Perrault syndrome 7, MIM# 621101
Mitochondrial disease v0.969 PTPMT1 Bryony Thompson Marked gene: PTPMT1 as ready
Mitochondrial disease v0.969 PTPMT1 Bryony Thompson Gene: ptpmt1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.969 PTPMT1 Bryony Thompson Classified gene: PTPMT1 as Green List (high evidence)
Mitochondrial disease v0.969 PTPMT1 Bryony Thompson Gene: ptpmt1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.968 PTPMT1 Bryony Thompson gene: PTPMT1 was added
gene: PTPMT1 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: PTPMT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPMT1 were set to 39279645; 37672386
Phenotypes for gene: PTPMT1 were set to inborn mitochondrial metabolism disorder MONDO:0004069
Review for gene: PTPMT1 was set to GREEN
Added comment: 6 cases from 3 independent families with biallelic variants in PTPMT1 (a mitochondrial tyrosine phosphatase required for de novo cardiolipin biosynthesis). All cases presented with a complex, neonatal/infantile onset neurological and neurodevelopmental syndrome including developmental delay, microcephaly, facial dysmorphism, epilepsy, spasticity, cerebellar ataxia and nystagmus, sensorineural hearing loss, optic atrophy and bulbar dysfunction. Supporting knockout zebrafish and mouse models.
Sources: Literature
Mitochondrial disease v0.967 GUK1 Zornitza Stark Phenotypes for gene: GUK1 were changed from Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related to Mitochondrial DNA depletion syndrome 21, MIM# 621071
Mitochondrial disease v0.966 GUK1 Zornitza Stark reviewed gene: GUK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 21, MIM# 621071; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.966 DAP3 Zornitza Stark Classified gene: DAP3 as Green List (high evidence)
Mitochondrial disease v0.966 DAP3 Zornitza Stark Gene: dap3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.965 DAP3 Zornitza Stark Marked gene: DAP3 as ready
Mitochondrial disease v0.965 DAP3 Zornitza Stark Gene: dap3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.965 DAP3 Zornitza Stark Classified gene: DAP3 as Green List (high evidence)
Mitochondrial disease v0.965 DAP3 Zornitza Stark Gene: dap3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.964 DAP3 Zornitza Stark gene: DAP3 was added
gene: DAP3 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: DAP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAP3 were set to 39701103
Phenotypes for gene: DAP3 were set to Mitochondrial disease MONDO:0044970, DAP3-related
Review for gene: DAP3 was set to GREEN
Added comment: DAP3 encodes the mitoribosomal small subunit 29 (MRPS29).

Five unrelated individuals reported with bi-allelic variants in DAP3 and variable clinical presentations ranging from Perrault syndrome (sensorineural hearing loss and ovarian insufficiency) to an early childhood neurometabolic phenotype. Assessment of respiratory-chain function and proteomic profiling of fibroblasts from affected individuals demonstrated reduced MRPS29 protein amounts and, consequently, decreased levels of additional protein components of the mitoribosomal small subunit, as well as an associated combined deficiency of complexes I and IV. Lentiviral transduction of fibroblasts from affected individuals with wild-type DAP3 cDNA increased DAP3 mRNA expression and partially rescued protein levels of MRPS7, MRPS9, and complex I and IV subunits, demonstrating the pathogenicity of the DAP3 variants.
Sources: Literature
Mitochondrial disease v0.963 MT-TV Zornitza Stark edited their review of gene: MT-TV: Added comment: PMID 39468830: multiplex family with spastic paraplegia and homoplasmic variant, m.1661A > G; Changed publications: 39468830; Changed phenotypes: Ataxia, Seizures, Deafness, Spastic paraplegia
Mitochondrial disease v0.963 PDE12 Zornitza Stark Marked gene: PDE12 as ready
Mitochondrial disease v0.963 PDE12 Zornitza Stark Gene: pde12 has been classified as Green List (High Evidence).
Mitochondrial disease v0.963 PDE12 Zornitza Stark Phenotypes for gene: PDE12 were changed from Mitochondrial disease MONDO:0044970, PDE12-related to Mitochondrial disease MONDO:0044970, PDE12-related
Mitochondrial disease v0.962 PDE12 Zornitza Stark Phenotypes for gene: PDE12 were changed from Mitochondrial disease MONDO:0044970 to Mitochondrial disease MONDO:0044970, PDE12-related
Mitochondrial disease v0.961 PDE12 Zornitza Stark Classified gene: PDE12 as Green List (high evidence)
Mitochondrial disease v0.961 PDE12 Zornitza Stark Gene: pde12 has been classified as Green List (High Evidence).
Mitochondrial disease v0.959 PDE12 Chirag Patel gene: PDE12 was added
gene: PDE12 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: PDE12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE12 were set to PMID: 39567835
Phenotypes for gene: PDE12 were set to Mitochondrial disease MONDO:0044970
Review for gene: PDE12 was set to GREEN
Added comment: 3 families (2 consanguineous) with 5 affected individuals with early onset mitochondrial disease presentation (3 liveborn, 2 intrauterine death).
-Family 1: 1 x infant death @3mths (no clinical information), 1 x 7yr old with neonatal respiratory and lactic acidosis, developmental delay, and mitochondrial respiratory chain deficiencies, and marked cytochrome c oxidase (COX) deficiency in muscle.
-Family 2: 1 x neonatal death @2days with metabolic acidosis and lactic acidosis, respiratory failure, lissencephaly, dysgenesis of the corpus callosum and extensive periventricular and subcortical cysts. Normal pyruvate dehydrogenase complex and electron
transfer chain activities in fibroblasts.
-Family 3: 2 x fetuses (13wks and 22wks) with increase nuchal translucency and reduced fetal movements. One had intra-uterine growth retardation, hydrops and cystic hygroma. The other had permanent flexion contractures of four limbs). Western blotting in fetal skeletal muscle showed absent respiratory chain complexes (I, IV, and V).

WES in all 3 families identified 3 different homozygous missense variants in PDE12 gene (p.Tyr155Cys, p.Gly372Glu, and p.Arg41Pro). All variants segregated with disease, were rare in gnomAD, and in silico pathogenicity prediction tools pointed towards a high likelihood of pathogenicity.

PDE12 gene encodes the poly(A)-specific exoribonuclease, involved in the quality control of mitochondrial non-coding RNAs. Patient-derived primary fibroblasts demonstrate diminished steady-state levels of PDE12 protein, whilst mitochondrial poly(A)-tail RNA sequencing revealed an accumulation of spuriously polyadenylated mitochondrial RNA, consistent with perturbed function of PDE12 protein.
Sources: Literature
Mitochondrial disease v0.959 PDE12 Chirag Patel gene: PDE12 was added
gene: PDE12 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: PDE12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE12 were set to PMID: 39567835
Phenotypes for gene: PDE12 were set to Mitochondrial disease MONDO:0044970
Review for gene: PDE12 was set to GREEN
Added comment: 3 families (2 consanguineous) with 5 affected individuals with early onset mitochondrial disease presentation (3 liveborn, 2 intrauterine death).
-Family 1: 1 x infant death @3mths (no clinical information), 1 x 7yr old with neonatal respiratory and lactic acidosis, developmental delay, and mitochondrial respiratory chain deficiencies, and marked cytochrome c oxidase (COX) deficiency in muscle.
-Family 2: 1 x neonatal death @2days with metabolic acidosis and lactic acidosis, respiratory failure, lissencephaly, dysgenesis of the corpus callosum and extensive periventricular and subcortical cysts. Normal pyruvate dehydrogenase complex and electron
transfer chain activities in fibroblasts.
-Family 3: 2 x fetuses (13wks and 22wks) with increase nuchal translucency and reduced fetal movements. One had intra-uterine growth retardation, hydrops and cystic hygroma. The other had permanent flexion contractures of four limbs). Western blotting in fetal skeletal muscle showed absent respiratory chain complexes (I, IV, and V).

WES in all 3 families identified 3 different homozygous missense variants in PDE12 gene (p.Tyr155Cys, p.Gly372Glu, and p.Arg41Pro). All variants segregated with disease, were rare in gnomAD, and in silico pathogenicity prediction tools pointed towards a high likelihood of pathogenicity.

PDE12 gene encodes the poly(A)-specific exoribonuclease, involved in the quality control of mitochondrial non-coding RNAs. Patient-derived primary fibroblasts demonstrate diminished steady-state levels of PDE12 protein, whilst mitochondrial poly(A)-tail RNA sequencing revealed an accumulation of spuriously polyadenylated mitochondrial RNA, consistent with perturbed function of PDE12 protein.
Sources: Literature
Mitochondrial disease v0.958 CMPK2 Zornitza Stark Classified gene: CMPK2 as Amber List (moderate evidence)
Mitochondrial disease v0.958 CMPK2 Zornitza Stark Gene: cmpk2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.958 CMPK2 Zornitza Stark Marked gene: CMPK2 as ready
Mitochondrial disease v0.958 CMPK2 Zornitza Stark Gene: cmpk2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.958 CMPK2 Zornitza Stark Classified gene: CMPK2 as Amber List (moderate evidence)
Mitochondrial disease v0.958 CMPK2 Zornitza Stark Gene: cmpk2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.957 CMPK2 Zornitza Stark gene: CMPK2 was added
gene: CMPK2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: CMPK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CMPK2 were set to 36443312
Phenotypes for gene: CMPK2 were set to bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related
Review for gene: CMPK2 was set to AMBER
Added comment: Three individuals from two unrelated families reported. One family (two sibs) with homozygous start loss variant, and the other family with compound het variants. Adult-onset neurodegenerative disorder. Extensive functional data including mouse model. Evidence of underlying mitochondrial dysfunction.
Sources: Literature
Mitochondrial disease v0.956 GUK1 Bryony Thompson Marked gene: GUK1 as ready
Mitochondrial disease v0.956 GUK1 Bryony Thompson Gene: guk1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.956 GUK1 Bryony Thompson Classified gene: GUK1 as Green List (high evidence)
Mitochondrial disease v0.956 GUK1 Bryony Thompson Gene: guk1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.956 GUK1 Bryony Thompson Classified gene: GUK1 as Green List (high evidence)
Mitochondrial disease v0.956 GUK1 Bryony Thompson Gene: guk1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.955 GUK1 Bryony Thompson gene: GUK1 was added
gene: GUK1 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: GUK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUK1 were set to 39230499
Phenotypes for gene: GUK1 were set to Mitochondrial DNA depletion syndrome MONDO:0018158, GUK1-related
Review for gene: GUK1 was set to GREEN
Added comment: 4 adult cases from 3 unrelated families with biallelic variants leading to GUK1 deficiency. Cases presented with ptosis, ophthalmoparesis, myopathic proximal limb weakness, variable hepatopathy, and altered T-lymphocyte profiles. Initial manifestations in childhood or adolescence and developed ptosis and skeletal myopathy. mtDNA depletion/deletions are present in muscle biopsies of reduced activities of mitochondrial respiratory chain enzymes in all 4 cases.
Sources: Literature
Mitochondrial disease v0.954 GARS Zornitza Stark Phenotypes for gene: GARS were changed from Spinal muscular atrophy, infantile, James type, MIM# 619042; Charcot-Marie-Tooth disease, type 2D, MIM# 601472; Neuronopathy, distal hereditary motor, type VA, MIM# 600794; Multi-system mitochondrial disorder to Mitochondrial disease (MONDO:0044970), GARS1-related; Spinal muscular atrophy, infantile, James type, MIM# 619042; Charcot-Marie-Tooth disease, type 2D, MIM# 601472; Neuronopathy, distal hereditary motor, type VA, MIM# 600794; Multi-system mitochondrial disorder
Mitochondrial disease v0.953 GARS Chris Ciotta reviewed gene: GARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial disease (MONDO:0044970), GARS1-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.953 TYMP Zornitza Stark Marked gene: TYMP as ready
Mitochondrial disease v0.953 TYMP Zornitza Stark Gene: tymp has been classified as Green List (High Evidence).
Mitochondrial disease v0.953 TYMP Zornitza Stark Phenotypes for gene: TYMP were changed from Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041 to Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041
Mitochondrial disease v0.952 TYMP Zornitza Stark Phenotypes for gene: TYMP were changed from to Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041
Mitochondrial disease v0.951 TYMP Zornitza Stark Publications for gene: TYMP were set to
Mitochondrial disease v0.950 TYMP Zornitza Stark Mode of inheritance for gene: TYMP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.949 ME2 Bryony Thompson Marked gene: ME2 as ready
Mitochondrial disease v0.949 ME2 Bryony Thompson Gene: me2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.949 ME2 Bryony Thompson gene: ME2 was added
gene: ME2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: ME2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ME2 were set to 39401966
Phenotypes for gene: ME2 were set to inborn disorder of energy metabolism MONDO:0019243
Review for gene: ME2 was set to RED
Added comment: A single individual with a homozygous frameshift variant from a consanguineous family. The phenotype included developmental delay, microcephaly, mild brain atrophy, peripheral hypotonia, subtle dysmorphic features, ectopic kidney, and mild lactate elevation. Deletion of yeast ortholog of the gene resulted in growth arrest (which could be rescued).
Sources: Literature
Mitochondrial disease v0.948 MRPL49 Zornitza Stark Marked gene: MRPL49 as ready
Mitochondrial disease v0.948 MRPL49 Zornitza Stark Gene: mrpl49 has been classified as Green List (High Evidence).
Mitochondrial disease v0.948 MRPL49 Zornitza Stark Classified gene: MRPL49 as Green List (high evidence)
Mitochondrial disease v0.948 MRPL49 Zornitza Stark Gene: mrpl49 has been classified as Green List (High Evidence).
Mitochondrial disease v0.947 MRPL49 Zornitza Stark gene: MRPL49 was added
gene: MRPL49 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: MRPL49 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL49 were set to 39417135
Phenotypes for gene: MRPL49 were set to Mitochondrial disease, MONDO:0044970, MRPL49-related
Review for gene: MRPL49 was set to GREEN
Added comment: Five unrelated families with presentations ranging from Perrault syndrome (primary ovarian insufficiency and sensorineural hearing loss) to severe childhood onset of leukodystrophy, learning disability, microcephaly and retinal dystrophy and bi-allelic variants in this gene.
Sources: Literature
Mitochondrial disease v0.946 SLC25A12 Zornitza Stark Phenotypes for gene: SLC25A12 were changed from Developmental and epileptic encephalopathy 39, MIM# 612949 to Developmental and epileptic encephalopathy 39, MIM# 612949
Mitochondrial disease v0.945 SLC25A12 Zornitza Stark Marked gene: SLC25A12 as ready
Mitochondrial disease v0.945 SLC25A12 Zornitza Stark Gene: slc25a12 has been classified as Green List (High Evidence).
Mitochondrial disease v0.945 SLC25A12 Zornitza Stark Phenotypes for gene: SLC25A12 were changed from Developmental and epileptic encephalopathy 39, MIM# 612949 to Developmental and epileptic encephalopathy 39, MIM# 612949
Mitochondrial disease v0.944 SLC25A12 Zornitza Stark Phenotypes for gene: SLC25A12 were changed from to Developmental and epileptic encephalopathy 39, MIM# 612949
Mitochondrial disease v0.943 SLC25A12 Zornitza Stark Publications for gene: SLC25A12 were set to 19641205; 24515575; 35008954; 32700846; 31766059; 31514314
Mitochondrial disease v0.943 SLC25A12 Zornitza Stark Publications for gene: SLC25A12 were set to 19641205; 24515575; 35008954; 32700846; 31766059; 31514314
Mitochondrial disease v0.942 SLC25A12 Zornitza Stark Publications for gene: SLC25A12 were set to
Mitochondrial disease v0.941 SLC25A12 Zornitza Stark Mode of inheritance for gene: SLC25A12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.940 SLC25A12 Zornitza Stark changed review comment from: Developmental and epileptic encephalopathy-39 (DEE39) is an autosomal recessive neurologic syndrome characterized clinically by global developmental delay apparent in early infancy, early-onset seizures, hypotonia with poor motor function, and hypomyelination on brain imaging. Other features include absent speech and inability to walk; spasticity and hyperreflexia has also been reported. Although there is significant hypomyelination on brain imaging, the disorder is not classified as a primary leukodystrophy. The myelination defect most likely stems from primary neuronal dysfunction due to impaired mitochondrial transport activity, reviewed in PMID 35008954.

Multiple families and functional data, including mouse model.; to: Developmental and epileptic encephalopathy-39 (DEE39) is an autosomal recessive neurologic syndrome characterized clinically by global developmental delay apparent in early infancy, early-onset seizures, hypotonia with poor motor function, and hypomyelination on brain imaging. Other features include absent speech and inability to walk; spasticity and hyperreflexia has also been reported. Although there is significant hypomyelination on brain imaging, the disorder is not classified as a primary leukodystrophy. The myelination defect most likely stems from primary neuronal dysfunction due to impaired mitochondrial transport activity, reviewed in PMID 35008954.

Multiple families and functional data, including mouse model.

The SLC25A12 gene encodes aralar, a protein that functions in the transport of aspartate from mitochondria to cytosol in exchange for glutamate. Aralar also plays a role in the transfer of cytosolic reducing equivalents into mitochondria as a member of the malate-aspartate NADH shuttle.
Mitochondrial disease v0.940 PUS1 Zornitza Stark Phenotypes for gene: PUS1 were changed from Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462 to Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462
Mitochondrial disease v0.939 PUS1 Zornitza Stark Marked gene: PUS1 as ready
Mitochondrial disease v0.939 PUS1 Zornitza Stark Gene: pus1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.939 PUS1 Zornitza Stark Phenotypes for gene: PUS1 were changed from to Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462
Mitochondrial disease v0.938 PUS1 Zornitza Stark Publications for gene: PUS1 were set to
Mitochondrial disease v0.937 PUS1 Zornitza Stark Mode of inheritance for gene: PUS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.936 PUS1 Zornitza Stark edited their review of gene: PUS1: Changed phenotypes: Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462
Mitochondrial disease v0.936 CIAO1 Zornitza Stark Marked gene: CIAO1 as ready
Mitochondrial disease v0.936 CIAO1 Zornitza Stark Gene: ciao1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.936 CIAO1 Zornitza Stark Classified gene: CIAO1 as Green List (high evidence)
Mitochondrial disease v0.936 CIAO1 Zornitza Stark Gene: ciao1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.935 CIAO1 Zornitza Stark gene: CIAO1 was added
gene: CIAO1 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: CIAO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CIAO1 were set to 38411040; 38196629
Phenotypes for gene: CIAO1 were set to Multiple mitochondrial dysfunctions syndrome 10, MIM#620960
Review for gene: CIAO1 was set to GREEN
Added comment: PMID:38196629 (note pre-print) describes 4 unrelated patients with core features of progressive muscle weakness, respiratory insufficiency, joint hyperlaxity, ankle tightness, calf pseudohypertrophy, elevated CK, and larning disabilities/difficulties. 2 patients presented with increased iron deposition in the brain. Age of recognition of myopathic symptoms varied from early childhood to adolescence. Muscle biopsy showed variation in fiber size and an increase in internalized nuclei, as well as scattered degenerating/regenerating fibers and a mild to minimal increase in endomysial fibrosis. Electron microscopy revealed morphologically abnormal mitochondria.

PMID: 38411040 reports 2 unrelated patients. Patient 1 was born with microcephaly and borderline hypertonia, and died at 18 months of respiratory failure from bronchiolitis. Patient 2 presented with failure to thrive, a hyperkinetic movement disorder, and autism before deteriorating in late teens with muscle weakness, recurrent pneuomonia with respiratory insufficiency, and eventually death due to multi-organ failure with carnificating pneumonia, septic cardiomyopathy, and intracranial hemorrhages. Immune deficiency was ruled out.

All variants reported were homozygous or compound heterozygous missense variants, with the exception of one large in-frame deletion of exon 7. Cell line studies showed the variants resulted in reduced protein stability and downstream cellular defects which could be rescued by wild-type CIAO1. Electron microscopy of skeletal muscle demonstrated abnormal assembly of mitochondrial respiratory chain complexes.
Sources: Literature
Mitochondrial disease v0.934 FBXL4 Bryony Thompson Marked gene: FBXL4 as ready
Mitochondrial disease v0.934 FBXL4 Bryony Thompson Gene: fbxl4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.934 FBXL4 Bryony Thompson Publications for gene: FBXL4 were set to
Mitochondrial disease v0.933 FBXL4 Bryony Thompson Phenotypes for gene: FBXL4 were changed from to Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471
Mitochondrial disease v0.932 FBXL4 Bryony Thompson Mode of inheritance for gene: FBXL4 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.931 FBXL4 Bryony Thompson Mode of inheritance for gene: FBXL4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.930 MRPL42 Bryony Thompson Marked gene: MRPL42 as ready
Mitochondrial disease v0.930 MRPL42 Bryony Thompson Gene: mrpl42 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.930 MRPL42 Bryony Thompson Classified gene: MRPL42 as Red List (low evidence)
Mitochondrial disease v0.930 MRPL42 Bryony Thompson Gene: mrpl42 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.929 MRPL42 Mark Cleghorn gene: MRPL42 was added
gene: MRPL42 was added to Mitochondrial disease. Sources: Other
Mode of inheritance for gene: MRPL42 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRPL42 were set to complex neurodevelopmental disorder MONDO:0100038
Penetrance for gene: MRPL42 were set to unknown
Review for gene: MRPL42 was set to RED
Added comment: Bjorn Fischer-Zirnsak, Charite Berlin
ESHG presentation 4/6/24, unpublished

++ supportive functional data (on patient-derived cells) presented, but only 1 case

Biallelic MRPL42 LoF with lethal mitochondrial disease

Index case, born to consanguineous parents
Small
Hypotonia
Seizures
Conductive hearing impairment
CV: hypertrophic RV, small VSD
Hepatomegaly
Lactic acidosis

Homozygous MRPL42: c.219+6T>A (spliceAI 0.83 donor loss)
RNASeq and RT-PCR supportive of aberrant splicing resulting in out of frame exon 4 skipping
Sources: Other
Mitochondrial disease v0.929 PNPLA8 Zornitza Stark Phenotypes for gene: PNPLA8 were changed from Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related; Mitochondrial myopathy with lactic acidosis (MIM#251950), AR to Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related; Mitochondrial myopathy with lactic acidosis (MIM#251950), AR
Mitochondrial disease v0.928 PNPLA8 Zornitza Stark Phenotypes for gene: PNPLA8 were changed from Mitochondrial myopathy with lactic acidosis (MIM#251950), AR to Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related; Mitochondrial myopathy with lactic acidosis (MIM#251950), AR
Mitochondrial disease v0.927 SPATA5 Zornitza Stark Marked gene: SPATA5 as ready
Mitochondrial disease v0.927 SPATA5 Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is AFG2A
Mitochondrial disease v0.927 SPATA5 Zornitza Stark Gene: spata5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.927 SPATA5 Zornitza Stark Tag new gene name tag was added to gene: SPATA5.
Mitochondrial disease v0.927 FDXR Zornitza Stark Marked gene: FDXR as ready
Mitochondrial disease v0.927 FDXR Zornitza Stark Gene: fdxr has been classified as Green List (High Evidence).
Mitochondrial disease v0.927 FDXR Zornitza Stark Phenotypes for gene: FDXR were changed from to Auditory neuropathy and optic atrophy, MIM#617717; Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
Mitochondrial disease v0.926 FDXR Zornitza Stark Publications for gene: FDXR were set to
Mitochondrial disease v0.925 FDXR Zornitza Stark Mode of inheritance for gene: FDXR was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.924 FDXR Zornitza Stark Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.923 FDXR Zornitza Stark edited their review of gene: FDXR: Added comment: Multiple reports of individuals with extra-ocular features, including ID and regression; microcephaly. Leigh-like presentation at the severe end of the spectrum.; Changed publications: 30250212, 28965846, 29040572, 33348459, 37046037, 37481223; Changed phenotypes: Auditory neuropathy and optic atrophy, MIM#617717, Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887
Mitochondrial disease v0.923 TMEM126A Bryony Thompson gene: TMEM126A was added
gene: TMEM126A was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: TMEM126A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM126A were set to 29884839; 33879611
Phenotypes for gene: TMEM126A were set to Disorders of complex I subunits and assembly factors; autosomal recessive optic atrophy, OPA7 type MONDO:0013069
Mitochondrial disease v0.923 VCP Bryony Thompson gene: VCP was added
gene: VCP was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VCP were set to 29884839; 35273561; 37678339
Phenotypes for gene: VCP were set to inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000507; Disorders of mitochondrial protein quality control
Mitochondrial disease v0.923 PRKN Bryony Thompson gene: PRKN was added
gene: PRKN was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: PRKN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKN were set to 29884839; 38069350
Phenotypes for gene: PRKN were set to Disorders of mitochondrial protein quality control; Parkinson disease MONDO:0005180
Mitochondrial disease v0.923 HSPA9 Bryony Thompson gene: HSPA9 was added
gene: HSPA9 was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSPA9 were set to 29884839; 21123823; 26598328
Phenotypes for gene: HSPA9 were set to even-plus syndrome MONDO:0014801; Disorders of mitochondrial protein quality control
Mitochondrial disease v0.923 PAM16 Bryony Thompson gene: PAM16 was added
gene: PAM16 was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: PAM16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAM16 were set to 29884839; 24786642; 35385740; 36438081
Phenotypes for gene: PAM16 were set to autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:0013223; Disorders of mitochondrial protein import
Mitochondrial disease v0.923 PTRH2 Bryony Thompson gene: PTRH2 was added
gene: PTRH2 was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTRH2 were set to 29884839; 37239392
Phenotypes for gene: PTRH2 were set to Miscellaneous disorders associated with mitochondrial dysfunction; neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:8000012
Mitochondrial disease v0.923 RMRP Bryony Thompson gene: RMRP was added
gene: RMRP was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RMRP were set to 29884839; 38337186
Phenotypes for gene: RMRP were set to Disorders of ribosomal biogenesis; cartilage-hair hypoplasia MONDO:0009595
Mitochondrial disease v0.923 SDHC Bryony Thompson gene: SDHC was added
gene: SDHC was added to Mitochondrial disease. Sources: Expert Review Red
Mode of inheritance for gene: SDHC was set to Unknown
Publications for gene: SDHC were set to 31469588; 29884839
Phenotypes for gene: SDHC were set to Mitochondrial disease MONDO:0044970
Mitochondrial disease v0.923 GPD1 Bryony Thompson gene: GPD1 was added
gene: GPD1 was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: GPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPD1 were set to 29884839; 35988808; 24549054
Phenotypes for gene: GPD1 were set to Disorders of mitochondrial shuttles and carriers; transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0013771
Mitochondrial disease v0.923 L2HGDH Bryony Thompson gene: L2HGDH was added
gene: L2HGDH was added to Mitochondrial disease. Sources: Expert Review Green
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: L2HGDH were set to 29884839; 37995940
Phenotypes for gene: L2HGDH were set to Disorders of mitochondrial metabolite repair; L-2-hydroxyglutaric aciduria MONDO:0009370
Mitochondrial disease v0.922 SPG7 Zornitza Stark Marked gene: SPG7 as ready
Mitochondrial disease v0.922 SPG7 Zornitza Stark Gene: spg7 has been classified as Green List (High Evidence).
Mitochondrial disease v0.922 SPG7 Zornitza Stark Phenotypes for gene: SPG7 were changed from to Spastic paraplegia 7, autosomal recessive, MIM# 607259; Autosomal dominant optic atrophy, MONDO:0020250
Mitochondrial disease v0.921 SPG7 Zornitza Stark Publications for gene: SPG7 were set to 9635427; 9635427; 16534102; 18799786; 22571692; 34500365; 33598982; 32548275; 24727571
Mitochondrial disease v0.920 SPG7 Zornitza Stark Publications for gene: SPG7 were set to
Mitochondrial disease v0.919 SPG7 Zornitza Stark Mode of inheritance for gene: SPG7 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.918 SPG7 Zornitza Stark edited their review of gene: SPG7: Added comment: Please note PEO can be a feature +/- multiple mito deletions in skeletal muscle. PMID 24727571; Changed publications: 9635427, 9635427, 16534102, 18799786, 22571692, 34500365, 33598982, 32548275, 24727571
Mitochondrial disease v0.918 ACO2 Zornitza Stark Publications for gene: ACO2 were set to 22405087; 25351951; 30689204; 32519519; 25351951
Mitochondrial disease v0.917 ACO2 Zornitza Stark Mode of inheritance for gene: ACO2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial disease v0.916 ACO2 Rylee Peters reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34056600; Phenotypes: Optic atrophy 9, MIM# 616289; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial disease v0.916 NDUFB9 Zornitza Stark Publications for gene: NDUFB9 were set to
Mitochondrial disease v0.915 NDUFB9 Chern Lim reviewed gene: NDUFB9: Rating: AMBER; Mode of pathogenicity: None; Publications: 38129218; Phenotypes: Mitochondrial complex I deficiency, nuclear type 24, MIM#618245; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disease v0.915 OPA3 Bryony Thompson Marked gene: OPA3 as ready
Mitochondrial disease v0.915 OPA3 Bryony Thompson Gene: opa3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.915 OPA3 Bryony Thompson Phenotypes for gene: OPA3 were changed from to 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR; Optic atrophy 3 with cataract (MIM#165300), AD
Mitochondrial disease v0.914 OPA3 Bryony Thompson Publications for gene: OPA3 were set to
Mitochondrial disease v0.913 OPA3 Bryony Thompson Mode of inheritance for gene: OPA3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mitochondrial disease v0.912 COQ4 Zornitza Stark Phenotypes for gene: COQ4 were changed from Coenzyme Q10 deficiency, primary, 7, MIM# 616276 to Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Spastic ataxia 10, autosomal recessive, MIM# 620666
Mitochondrial disease v0.911 COQ4 Zornitza Stark Publications for gene: COQ4 were set to 25658047; 26185144; 33704555
Mitochondrial disease v0.910 COQ4 Zornitza Stark edited their review of gene: COQ4: Added comment: PMIDs 36047608;38014483;38013626: more than 10 families reported with more limited spastic ataxia phenotype, onset from infancy to adulthood.; Changed publications: 25658047, 26185144, 33704555, 36047608, 38014483, 38013626; Changed phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276, Spastic ataxia 10, autosomal recessive, MIM# 620666
Mitochondrial disease v0.910 AFG3L2 Zornitza Stark Marked gene: AFG3L2 as ready
Mitochondrial disease v0.910 AFG3L2 Zornitza Stark Gene: afg3l2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.910 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246); Optic atrophy 12, MIM# 618977 to Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246); Optic atrophy 12, MIM# 618977
Mitochondrial disease v0.909 AFG3L2 Zornitza Stark Phenotypes for gene: AFG3L2 were changed from to Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246); Optic atrophy 12, MIM# 618977
Mitochondrial disease v0.908 AFG3L2 Zornitza Stark Publications for gene: AFG3L2 were set to
Mitochondrial disease v0.907 AFG3L2 Zornitza Stark Mode of inheritance for gene: AFG3L2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.906 RRM1 Zornitza Stark Phenotypes for gene: RRM1 were changed from Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647 to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647
Mitochondrial disease v0.905 RRM1 Zornitza Stark Phenotypes for gene: RRM1 were changed from Multiple mitochondrial DNA deletion syndrome (MONDO:0016797) to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647
Mitochondrial disease v0.904 AMACR Zornitza Stark Marked gene: AMACR as ready
Mitochondrial disease v0.904 AMACR Zornitza Stark Gene: amacr has been classified as Green List (High Evidence).
Mitochondrial disease v0.904 AMACR Zornitza Stark Classified gene: AMACR as Green List (high evidence)
Mitochondrial disease v0.904 AMACR Zornitza Stark Gene: amacr has been classified as Green List (High Evidence).
Mitochondrial disease v0.903 AMACR Zornitza Stark Classified gene: AMACR as Green List (high evidence)
Mitochondrial disease v0.903 AMACR Zornitza Stark Gene: amacr has been classified as Green List (High Evidence).
Mitochondrial disease v0.902 AMACR Zornitza Stark gene: AMACR was added
gene: AMACR was added to Mitochondrial disease. Sources: Expert Review
Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMACR were set to 35641312; 35428665
Phenotypes for gene: AMACR were set to Bile acid synthesis defect, congenital, 4, MIM# 214950; Alpha-methylacyl-CoA racemase deficiency, MIM# 614307
Review for gene: AMACR was set to GREEN
Added comment: Mito disease mimic, repeatedly identified in cohorts of patients undergoing testing for suspected mitochondrial disease.
Sources: Expert Review
Mitochondrial disease v0.901 RANBP2 Zornitza Stark Marked gene: RANBP2 as ready
Mitochondrial disease v0.901 RANBP2 Zornitza Stark Gene: ranbp2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.901 RANBP2 Zornitza Stark Classified gene: RANBP2 as Green List (high evidence)
Mitochondrial disease v0.901 RANBP2 Zornitza Stark Gene: ranbp2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.900 RANBP2 Zornitza Stark gene: RANBP2 was added
gene: RANBP2 was added to Mitochondrial disease. Sources: Expert Review
Mode of inheritance for gene: RANBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RANBP2 were set to {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033
Review for gene: RANBP2 was set to GREEN
Added comment: Not a mitochondrial condition, but significant overlap in clinical presentation, described as Leigh-like previously.
Sources: Expert Review
Mitochondrial disease v0.899 RNF213 Seb Lunke Marked gene: RNF213 as ready
Mitochondrial disease v0.899 RNF213 Seb Lunke Gene: rnf213 has been classified as Green List (High Evidence).
Mitochondrial disease v0.899 RNF213 Seb Lunke Classified gene: RNF213 as Green List (high evidence)
Mitochondrial disease v0.899 RNF213 Seb Lunke Gene: rnf213 has been classified as Green List (High Evidence).
Mitochondrial disease v0.898 RNF213 Seb Lunke Classified gene: RNF213 as Green List (high evidence)
Mitochondrial disease v0.898 RNF213 Seb Lunke Gene: rnf213 has been classified as Green List (High Evidence).
Mitochondrial disease v0.897 RNF213 Seb Lunke gene: RNF213 was added
gene: RNF213 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: RNF213 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF213 were set to 37924258
Phenotypes for gene: RNF213 were set to Moyamoya disease, MONDO:0016820; pediatric arterial ischemic stroke, MONDO:0018585
Review for gene: RNF213 was set to GREEN
Added comment: 14 individuals from 13 unrelated families with (de novo) missensevariants in RNF213 clustering within or around the RING domain. Individuals presented either with early-onset stroke (n=11) or with Leigh syndrome like symptoms (n=3). No genotype-phenotype correlation could be established. Common features included Global Developmental Delay and Seizures, increased serum lactate, ischemic stroke, and carotid/cerebral artery stenosis. Onset of symptoms generally in the first 6 months of life. Moyamoya phenomenon was present in 10/13 individuals.
Sources: Literature
Mitochondrial disease v0.896 MRPL39 Zornitza Stark Phenotypes for gene: MRPL39 were changed from Mitochondrial disease MONDO:0044970 to Combined oxidative phosphorylation deficiency-59 (COXPD59), MIM#620646
Mitochondrial disease v0.895 MRPL39 Zornitza Stark reviewed gene: MRPL39: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency-59 (COXPD59), MIM#620646; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.895 TANGO2 Zornitza Stark Marked gene: TANGO2 as ready
Mitochondrial disease v0.895 TANGO2 Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.895 TANGO2 Zornitza Stark Classified gene: TANGO2 as Green List (high evidence)
Mitochondrial disease v0.895 TANGO2 Zornitza Stark Gene: tango2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.894 TANGO2 Zornitza Stark gene: TANGO2 was added
gene: TANGO2 was added to Mitochondrial disease. Sources: Expert Review
Mode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878
Review for gene: TANGO2 was set to GREEN
Added comment: Large phenotypic overlap with mitochondrial disease.
Sources: Expert Review
Mitochondrial disease v0.893 MECR Zornitza Stark edited their review of gene: MECR: Changed phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282, MONDO:0015003, Optic atrophy 16, MIM# 620629
Mitochondrial disease v0.893 TOMM7 Zornitza Stark Phenotypes for gene: TOMM7 were changed from Inborn mitochondrial disorder MONDO:0004069, TOMM7-related to Garg-Mishra progeroid syndrome, MIM# 620601
Mitochondrial disease v0.892 TOMM7 Zornitza Stark edited their review of gene: TOMM7: Changed phenotypes: Garg-Mishra progeroid syndrome, MIM# 620601
Mitochondrial disease v0.892 MIEF1 Seb Lunke Marked gene: MIEF1 as ready
Mitochondrial disease v0.892 MIEF1 Seb Lunke Gene: mief1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.892 MIEF1 Seb Lunke Classified gene: MIEF1 as Red List (low evidence)
Mitochondrial disease v0.892 MIEF1 Seb Lunke Added comment: Comment on list classification: Two patients but both missense and one with a few too many hets. Functional data not quite strong enough.
Mitochondrial disease v0.892 MIEF1 Seb Lunke Gene: mief1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.892 MIEF1 Seb Lunke Classified gene: MIEF1 as Red List (low evidence)
Mitochondrial disease v0.892 MIEF1 Seb Lunke Added comment: Comment on list classification: Two patients but both missense and one with a few too many hets. Functional data not quite strong enough.
Mitochondrial disease v0.892 MIEF1 Seb Lunke Gene: mief1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.891 MIEF1 Lucy Spencer gene: MIEF1 was added
gene: MIEF1 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: MIEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MIEF1 were set to 33632269
Phenotypes for gene: MIEF1 were set to Optic atrophy 14 (MIM#620550)
Review for gene: MIEF1 was set to AMBER
Added comment: PMID: 33632269
Inherited optic neuropathies cohort from france with nothing found in OPA1, OPA3 and WFS1 or mtDNA. 2 individuals (55 and 47yo) found to have missense variants in MIEF1, p.Arg146Trp has 35 hets 0 homs in gnomad, p.Tyr240Asn is absent. Both have non-syndromic late onset inherited optic neuropathies characterized by initial loss of peripheral visual fields.

Functional studies in HeLa cells- both missense localised to the mitochondria and formed oligomers similar to WT. MIEF1 normally regulates mitochondrial fission dynamics and causes an increase in mitochondrial fusion events, however both missense variants caused a significantly decreased mitochondrial fusion events.
Sources: Literature
Mitochondrial disease v0.891 APOO Zornitza Stark Phenotypes for gene: APOO were changed from Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour to Mitochondrial disease, MONDO:0044970, APOO-related; Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour
Mitochondrial disease v0.890 APOO Zornitza Stark Publications for gene: APOO were set to 32439808
Mitochondrial disease v0.889 APOO Zornitza Stark edited their review of gene: APOO: Changed phenotypes: Mitochondrial disease, MONDO:0044970, APOO-related, Developmental delay, Lactic acidosis, Muscle weakness, Hypotonia, Repetitive infections, Cognitive impairment, Autistic behaviour
Mitochondrial disease v0.889 APOO Karina Sandoval reviewed gene: APOO: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 37649161; Phenotypes: agenesis of the corpus callosum, bilateral congenital cataract, hypothyroidism, severe immune deficiencies; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disease v0.889 PTCD3 Zornitza Stark Publications for gene: PTCD3 were set to 30607703; 19427859
Mitochondrial disease v0.888 PTCD3 Zornitza Stark Classified gene: PTCD3 as Green List (high evidence)
Mitochondrial disease v0.888 PTCD3 Zornitza Stark Gene: ptcd3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.887 PTCD3 Zornitza Stark edited their review of gene: PTCD3: Added comment: Three additional families reported.; Changed rating: GREEN; Changed publications: 36450274
Mitochondrial disease v0.887 MRM2 Zornitza Stark Phenotypes for gene: MRM2 were changed from MELAS-like to Mitochondrial DNA depletion syndrome 17, MIM# 618567
Mitochondrial disease v0.886 MRM2 Zornitza Stark Publications for gene: MRM2 were set to 28973171
Mitochondrial disease v0.885 MRM2 Zornitza Stark Classified gene: MRM2 as Green List (high evidence)
Mitochondrial disease v0.885 MRM2 Zornitza Stark Gene: mrm2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.884 MRM2 Zornitza Stark edited their review of gene: MRM2: Added comment: Two additional families reported.; Changed rating: GREEN; Changed publications: 28973171, 36002240
Mitochondrial disease v0.884 COX5A Zornitza Stark Publications for gene: COX5A were set to 28247525; 35246835
Mitochondrial disease v0.884 COX5A Zornitza Stark Publications for gene: COX5A were set to 28247525
Mitochondrial disease v0.883 COX5A Zornitza Stark Classified gene: COX5A as Amber List (moderate evidence)
Mitochondrial disease v0.883 COX5A Zornitza Stark Gene: cox5a has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.882 COX5A Zornitza Stark edited their review of gene: COX5A: Added comment: Second family reported, albeit hmz missense.; Changed rating: AMBER; Changed publications: 35246835
Mitochondrial disease v0.882 COX18 Elena Savva Classified gene: COX18 as Red List (low evidence)
Mitochondrial disease v0.882 COX18 Elena Savva Gene: cox18 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.882 COX18 Elena Savva Classified gene: COX18 as Red List (low evidence)
Mitochondrial disease v0.882 COX18 Elena Savva Gene: cox18 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.881 COX18 Elena Savva Classified gene: COX18 as Red List (low evidence)
Mitochondrial disease v0.881 COX18 Elena Savva Gene: cox18 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.881 COX18 Elena Savva Classified gene: COX18 as Red List (low evidence)
Mitochondrial disease v0.881 COX18 Elena Savva Gene: cox18 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.881 COX18 Elena Savva Classified gene: COX18 as Red List (low evidence)
Mitochondrial disease v0.881 COX18 Elena Savva Gene: cox18 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.880 COX18 Elena Savva Marked gene: COX18 as ready
Mitochondrial disease v0.880 COX18 Elena Savva Gene: cox18 has been removed from the panel.
Mitochondrial disease v0.880 COX18 Naomi Baker gene: COX18 was added
gene: COX18 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: COX18 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX18 were set to PMID:37468577
Phenotypes for gene: COX18 were set to Mitochondrial disease (MONDO:0044970), COX18-related
Review for gene: COX18 was set to RED
Added comment: Paper reports a single patient with a homozygous COX18 missense variant, with a neonatal form of mitochondrial hypertrophic cardiomyopathy, lactic acidosis, failure to thrive and neurological involvement associated with severe skeletal muscle COX deficiency. Functional studies demonstrated COX deficiency which could be partially rescued with over-expression of COX18.
Sources: Literature
Mitochondrial disease v0.880 PYROXD2 Zornitza Stark Classified gene: PYROXD2 as Red List (low evidence)
Mitochondrial disease v0.880 PYROXD2 Zornitza Stark Gene: pyroxd2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.879 PYROXD2 Zornitza Stark Tag disputed tag was added to gene: PYROXD2.
Mitochondrial disease v0.879 PYROXD2 Zornitza Stark edited their review of gene: PYROXD2: Added comment: Alternative diagnosis identified in proband, downgrade.; Changed rating: RED
Mitochondrial disease v0.879 TEFM Zornitza Stark Phenotypes for gene: TEFM were changed from Combined oxidative phosphorylation deficiency 58, MIM# 620451 to Combined oxidative phosphorylation deficiency 58, MIM# 620451
Mitochondrial disease v0.878 TEFM Zornitza Stark Phenotypes for gene: TEFM were changed from Combined oxidative phosphorylation deficiency 58, MIM# 620451 to Combined oxidative phosphorylation deficiency 58, MIM# 620451
Mitochondrial disease v0.878 TEFM Zornitza Stark Phenotypes for gene: TEFM were changed from Mitochondrial disease (MONDO#0044970), TEFM-related to Combined oxidative phosphorylation deficiency 58, MIM# 620451
Mitochondrial disease v0.877 GCSH Zornitza Stark Marked gene: GCSH as ready
Mitochondrial disease v0.877 GCSH Zornitza Stark Gene: gcsh has been classified as Green List (High Evidence).
Mitochondrial disease v0.877 GCSH Zornitza Stark Classified gene: GCSH as Green List (high evidence)
Mitochondrial disease v0.877 GCSH Zornitza Stark Gene: gcsh has been classified as Green List (High Evidence).
Mitochondrial disease v0.876 GCSH Zornitza Stark gene: GCSH was added
gene: GCSH was added to Mitochondrial disease. Sources: Expert Review
Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCSH were set to 33890291; 36190515
Phenotypes for gene: GCSH were set to Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423
Review for gene: GCSH was set to GREEN
Added comment: 7 unrelated families reported. Phenotype ranges from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy and variable movement problems.
Sources: Expert Review
Mitochondrial disease v0.875 MRPL50 Zornitza Stark Marked gene: MRPL50 as ready
Mitochondrial disease v0.875 MRPL50 Zornitza Stark Gene: mrpl50 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.875 MRPL50 Zornitza Stark Classified gene: MRPL50 as Amber List (moderate evidence)
Mitochondrial disease v0.875 MRPL50 Zornitza Stark Gene: mrpl50 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.874 MRPL50 Anna Ritchie gene: MRPL50 was added
gene: MRPL50 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: MRPL50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL50 were set to PMID: 37148394
Phenotypes for gene: MRPL50 were set to Mitochondrial disease, MONDO: 004470, MRPL50-related
Review for gene: MRPL50 was set to AMBER
Added comment: A homozygous missense variant (c.335T>A; p.Val112Asp) shared by twin sisters presenting with premature ovarian insufficiency, bilateral high-frequency sensorineural hearing loss, kidney and heart dysfunction.
Quantitative proteomics data demonstrated a significant reduction in abundance of MRPL50 protein when compared with controls.
Patient fibroblasts have a mild but significant decrease in the abundance of mitochondrial complex I. This data supports a biochemical phenotype associated with MRPL50 variants.
Knockdown/knockout of mRpL50 in Drosophila, resulted abnormal ovarian development.
Sources: Literature
Mitochondrial disease v0.874 NDUFA13 Zornitza Stark Classified gene: NDUFA13 as Green List (high evidence)
Mitochondrial disease v0.874 NDUFA13 Zornitza Stark Gene: ndufa13 has been classified as Green List (High Evidence).
Mitochondrial disease v0.873 PINK1 Bryony Thompson Marked gene: PINK1 as ready
Mitochondrial disease v0.873 PINK1 Bryony Thompson Gene: pink1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.873 PINK1 Bryony Thompson Phenotypes for gene: PINK1 were changed from to Parkinson disease 6, early onset, MIM# 605909
Mitochondrial disease v0.872 PINK1 Bryony Thompson Publications for gene: PINK1 were set to
Mitochondrial disease v0.871 PINK1 Bryony Thompson Classified gene: PINK1 as Green List (high evidence)
Mitochondrial disease v0.871 PINK1 Bryony Thompson Added comment: Comment on list classification: ICIMD Nosology Group
Disorders of mitochondrial protein quality control
Mitochondrial disease v0.871 PINK1 Bryony Thompson Gene: pink1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.869 PINK1 Bryony Thompson gene: PINK1 was added
gene: PINK1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.868 NDUFA13 Lucy Spencer reviewed gene: NDUFA13: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 28, MIM# 618249; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.868 ATP5O Zornitza Stark Marked gene: ATP5O as ready
Mitochondrial disease v0.868 ATP5O Zornitza Stark Gene: atp5o has been classified as Green List (High Evidence).
Mitochondrial disease v0.868 ATP5O Zornitza Stark Classified gene: ATP5O as Green List (high evidence)
Mitochondrial disease v0.868 ATP5O Zornitza Stark Gene: atp5o has been classified as Green List (High Evidence).
Mitochondrial disease v0.867 ATP5O Zornitza Stark gene: ATP5O was added
gene: ATP5O was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: ATP5O was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP5O were set to 34954817; 35621276
Phenotypes for gene: ATP5O were set to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359
Review for gene: ATP5O was set to GREEN
Added comment: 4 individuals from three unrelated families reported. Onset in infancy. Features included intrauterine growth retardation, hypotonia, neonatal respiratory distress, and global developmental delay, seizures.
Sources: Literature
Mitochondrial disease v0.866 MRPL39 Zornitza Stark Phenotypes for gene: MRPL39 were changed from Mitochondrial disease MONDO:0044970 to Mitochondrial disease MONDO:0044970
Mitochondrial disease v0.866 MRPL39 Zornitza Stark Phenotypes for gene: MRPL39 were changed from Mitochondrial disease MONDO:0044970 to Mitochondrial disease MONDO:0044970
Mitochondrial disease v0.866 MRPL39 Zornitza Stark Marked gene: MRPL39 as ready
Mitochondrial disease v0.866 MRPL39 Zornitza Stark Gene: mrpl39 has been classified as Green List (High Evidence).
Mitochondrial disease v0.866 MRPL39 Zornitza Stark Phenotypes for gene: MRPL39 were changed from Leigh Syndrome MONDO:0009723 to Mitochondrial disease MONDO:0044970
Mitochondrial disease v0.865 MRPL39 Zornitza Stark Classified gene: MRPL39 as Green List (high evidence)
Mitochondrial disease v0.865 MRPL39 Zornitza Stark Gene: mrpl39 has been classified as Green List (High Evidence).
Mitochondrial disease v0.865 MRPL39 Zornitza Stark Classified gene: MRPL39 as Green List (high evidence)
Mitochondrial disease v0.865 MRPL39 Zornitza Stark Gene: mrpl39 has been classified as Green List (High Evidence).
Mitochondrial disease v0.865 MRPL39 Zornitza Stark Classified gene: MRPL39 as Green List (high evidence)
Mitochondrial disease v0.865 MRPL39 Zornitza Stark Gene: mrpl39 has been classified as Green List (High Evidence).
Mitochondrial disease v0.864 MRPL39 Lilian Downie edited their review of gene: MRPL39: Changed phenotypes: Mitochondrial disease MONDO:0044970
Mitochondrial disease v0.864 MRPL39 Lilian Downie gene: MRPL39 was added
gene: MRPL39 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: MRPL39 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPL39 were set to PMID: 37133451
Phenotypes for gene: MRPL39 were set to Leigh Syndrome MONDO:0009723
Review for gene: MRPL39 was set to GREEN
Added comment: 3 unrelated individuals, confirmed variants in trans
Functional studies on patient fibroblasts
Multisystem disease, variable onset
2x infants with a clinical diagnosis of Leigh syndrome (congestive cardiac
failure, increased lactates, seizures, apnea, poor feeding, and global developmental delay, leading
to early death (< 1 year of age))
Adult with hypertrophic cardiomyopathy, lactic acidosis, ADHD
Sources: Literature
Mitochondrial disease v0.864 SLC25A36 Bryony Thompson Marked gene: SLC25A36 as ready
Mitochondrial disease v0.864 SLC25A36 Bryony Thompson Gene: slc25a36 has been classified as Green List (High Evidence).
Mitochondrial disease v0.864 SLC25A36 Bryony Thompson Classified gene: SLC25A36 as Green List (high evidence)
Mitochondrial disease v0.864 SLC25A36 Bryony Thompson Gene: slc25a36 has been classified as Green List (High Evidence).
Mitochondrial disease v0.863 PPCS Bryony Thompson Publications for gene: PPCS were set to 29754768
Mitochondrial disease v0.863 PPCS Bryony Thompson Classified gene: PPCS as Green List (high evidence)
Mitochondrial disease v0.863 PPCS Bryony Thompson Gene: ppcs has been classified as Green List (High Evidence).
Mitochondrial disease v0.862 ATP5E Bryony Thompson Publications for gene: ATP5E were set to 20566710; 27626380; 20026007
Mitochondrial disease v0.861 ATP5E Bryony Thompson Classified gene: ATP5E as Green List (high evidence)
Mitochondrial disease v0.861 ATP5E Bryony Thompson Gene: atp5e has been classified as Green List (High Evidence).
Mitochondrial disease v0.859 ATP5B Zornitza Stark Marked gene: ATP5B as ready
Mitochondrial disease v0.859 ATP5B Zornitza Stark Gene: atp5b has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.859 ATP5B Zornitza Stark Classified gene: ATP5B as Amber List (moderate evidence)
Mitochondrial disease v0.859 ATP5B Zornitza Stark Gene: atp5b has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.858 ATP5B Zornitza Stark gene: ATP5B was added
gene: ATP5B was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: ATP5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP5B were set to 36860166; 36239646
Phenotypes for gene: ATP5B were set to Inherited dystonia, MONDO:0044807, ATP5B-related
Review for gene: ATP5B was set to AMBER
Added comment: PMID 36860166: Two families, clinical presentation with dystonia; incomplete penetrance observed. Some functional data.

ATP5F1B is a subunit of the mitochondrial ATP synthase or complex V of the mitochondrial respiratory chain.

Note also PMID 36239646 reporting de novo variant in identical twins with hypermetabolism.
Sources: Literature
Mitochondrial disease v0.857 TEFM Zornitza Stark Marked gene: TEFM as ready
Mitochondrial disease v0.857 TEFM Zornitza Stark Gene: tefm has been classified as Green List (High Evidence).
Mitochondrial disease v0.857 TEFM Zornitza Stark Classified gene: TEFM as Green List (high evidence)
Mitochondrial disease v0.857 TEFM Zornitza Stark Gene: tefm has been classified as Green List (High Evidence).
Mitochondrial disease v0.856 SLC25A36 Krithika Murali gene: SLC25A36 was added
gene: SLC25A36 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: SLC25A36 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A36 were set to 34971397; 34576089; 31036718
Phenotypes for gene: SLC25A36 were set to Hyperinsulinemic hypoglycemia, familial, 8 - MIM#620211
Review for gene: SLC25A36 was set to GREEN
Added comment: Solute carrier family 25 members 33 (SLC25A33) and 36 (SLC25A36) are the only known mitochondrial pyrimidine nucleotide carriers in humans

PMID: 34971397 Sharoor et al 2022 report 2 siblings with hyperinsulinism, hypoglycemia and hyperammonemia from early infancy with homozygous SLC25A36 c.284 + 3 A > T variant identified through WES. Functional studies support LoF.

PMID: 34576089 report a 12-year-old patient with hypothyroidism, hyperinsulinism, hyperammonemia, chronical obstipation, short stature, along with language and general developmental delay. WES identified SLC25A36 gene homozygous c.803dupT, p.Ser269llefs*35 variant. Functional analysis of mutant SLC25A36 protein in proteoliposomes showed a virtually abolished transport activity. Immunoblotting results suggest that the mutant SLC25A36 protein in the patient undergoes fast degradation. Supplementation with uridine lead to some improvement in clinical course.

PMID: 31036718 deficiencies in SLC25A36 in mouse embryonic stem cells have been associated with mtDNA depletion as well as mitochondrial dysfunction
Sources: Literature
Mitochondrial disease v0.856 TEFM Ee Ming Wong gene: TEFM was added
gene: TEFM was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: TEFM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TEFM were set to 36823193
Phenotypes for gene: TEFM were set to Mitochondrial disease (MONDO#0044970), TEFM-related
Review for gene: TEFM was set to GREEN
gene: TEFM was marked as current diagnostic
Added comment: - Seven TEFM variants (4 missense, 2 fs, 1 in-frame del) in seven individuals across five unrelated families
- Muscle and primary fibroblast from the affected individuals have reduced levels of promoter distal mitochondrial RNA transcripts
- TEFM knockdown in zebrafish embryos resulted in neuromuscular junction abnormalities and abnormal mitochondrial function
Sources: Literature
Mitochondrial disease v0.856 MRPS7 Zornitza Stark Publications for gene: MRPS7 were set to 25556185
Mitochondrial disease v0.855 MRPS7 Zornitza Stark Classified gene: MRPS7 as Amber List (moderate evidence)
Mitochondrial disease v0.855 MRPS7 Zornitza Stark Gene: mrps7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.854 MRPS7 Elena Tucker reviewed gene: MRPS7: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36421788, 25556185; Phenotypes: sensorineural deafness, renal failure, liver failure, primary ovarian insufficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.854 OGDH Zornitza Stark Classified gene: OGDH as Green List (high evidence)
Mitochondrial disease v0.854 OGDH Zornitza Stark Gene: ogdh has been classified as Green List (High Evidence).
Mitochondrial disease v0.853 OGDH Zornitza Stark Classified gene: OGDH as Green List (high evidence)
Mitochondrial disease v0.853 OGDH Zornitza Stark Gene: ogdh has been classified as Green List (High Evidence).
Mitochondrial disease v0.852 OGDH Sarah Pantaleo reviewed gene: OGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 36520152; Phenotypes: Oxoglutarate dehydrogenase deficiency, MIM# 203740; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.852 CRLS1 Zornitza Stark Phenotypes for gene: CRLS1 were changed from Mitochondrial disease MONDO:0044970 CRLS1-related to Combined oxidative phosphorylation deficiency 57, MIM# 620167
Mitochondrial disease v0.851 Zornitza Stark HPO terms changed from to Increased serum lactate, HP:0002151; Abnormality of mitochondrial metabolism, HP:0003287
List of related panels changed from to Increased serum lactate; HP:0002151; Abnormality of mitochondrial metabolism; HP:0003287
Mitochondrial disease v0.850 TIMMDC1 Zornitza Stark Classified gene: TIMMDC1 as Green List (high evidence)
Mitochondrial disease v0.850 TIMMDC1 Zornitza Stark Gene: timmdc1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.849 MPC2 Zornitza Stark Marked gene: MPC2 as ready
Mitochondrial disease v0.849 MPC2 Zornitza Stark Gene: mpc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.849 MPC2 Zornitza Stark Classified gene: MPC2 as Amber List (moderate evidence)
Mitochondrial disease v0.849 MPC2 Zornitza Stark Gene: mpc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.848 TIMMDC1 Paul De Fazio changed review comment from: PMID:36349561 report the same homozygous missense variant p.(Arg137His) was identified in 4 fetuses from 2 families terminated for corpus callosum defects. Autopsies showed global hypotrophy and similar facial dysmorphism with coarse face, microcephaly, and microlissencephaly or gyration delay. All 4 fetuses were diagnosed with complete agenesis of CC. Immunoblot analyses of muscle homogenates revealed a strong reduction in the abundance of the TIMMDC1 protein. There was decreased abundance of complex I subunits in muscle tissue.

PMID:33278652 reported two siblings from a Dutch family presenting in infancy with hypotonia and respiratory insufficiency and a rapidly progressive and fatal disease course. A muscle biopsy demonstrated complex I deficiency in brother 2. Each was compound het for the NMD-predicted variant p.(Arg129*) and the previously reported recurrent deep intronic variant c.596+2146A>G.

In total, 3 variants in 6 families with mitochondrial complex I deficiency have been reported.; to: PMID:36349561 report the same homozygous missense variant p.(Arg137His) was identified in 4 fetuses from 2 families terminated for corpus callosum defects. Autopsies showed global hypotrophy and similar facial dysmorphism with coarse face, microcephaly, and microlissencephaly or gyration delay. All 4 fetuses were diagnosed with complete agenesis of CC. Immunoblot analyses of muscle homogenates revealed a strong reduction in the abundance of the TIMMDC1 protein. There was decreased abundance of complex I subunits in muscle tissue.

PMID:33278652 reported two siblings from a Dutch family presenting in infancy with hypotonia and respiratory insufficiency and a rapidly progressive and fatal disease course. A muscle biopsy demonstrated complex I deficiency in brother 2. Each was compound het for the NMD-predicted variant p.(Arg129*) and the previously reported recurrent deep intronic variant c.596+2146A>G.

In total, 3 variants in 6 families with mitochondrial complex I deficiency have been reported. A deep intronic variant shown to affect splicing is recurrent.
Mitochondrial disease v0.848 TIMMDC1 Paul De Fazio reviewed gene: TIMMDC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36349561, 33278652; Phenotypes: Mitochondrial complex I deficiency, nuclear type 31 MIM#618251; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disease v0.848 MPC2 Naomi Baker gene: MPC2 was added
gene: MPC2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: MPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPC2 were set to 36417180
Phenotypes for gene: MPC2 were set to mitochondrial pyruvate carrier deficiency, MONDO:0013877, MPC2-related
Review for gene: MPC2 was set to AMBER
Added comment: Four patients from two unrelated consanguineous families reported with homozygous variants (missense and stop-loss). Siblings from family 1 were diagnosed prenatally with diffuse subcutaneous oedema, cardiomegaly, corpus callosum agenesis, ventriculomegaly and hypoplasia of the cerebellum. Siblings from family 2 had slightly different presentations, which included anoxo-ischemic encephalopathy, isolated dyspnea, neonatal respiratory distress, neonatal jaundice, hypotonia, visual impairment, microcephaly; both siblings had severe delayed psychomotor development. Immunoblot analysis of protein expression in lysates from patient-derived fibroblasts demonstrated reduced MPC1 and MPC2 protein levels.
Sources: Literature
Mitochondrial disease v0.848 UQCRH Zornitza Stark Classified gene: UQCRH as Amber List (moderate evidence)
Mitochondrial disease v0.848 UQCRH Zornitza Stark Gene: uqcrh has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.847 UQCRH Zornitza Stark Marked gene: UQCRH as ready
Mitochondrial disease v0.847 UQCRH Zornitza Stark Gene: uqcrh has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.847 UQCRH Zornitza Stark Classified gene: UQCRH as Amber List (moderate evidence)
Mitochondrial disease v0.847 UQCRH Zornitza Stark Gene: uqcrh has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.846 UQCRH Chern Lim gene: UQCRH was added
gene: UQCRH was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: UQCRH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UQCRH were set to 34750991
Phenotypes for gene: UQCRH were set to Mitochondrial complex III deficiency, nuclear type 11, MIM#620137
Review for gene: UQCRH was set to AMBER
gene: UQCRH was marked as current diagnostic
Added comment: PMID: 34750991:
- Two affected cousins, presented with recurrent episodes of severe lactic acidosis, hyperammonaemia, hypoglycaemia and encephalopathy.
- Both have a 2.2 kb homozygous deletion of exons 2 and 3 of UQCRH, predicted to culminate in an in-frame deletion exons 2 and 3 of the four-exon UQCRH gene, resulting in a shortened product.
- Mouse model with the equivalent homozygous Uqcrh deletion (Uqcrh-/-) also presented with lactic acidosis and hyperammonaemia, but had a more severe, non-episodic phenotype, resulting in failure to thrive and early death.
- Patient fibroblasts and Uqcrh-/- mouse tissues showed a CIII defect.
- Expression of wild-type UQCRH in patient fibroblasts ameliorates the CIII defect.
Sources: Literature
Mitochondrial disease v0.846 TAMM41 Zornitza Stark Phenotypes for gene: TAMM41 were changed from Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; hypotonia; developmental delay; myopathy; ptosis to Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; hypotonia; developmental delay; myopathy; ptosis
Mitochondrial disease v0.845 TAMM41 Zornitza Stark Phenotypes for gene: TAMM41 were changed from inborn mitochondrial metabolism disorder MONDO:0004069; hypotonia; developmental delay; myopathy; ptosis to Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; hypotonia; developmental delay; myopathy; ptosis
Mitochondrial disease v0.844 TAMM41 Zornitza Stark reviewed gene: TAMM41: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.844 NDUFB7 Zornitza Stark reviewed gene: NDUFB7: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.844 ATP5F1 Zornitza Stark Marked gene: ATP5F1 as ready
Mitochondrial disease v0.844 ATP5F1 Zornitza Stark Gene: atp5f1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.844 ATP5F1 Zornitza Stark gene: ATP5F1 was added
gene: ATP5F1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: ATP5F1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP5F1 were set to 36239646
Phenotypes for gene: ATP5F1 were set to Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-2 (HUMOP2), MIM#620085
Review for gene: ATP5F1 was set to RED
Added comment: Identical twins reported with a de novo missense variant in this gene and hyper metabolism: normal thyroid function, hyperphagia, tachypnea, increased basal temperature, and increased sweating. Biochemical studies demonstrated increased mitochondrial oxygen consumption with inefficient production of ATP in the final steps of oxidative phosphorylation due to an uncoupling defect
Sources: Expert list
Mitochondrial disease v0.843 TOMM7 Bryony Thompson Publications for gene: TOMM7 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100148
Mitochondrial disease v0.842 TOMM7 Zornitza Stark changed review comment from: Second family reported in PMID 36282599: single affected individual with homozygous missense variant; clinical presentation with progeroid features but functional data supports underlying mitochondrial aetiology.; to: Second family reported in PMID 36282599: single affected individual with homozygous missense variant; clinical presentation with progeroid features but functional data supports underlying mitochondrial aetiology.

Maintain Amber rating as the two patients have quite disparate clinical presentations.
Mitochondrial disease v0.842 TOMM7 Zornitza Stark edited their review of gene: TOMM7: Changed rating: AMBER
Mitochondrial disease v0.842 TOMM7 Zornitza Stark edited their review of gene: TOMM7: Added comment: Second family reported in PMID 36282599: single affected individual with homozygous missense variant; clinical presentation with progeroid features but functional data supports underlying mitochondrial aetiology.; Changed rating: GREEN; Changed publications: 36299998, 36282599
Mitochondrial disease v0.842 LETM1 Zornitza Stark Phenotypes for gene: LETM1 were changed from Mitochondrial disease MONDO#0044970, LETM1-related to Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Mitochondrial disease v0.841 LETM1 Zornitza Stark reviewed gene: LETM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.841 ETHE1 Zornitza Stark Tag treatable tag was added to gene: ETHE1.
Mitochondrial disease v0.841 TOMM7 Zornitza Stark Marked gene: TOMM7 as ready
Mitochondrial disease v0.841 TOMM7 Zornitza Stark Gene: tomm7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.841 TOMM7 Zornitza Stark Classified gene: TOMM7 as Amber List (moderate evidence)
Mitochondrial disease v0.841 TOMM7 Zornitza Stark Gene: tomm7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.840 TOMM7 Zornitza Stark gene: TOMM7 was added
gene: TOMM7 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOMM7 were set to DOI:https://doi.org/10.1016/j.xhgg.2022.100148
Phenotypes for gene: TOMM7 were set to Inborn mitochondrial disorder MONDO:0004069, TOMM7-related
Review for gene: TOMM7 was set to AMBER
Added comment: A single case identified with a homozygous variant in TOMM7 (c.73T>C, p.Trp25Arg) that presented with syndromic short stature, skeletal abnormalities, muscle hypotonia, microvesicular liver steatosis, and developmental delay. A mouse model of the missense variant demonstrated a bioenergetic defect and a phenotype of mitochondrial diseases. It also strongly suggested that the variant is hypomorphic because mice homozygous for this variant showed a milder phenotype than those with a homozygous Tomm7 deletion.
Sources: Literature
Mitochondrial disease v0.839 ACAD9 Zornitza Stark Tag treatable tag was added to gene: ACAD9.
Mitochondrial disease v0.839 LETM1 Zornitza Stark Marked gene: LETM1 as ready
Mitochondrial disease v0.839 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.839 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Mitochondrial disease v0.839 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.838 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Mitochondrial disease v0.838 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.837 LETM1 Zornitza Stark Classified gene: LETM1 as Green List (high evidence)
Mitochondrial disease v0.837 LETM1 Zornitza Stark Gene: letm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.836 LETM1 Ee Ming Wong gene: LETM1 was added
gene: LETM1 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: LETM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LETM1 were set to 36055214
Phenotypes for gene: LETM1 were set to Mitochondrial disease MONDO#0044970, LETM1-related
Review for gene: LETM1 was set to GREEN
gene: LETM1 was marked as current diagnostic
Added comment: -18 affected individuals from 11 unrelated families harbouring ultra-rare bi-allelic missense and loss-of-function LETM1 variants
-Most of the affected individuals (14/18, 78%) had an infantile-onset disease manifestation,
and 4/18 (22%) presented first symptoms between the ages of 1.5 and 2 years
-Variant types included missense, frameshift, stop loss, in-frame deletion and splice defect
-From biochemical and morphological studies, bi-allelic LETM1 variants are associated with defective mitochondrial K efflux, swollen mitochondrial matrix structures, and loss of important mitochondrial oxidative phosphorylation protein components
Sources: Literature
Mitochondrial disease v0.836 COQ8A Zornitza Stark Tag treatable tag was added to gene: COQ8A.
Mitochondrial disease v0.836 COQ4 Zornitza Stark Tag treatable tag was added to gene: COQ4.
Mitochondrial disease v0.836 CA5A Zornitza Stark Tag treatable tag was added to gene: CA5A.
Mitochondrial disease v0.836 ACADVL Zornitza Stark Tag treatable tag was added to gene: ACADVL.
Mitochondrial disease v0.836 ETFB Zornitza Stark Tag treatable tag was added to gene: ETFB.
Mitochondrial disease v0.836 ETFA Zornitza Stark Tag treatable tag was added to gene: ETFA.
Mitochondrial disease v0.836 ETFDH Zornitza Stark Tag treatable tag was added to gene: ETFDH.
Mitochondrial disease v0.836 HADHB Zornitza Stark Tag treatable tag was added to gene: HADHB.
Mitochondrial disease v0.836 HADHA Zornitza Stark Tag treatable tag was added to gene: HADHA.
Mitochondrial disease v0.836 ACADM Zornitza Stark Tag acadm was removed from gene: ACADM.
Tag treatable tag was added to gene: ACADM.
Mitochondrial disease v0.836 ACADM Zornitza Stark Tag acadm tag was added to gene: ACADM.
Mitochondrial disease v0.836 HLCS Zornitza Stark Tag treatable tag was added to gene: HLCS.
Mitochondrial disease v0.836 SLC25A20 Zornitza Stark Tag treatable tag was added to gene: SLC25A20.
Mitochondrial disease v0.836 SLC22A5 Zornitza Stark Tag treatable tag was added to gene: SLC22A5.
Mitochondrial disease v0.836 CPT2 Zornitza Stark Tag treatable tag was added to gene: CPT2.
Mitochondrial disease v0.836 CPT1A Zornitza Stark Tag treatable tag was added to gene: CPT1A.
Mitochondrial disease v0.836 HMGCL Zornitza Stark Tag treatable tag was added to gene: HMGCL.
Mitochondrial disease v0.836 ACAT1 Zornitza Stark Tag treatable tag was added to gene: ACAT1.
Mitochondrial disease v0.836 COX11 Zornitza Stark Marked gene: COX11 as ready
Mitochondrial disease v0.836 COX11 Zornitza Stark Gene: cox11 has been classified as Green List (High Evidence).
Mitochondrial disease v0.836 COX11 Zornitza Stark Classified gene: COX11 as Green List (high evidence)
Mitochondrial disease v0.836 COX11 Zornitza Stark Gene: cox11 has been classified as Green List (High Evidence).
Mitochondrial disease v0.835 COX11 Zornitza Stark gene: COX11 was added
gene: COX11 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: COX11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX11 were set to 36030551
Phenotypes for gene: COX11 were set to Mitochondrial disease (MONDO:0044970), COX11-related
Review for gene: COX11 was set to GREEN
Added comment: PMID: 36030551
- Biallelic variants in COX11 associated with infantile-onset mitochondrial encephalopathies in two unrelated consanguineous families, one with homozygous missense variant, another with homozygous frameshift variant.
- Functional studies supported pathogenicity of the missense variant, and showed that mutant COX11 fibroblasts had decreased ATP levels which could be rescued by CoQ10.
- RNA studies suggested the mutant transcript with p.(Val12Glyfs*21) is not degraded by nonsense mediated decay.
Sources: Literature
Mitochondrial disease v0.834 ACADS Zornitza Stark Phenotypes for gene: ACADS were changed from Acyl-CoA dehydrogenase, short-chain, deficiency of MIM#201470 to Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470; MONDO:0008722
Mitochondrial disease v0.833 ACADS Zornitza Stark Classified gene: ACADS as Amber List (moderate evidence)
Mitochondrial disease v0.833 ACADS Zornitza Stark Gene: acads has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.832 ACADS Zornitza Stark reviewed gene: ACADS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470, MONDO:0008722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.832 RMND1 Zornitza Stark Marked gene: RMND1 as ready
Mitochondrial disease v0.832 RMND1 Zornitza Stark Gene: rmnd1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.832 RMND1 Zornitza Stark Phenotypes for gene: RMND1 were changed from to Combined oxidative phosphorylation deficiency 11 MIM#614922
Mitochondrial disease v0.831 RMND1 Zornitza Stark Publications for gene: RMND1 were set to
Mitochondrial disease v0.830 RMND1 Zornitza Stark Mode of inheritance for gene: RMND1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.829 RMND1 Belinda Chong reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18835491, 23022099, 23022098, 25604853, 26395190; Phenotypes: Combined oxidative phosphorylation deficiency 11 MIM#614922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disease v0.829 RRM1 Seb Lunke Marked gene: RRM1 as ready
Mitochondrial disease v0.829 RRM1 Seb Lunke Gene: rrm1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.829 RRM1 Seb Lunke Classified gene: RRM1 as Amber List (moderate evidence)
Mitochondrial disease v0.829 RRM1 Seb Lunke Gene: rrm1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.828 RRM1 Seb Lunke Classified gene: RRM1 as Amber List (moderate evidence)
Mitochondrial disease v0.828 RRM1 Seb Lunke Gene: rrm1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.827 RRM1 Daniel Flanagan gene: RRM1 was added
gene: RRM1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: RRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RRM1 were set to PMID: 35617047
Phenotypes for gene: RRM1 were set to Multiple mitochondrial DNA deletion syndrome (MONDO:0016797)
Review for gene: RRM1 was set to AMBER
Added comment: Homozygous missense were identified in 4 four probands (p.Arg381Cys or p.Arg381His) from three families, who presented with ptosis and ophthalmoplegia, plus other manifestations and multiple mtDNA deletions in muscle. Heterozygous carriers were unaffected. An additional proband was heterozygous for a different RRM1 missense (p.Asn427Lys), another variant not identified.
Sources: Expert list
Mitochondrial disease v0.827 GFM2 Zornitza Stark Marked gene: GFM2 as ready
Mitochondrial disease v0.827 GFM2 Zornitza Stark Gene: gfm2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.827 GFM2 Zornitza Stark Phenotypes for gene: GFM2 were changed from to Combined oxidative phosphorylation deficiency 39, OMIM #618397
Mitochondrial disease v0.826 GFM2 Zornitza Stark Publications for gene: GFM2 were set to 22700954; 26016410; 29075935
Mitochondrial disease v0.825 GFM2 Zornitza Stark Publications for gene: GFM2 were set to
Mitochondrial disease v0.824 GFM2 Zornitza Stark Mode of inheritance for gene: GFM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.823 GFM2 Zornitza Stark Mode of inheritance for gene: GFM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.823 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Mitochondrial disease v0.823 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Classified gene: ATPAF2 as Red List (low evidence)
Mitochondrial disease v0.822 ATPAF2 Chirag Patel Gene: atpaf2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.821 ATPAF2 Chirag Patel reviewed gene: ATPAF2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 14757859; Phenotypes: ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, OMIM# 604273; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.821 GFM2 Chirag Patel reviewed gene: GFM2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22700954, 26016410, 29075935; Phenotypes: Combined oxidative phosphorylation deficiency 39, OMIM #618397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.821 MPC1 Zornitza Stark Marked gene: MPC1 as ready
Mitochondrial disease v0.821 MPC1 Zornitza Stark Gene: mpc1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.821 MPC1 Zornitza Stark Phenotypes for gene: MPC1 were changed from Mitochondrial pyruvate carrier deficiency, MIM# 614741 to Mitochondrial pyruvate carrier deficiency, MIM# 614741
Mitochondrial disease v0.820 MPC1 Zornitza Stark Phenotypes for gene: MPC1 were changed from Mitochondrial pyruvate carrier deficiency, MIM# 614741 to Mitochondrial pyruvate carrier deficiency, MIM# 614741
Mitochondrial disease v0.819 MPC1 Zornitza Stark Phenotypes for gene: MPC1 were changed from to Mitochondrial pyruvate carrier deficiency, MIM# 614741
Mitochondrial disease v0.818 MPC1 Zornitza Stark Publications for gene: MPC1 were set to
Mitochondrial disease v0.817 MPC1 Zornitza Stark Mode of inheritance for gene: MPC1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.816 MPC1 Zornitza Stark Mode of inheritance for gene: MPC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.815 MPC1 Zornitza Stark reviewed gene: MPC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22628558, 34873722; Phenotypes: Mitochondrial pyruvate carrier deficiency, MIM# 614741; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.815 MGME1 Zornitza Stark Marked gene: MGME1 as ready
Mitochondrial disease v0.815 MGME1 Zornitza Stark Gene: mgme1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.815 MGME1 Zornitza Stark Phenotypes for gene: MGME1 were changed from Mitochondrial DNA depletion syndrome 11, MIM# 615084 to Mitochondrial DNA depletion syndrome 11, MIM# 615084
Mitochondrial disease v0.814 MGME1 Zornitza Stark Phenotypes for gene: MGME1 were changed from Mitochondrial DNA depletion syndrome 11, MIM# 615084 to Mitochondrial DNA depletion syndrome 11, MIM# 615084
Mitochondrial disease v0.813 MGME1 Zornitza Stark Phenotypes for gene: MGME1 were changed from to Mitochondrial DNA depletion syndrome 11, MIM# 615084
Mitochondrial disease v0.812 MGME1 Zornitza Stark Publications for gene: MGME1 were set to 23313956; 29572490; 28711739
Mitochondrial disease v0.812 MGME1 Zornitza Stark Publications for gene: MGME1 were set to
Mitochondrial disease v0.811 MGME1 Zornitza Stark Mode of inheritance for gene: MGME1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.811 MGME1 Zornitza Stark Mode of inheritance for gene: MGME1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.810 MGME1 Zornitza Stark reviewed gene: MGME1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23313956, 29572490, 28711739; Phenotypes: Mitochondrial DNA depletion syndrome 11, MIM# 615084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.810 RNASEH1 Zornitza Stark Marked gene: RNASEH1 as ready
Mitochondrial disease v0.810 RNASEH1 Zornitza Stark Gene: rnaseh1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.810 RNASEH1 Zornitza Stark Phenotypes for gene: RNASEH1 were changed from to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479
Mitochondrial disease v0.809 RNASEH1 Zornitza Stark Publications for gene: RNASEH1 were set to 26094573; 31258551
Mitochondrial disease v0.809 RNASEH1 Zornitza Stark Publications for gene: RNASEH1 were set to
Mitochondrial disease v0.808 RNASEH1 Zornitza Stark Mode of inheritance for gene: RNASEH1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.807 MRPS2 Zornitza Stark Publications for gene: MRPS2 were set to 29576219
Mitochondrial disease v0.806 MRPS2 Zornitza Stark commented on gene: MRPS2: PMID 34991560: third family.
Mitochondrial disease v0.806 MRPS2 Zornitza Stark edited their review of gene: MRPS2: Changed publications: 29576219, 34991560
Mitochondrial disease v0.806 MTFMT Zornitza Stark Marked gene: MTFMT as ready
Mitochondrial disease v0.806 MTFMT Zornitza Stark Gene: mtfmt has been classified as Green List (High Evidence).
Mitochondrial disease v0.806 MTFMT Zornitza Stark Phenotypes for gene: MTFMT were changed from to Combined oxidative phosphorylation deficiency 15, MIM# 614947; Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248
Mitochondrial disease v0.805 MTFMT Zornitza Stark Publications for gene: MTFMT were set to
Mitochondrial disease v0.804 MTFMT Zornitza Stark Mode of inheritance for gene: MTFMT was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.803 MTFMT Zornitza Stark Mode of inheritance for gene: MTFMT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.802 MTFMT Zornitza Stark reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: None; Publications: 21907147, 23499752, 24461907, 22499348; Phenotypes: Combined oxidative phosphorylation deficiency 15, MIM# 614947, Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.802 MTO1 Zornitza Stark Marked gene: MTO1 as ready
Mitochondrial disease v0.802 MTO1 Zornitza Stark Gene: mto1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.802 MTO1 Zornitza Stark Phenotypes for gene: MTO1 were changed from to Combined oxidative phosphorylation deficiency 10, OMIM #614702
Mitochondrial disease v0.801 MTO1 Zornitza Stark Publications for gene: MTO1 were set to
Mitochondrial disease v0.800 MTO1 Zornitza Stark Mode of inheritance for gene: MTO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.799 MTO1 Zornitza Stark reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26061759, 29331171, 23929671; Phenotypes: Combined oxidative phosphorylation deficiency 10, OMIM #614702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.799 RNASEH1 Belinda Chong reviewed gene: RNASEH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26094573, 31258551; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.799 FDX2 Zornitza Stark Marked gene: FDX2 as ready
Mitochondrial disease v0.799 FDX2 Zornitza Stark Gene: fdx2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.799 FDX2 Zornitza Stark Phenotypes for gene: FDX2 were changed from to Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, MIM# 251900; inborn mitochondrial myopathy MONDO:0009637
Mitochondrial disease v0.798 FDX2 Zornitza Stark Publications for gene: FDX2 were set to
Mitochondrial disease v0.797 FDX2 Zornitza Stark Mode of inheritance for gene: FDX2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.796 FDX2 Zornitza Stark commented on gene: FDX2: 6 apparently unrelated families with 3 different homozygous variants (c.1A>T; p.Pro144Leu; p.Met4Ile) with a rhabdomyolysis/mitochondrial myopathy phenotype. Molecular investigation of patient cells demonstrates mitochondrial dysfunction. Only 2 families with p.Pro144Leu have been reported with the additional features of optic atrophy and reversible leukoencephalopathy. The phenotype reported in OMIM is mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, but there is limited evidence that optic atrophy and leukoencephalopathy are prominent features of the phenotype.
Mitochondrial disease v0.796 FDX2 Zornitza Stark reviewed gene: FDX2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24281368, 28803783, 30010796, 35079622, 34905296; Phenotypes: Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, MIM# 251900, inborn mitochondrial myopathy MONDO:0009637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.796 FASTKD2 Zornitza Stark Marked gene: FASTKD2 as ready
Mitochondrial disease v0.796 FASTKD2 Zornitza Stark Gene: fastkd2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.796 FASTKD2 Zornitza Stark Phenotypes for gene: FASTKD2 were changed from Combined oxidative phosphorylation deficiency 44, MIM# 618855; FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632 to Combined oxidative phosphorylation deficiency 44, MIM# 618855; FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632
Mitochondrial disease v0.795 FASTKD2 Zornitza Stark Phenotypes for gene: FASTKD2 were changed from to Combined oxidative phosphorylation deficiency 44, MIM# 618855; FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632
Mitochondrial disease v0.794 FASTKD2 Zornitza Stark Publications for gene: FASTKD2 were set to
Mitochondrial disease v0.793 FASTKD2 Zornitza Stark Mode of inheritance for gene: FASTKD2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.792 FASTKD2 Zornitza Stark reviewed gene: FASTKD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18771761, 28499982, 31944455, 34234304; Phenotypes: Combined oxidative phosphorylation deficiency 44, MIM# 618855, FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.792 FARS2 Zornitza Stark Marked gene: FARS2 as ready
Mitochondrial disease v0.792 FARS2 Zornitza Stark Gene: fars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.792 FARS2 Zornitza Stark Phenotypes for gene: FARS2 were changed from to combined oxidative phosphorylation defect type 14 MONDO:0013986; hereditary spastic paraplegia 77 MONDO:0014882
Mitochondrial disease v0.791 FARS2 Zornitza Stark Publications for gene: FARS2 were set to
Mitochondrial disease v0.790 FARS2 Zornitza Stark Mode of inheritance for gene: FARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.789 FARS2 Zornitza Stark reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30250868, 30177229, 29126765, 28043061; Phenotypes: combined oxidative phosphorylation defect type 14 MONDO:0013986, hereditary spastic paraplegia 77 MONDO:0014882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.789 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Mitochondrial disease v0.788 CLPB Zornitza Stark edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835, Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Mitochondrial disease v0.788 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271 to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Mitochondrial disease v0.787 CLPB Zornitza Stark edited their review of gene: CLPB: Changed phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271, Neutropenia, severe congenital, 9, autosomal dominant, MIM# 619813
Mitochondrial disease v0.787 TRMT5 Zornitza Stark Marked gene: TRMT5 as ready
Mitochondrial disease v0.787 TRMT5 Zornitza Stark Gene: trmt5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.787 TRMT5 Zornitza Stark Phenotypes for gene: TRMT5 were changed from to Combined oxidative phosphorylation deficiency 26, MIM# 616539
Mitochondrial disease v0.786 TRMT5 Zornitza Stark Publications for gene: TRMT5 were set to
Mitochondrial disease v0.785 TRMT5 Zornitza Stark Mode of inheritance for gene: TRMT5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.784 TRMT5 Zornitza Stark Mode of inheritance for gene: TRMT5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.783 TRMT5 Zornitza Stark reviewed gene: TRMT5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26189817, 35342985, 35109800, 29021354; Phenotypes: Combined oxidative phosphorylation deficiency 26, MIM# 616539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.783 TRMT10C Zornitza Stark Mode of inheritance for gene: TRMT10C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.782 TRMT10C Zornitza Stark reviewed gene: TRMT10C: Rating: GREEN; Mode of pathogenicity: None; Publications: 27132592, 33886802; Phenotypes: Combined oxidative phosphorylation deficiency 30, MIM# 616974; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.782 TMEM126B Zornitza Stark Marked gene: TMEM126B as ready
Mitochondrial disease v0.782 TMEM126B Zornitza Stark Gene: tmem126b has been classified as Green List (High Evidence).
Mitochondrial disease v0.782 TMEM126B Zornitza Stark Phenotypes for gene: TMEM126B were changed from to Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250
Mitochondrial disease v0.781 TMEM126B Zornitza Stark Publications for gene: TMEM126B were set to
Mitochondrial disease v0.780 TMEM126B Zornitza Stark Mode of inheritance for gene: TMEM126B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.779 TMEM126B Zornitza Stark reviewed gene: TMEM126B: Rating: GREEN; Mode of pathogenicity: None; Publications: 27374774, 27374773; Phenotypes: Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.779 LIG3 Zornitza Stark Phenotypes for gene: LIG3 were changed from gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy to Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780
Mitochondrial disease v0.778 LIG3 Zornitza Stark reviewed gene: LIG3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.778 SLC25A26 Zornitza Stark Marked gene: SLC25A26 as ready
Mitochondrial disease v0.778 SLC25A26 Zornitza Stark Gene: slc25a26 has been classified as Green List (High Evidence).
Mitochondrial disease v0.778 SLC25A26 Zornitza Stark Phenotypes for gene: SLC25A26 were changed from Combined oxidative phosphorylation deficiency 28, MIM# 616794 to Combined oxidative phosphorylation deficiency 28, MIM# 616794
Mitochondrial disease v0.777 SLC25A26 Zornitza Stark Phenotypes for gene: SLC25A26 were changed from to Combined oxidative phosphorylation deficiency 28, MIM# 616794
Mitochondrial disease v0.776 SLC25A26 Zornitza Stark Publications for gene: SLC25A26 were set to
Mitochondrial disease v0.775 SLC25A26 Zornitza Stark Mode of inheritance for gene: SLC25A26 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.774 SLC25A26 Zornitza Stark reviewed gene: SLC25A26: Rating: GREEN; Mode of pathogenicity: None; Publications: 26522469; Phenotypes: Combined oxidative phosphorylation deficiency 28, MIM# 616794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.774 SLC25A3 Zornitza Stark Marked gene: SLC25A3 as ready
Mitochondrial disease v0.774 SLC25A3 Zornitza Stark Gene: slc25a3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.774 SLC25A3 Zornitza Stark Phenotypes for gene: SLC25A3 were changed from to Mitochondrial phosphate carrier deficiency, MIM# 610773
Mitochondrial disease v0.773 SLC25A3 Zornitza Stark Publications for gene: SLC25A3 were set to
Mitochondrial disease v0.772 SLC25A3 Zornitza Stark Mode of inheritance for gene: SLC25A3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.772 SLC25A3 Zornitza Stark Mode of inheritance for gene: SLC25A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.771 SLC25A3 Zornitza Stark reviewed gene: SLC25A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273968, 21763135, 25681081; Phenotypes: Mitochondrial phosphate carrier deficiency, MIM# 610773; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.771 SLC25A4 Zornitza Stark Marked gene: SLC25A4 as ready
Mitochondrial disease v0.771 SLC25A4 Zornitza Stark Gene: slc25a4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.771 SLC25A4 Zornitza Stark Phenotypes for gene: SLC25A4 were changed from to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283
Mitochondrial disease v0.770 SLC25A4 Zornitza Stark Publications for gene: SLC25A4 were set to 30046662; 30013777; 29654543; 28823815
Mitochondrial disease v0.769 SLC25A4 Zornitza Stark Publications for gene: SLC25A4 were set to
Mitochondrial disease v0.768 SLC25A4 Zornitza Stark Mode of inheritance for gene: SLC25A4 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.767 SLC25A4 Zornitza Stark reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30046662, 30013777, 29654543, 28823815; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184, Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2, MIM#609283; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.767 SLC25A42 Zornitza Stark Marked gene: SLC25A42 as ready
Mitochondrial disease v0.767 SLC25A42 Zornitza Stark Gene: slc25a42 has been classified as Green List (High Evidence).
Mitochondrial disease v0.767 SLC25A42 Zornitza Stark Phenotypes for gene: SLC25A42 were changed from to Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416
Mitochondrial disease v0.766 SLC25A42 Zornitza Stark Publications for gene: SLC25A42 were set to
Mitochondrial disease v0.765 SLC25A42 Zornitza Stark Mode of inheritance for gene: SLC25A42 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.764 SLC25A42 Zornitza Stark Mode of inheritance for gene: SLC25A42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.763 SLC25A42 Zornitza Stark Tag founder tag was added to gene: SLC25A42.
Mitochondrial disease v0.763 SLC25A42 Zornitza Stark reviewed gene: SLC25A42: Rating: GREEN; Mode of pathogenicity: None; Publications: 26541337, 29327420, 29923093, 34258143; Phenotypes: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.763 TAMM41 Bryony Thompson Marked gene: TAMM41 as ready
Mitochondrial disease v0.763 TAMM41 Bryony Thompson Gene: tamm41 has been classified as Green List (High Evidence).
Mitochondrial disease v0.763 TAMM41 Bryony Thompson Classified gene: TAMM41 as Green List (high evidence)
Mitochondrial disease v0.763 TAMM41 Bryony Thompson Gene: tamm41 has been classified as Green List (High Evidence).
Mitochondrial disease v0.762 TAMM41 Bryony Thompson gene: TAMM41 was added
gene: TAMM41 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: TAMM41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAMM41 were set to 35321494; 29253589
Phenotypes for gene: TAMM41 were set to inborn mitochondrial metabolism disorder MONDO:0004069; hypotonia; developmental delay; myopathy; ptosis
Review for gene: TAMM41 was set to GREEN
Added comment: Three unrelated individuals with mitochondrial disease that share clinical features, including lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis with biallelic variants. Tissue-specific observations on OXPHOS were identified, cardiolipin levels were unchanged in subject fibroblasts but significantly decreased in the skeletal muscle of affected individuals. The missense variants identified were defective in yeast models. In an in vitro cell model knockdown of TAMM41 resulted in decreased mitochondrial CDP diacylglycerol synthase activity, decreased cardiolipin levels and a decrease in oxygen consumption.
Sources: Literature
Mitochondrial disease v0.761 TK2 Zornitza Stark Marked gene: TK2 as ready
Mitochondrial disease v0.761 TK2 Zornitza Stark Gene: tk2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.761 TK2 Zornitza Stark Phenotypes for gene: TK2 were changed from to Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069
Mitochondrial disease v0.760 TK2 Zornitza Stark Publications for gene: TK2 were set to
Mitochondrial disease v0.759 TK2 Zornitza Stark Mode of inheritance for gene: TK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.758 TK2 Zornitza Stark reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11687801, 12391347, 12873860, 35286480, 35280287, 35094997; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.758 TIMM50 Zornitza Stark Marked gene: TIMM50 as ready
Mitochondrial disease v0.758 TIMM50 Zornitza Stark Gene: timm50 has been classified as Green List (High Evidence).
Mitochondrial disease v0.758 TIMM50 Zornitza Stark Phenotypes for gene: TIMM50 were changed from to 3-methylglutaconic aciduria, type IX, MIM# 617698
Mitochondrial disease v0.757 TIMM50 Zornitza Stark Publications for gene: TIMM50 were set to
Mitochondrial disease v0.756 TIMM50 Zornitza Stark Mode of inheritance for gene: TIMM50 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.755 TIMM50 Zornitza Stark reviewed gene: TIMM50: Rating: GREEN; Mode of pathogenicity: None; Publications: 27573165, 32369862, 30190335, 31058414; Phenotypes: 3-methylglutaconic aciduria, type IX, MIM# 617698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.755 NUBPL Zornitza Stark Marked gene: NUBPL as ready
Mitochondrial disease v0.755 NUBPL Zornitza Stark Gene: nubpl has been classified as Green List (High Evidence).
Mitochondrial disease v0.755 NUBPL Zornitza Stark Publications for gene: NUBPL were set to 20818383; 32518176; 23553477; 31917109; 32518176; 31787496; 30897263; 22826544
Mitochondrial disease v0.754 NUBPL Zornitza Stark Phenotypes for gene: NUBPL were changed from to Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242
Mitochondrial disease v0.753 NUBPL Zornitza Stark Publications for gene: NUBPL were set to
Mitochondrial disease v0.752 NUBPL Zornitza Stark Mode of inheritance for gene: NUBPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.751 TUFM Zornitza Stark Marked gene: TUFM as ready
Mitochondrial disease v0.751 TUFM Zornitza Stark Gene: tufm has been classified as Green List (High Evidence).
Mitochondrial disease v0.751 TUFM Zornitza Stark Phenotypes for gene: TUFM were changed from to Combined oxidative phosphorylation deficiency 4, OMIM #610678; MONDO:0012534
Mitochondrial disease v0.750 TUFM Zornitza Stark Publications for gene: TUFM were set to
Mitochondrial disease v0.749 TUFM Zornitza Stark Mode of inheritance for gene: TUFM was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.748 TUFM Zornitza Stark Mode of inheritance for gene: TUFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.747 TUFM Zornitza Stark reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132884, 26741492, 17160893, 30903008; Phenotypes: Combined oxidative phosphorylation deficiency 4, OMIM #610678, MONDO:0012534; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.747 NUBPL Krithika Murali reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20818383, 32518176, 23553477, 31917109, 32518176, 31787496, 30897263, 22826544; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.747 NDUFV2 Zornitza Stark Publications for gene: NDUFV2 were set to 12754703; 19167255; 26008862
Mitochondrial disease v0.746 NDUFV2 Krithika Murali reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30770271, 33811136, 34405929; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.746 NDUFS6 Zornitza Stark Marked gene: NDUFS6 as ready
Mitochondrial disease v0.746 NDUFS6 Zornitza Stark Gene: ndufs6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.746 NDUFS6 Zornitza Stark Phenotypes for gene: NDUFS6 were changed from to Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232
Mitochondrial disease v0.745 NDUFS6 Zornitza Stark Publications for gene: NDUFS6 were set to
Mitochondrial disease v0.744 NDUFS6 Zornitza Stark Mode of inheritance for gene: NDUFS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.743 NDUFS3 Zornitza Stark Marked gene: NDUFS3 as ready
Mitochondrial disease v0.743 NDUFS3 Zornitza Stark Gene: ndufs3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.743 NDUFS3 Zornitza Stark Phenotypes for gene: NDUFS3 were changed from to Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230
Mitochondrial disease v0.742 NDUFS3 Zornitza Stark Publications for gene: NDUFS3 were set to
Mitochondrial disease v0.741 NDUFS3 Zornitza Stark Mode of inheritance for gene: NDUFS3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.740 NDUFS6 Krithika Murali reviewed gene: NDUFS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15372108, 19259137, 30948790; Phenotypes: Mitochondrial complex I deficiency, nuclear type 9 - MIM#618232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.740 NDUFS2 Zornitza Stark Marked gene: NDUFS2 as ready
Mitochondrial disease v0.740 NDUFS2 Zornitza Stark Gene: ndufs2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.740 NDUFS2 Zornitza Stark Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228
Mitochondrial disease v0.739 NDUFS2 Zornitza Stark Publications for gene: NDUFS2 were set to
Mitochondrial disease v0.738 NDUFS2 Zornitza Stark Mode of inheritance for gene: NDUFS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.737 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226 to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Mitochondrial disease v0.736 NDUFS1 Zornitza Stark Marked gene: NDUFS1 as ready
Mitochondrial disease v0.736 NDUFS1 Zornitza Stark Gene: ndufs1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.736 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226 to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Mitochondrial disease v0.736 NDUFS1 Zornitza Stark Phenotypes for gene: NDUFS1 were changed from to Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226
Mitochondrial disease v0.736 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to 33751534; 24952175; 20382551; 21203893; 20797884; 15824269; 25615419; 11349233; 22399432
Mitochondrial disease v0.735 NDUFS1 Zornitza Stark Publications for gene: NDUFS1 were set to
Mitochondrial disease v0.734 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.734 NDUFS1 Zornitza Stark Mode of inheritance for gene: NDUFS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.733 NDUFS3 Krithika Murali reviewed gene: NDUFS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499348, 30140060, 14729820, 33097395; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.733 NDUFS2 Krithika Murali reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28031252, 31411514, 22036843, 20819849, 11220739, 23266820, 31411514; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.733 NDUFS1 Krithika Murali reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33751534, 24952175, 20382551, 21203893, 20797884, 15824269, 25615419, 11349233, 22399432; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.733 NDUFB8 Zornitza Stark Marked gene: NDUFB8 as ready
Mitochondrial disease v0.733 NDUFB8 Zornitza Stark Gene: ndufb8 has been classified as Green List (High Evidence).
Mitochondrial disease v0.733 NDUFB8 Zornitza Stark Phenotypes for gene: NDUFB8 were changed from to Mitochondrial complex I deficiency, nuclear type 32 - MIM#618252
Mitochondrial disease v0.732 NDUFB8 Zornitza Stark Publications for gene: NDUFB8 were set to
Mitochondrial disease v0.731 NDUFB8 Zornitza Stark Mode of inheritance for gene: NDUFB8 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.731 NDUFB8 Zornitza Stark Mode of inheritance for gene: NDUFB8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.730 NDUFAF4 Zornitza Stark Marked gene: NDUFAF4 as ready
Mitochondrial disease v0.730 NDUFAF4 Zornitza Stark Gene: ndufaf4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.730 NDUFAF4 Zornitza Stark Phenotypes for gene: NDUFAF4 were changed from to Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237
Mitochondrial disease v0.729 NDUFAF4 Zornitza Stark Publications for gene: NDUFAF4 were set to
Mitochondrial disease v0.728 NDUFAF4 Zornitza Stark Mode of inheritance for gene: NDUFAF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.727 NDUFAF3 Zornitza Stark Marked gene: NDUFAF3 as ready
Mitochondrial disease v0.727 NDUFAF3 Zornitza Stark Gene: ndufaf3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.727 NDUFAF3 Zornitza Stark Phenotypes for gene: NDUFAF3 were changed from to Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240
Mitochondrial disease v0.726 NDUFAF3 Zornitza Stark Publications for gene: NDUFAF3 were set to
Mitochondrial disease v0.725 NDUFAF3 Zornitza Stark Mode of inheritance for gene: NDUFAF3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.724 NDUFA2 Zornitza Stark Marked gene: NDUFA2 as ready
Mitochondrial disease v0.724 NDUFA2 Zornitza Stark Gene: ndufa2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.724 NDUFA2 Zornitza Stark Phenotypes for gene: NDUFA2 were changed from to Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235
Mitochondrial disease v0.723 NDUFA2 Zornitza Stark Publications for gene: NDUFA2 were set to
Mitochondrial disease v0.722 NDUFA2 Zornitza Stark Mode of inheritance for gene: NDUFA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.721 NDUFB8 Krithika Murali reviewed gene: NDUFB8: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429571; Phenotypes: Mitochondrial complex I deficiency, nuclear type 32 - MIM#618252; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.721 NDUFAF4 Krithika Murali changed review comment from: 2 unrelated families reported with patient-specific functional evidence provided for each.

PMID: 32949790 - report two siblings with facial dysmorphism and lactic acidosis diagnosed neonatally with subsequent fatal early encephalopathy with apneic episodes, irritability, central hypoventilation, liver involvement and hyperammonemia. Cerebral white matter anomalies reported in one patient and cardiomyopathy in the other. WES identified homozygous nonsense NDUFAF4 variants with absent NDUFAF4 expression in patient fibroblasts. OXPHOS assembly studies demonstrated almost undetectable levels of fully assembled complex I and complex I–containing supercomplexes and an abnormal accumulation of SCIII2IV1 supercomplexes. Morphologically, fibroblasts showed rounder mitochondria and a diminished degree of branching of the mitochondrial network.

PMID: 28853723 - report one patient born at 38 weeks after IOL for IUGR. Presented age 7 months with developmental regression, growth failure and central hypotonia. Brain MRI revealed diffuse bilateral signal alterations in the basal ganglia and thalami and an EEG showed generalized slowing with multifocal spikes consistent with an epileptogenic focus. Homozygous missense NDUFAF4 variants identified. Lentiviral complementation of patient fibroblasts with wild-type NDUFAF4 rescued complex I deficiency and assembly defect; to: 3 unrelated families reported with patient-specific functional evidence provided for each.

PMID: 32949790 - report two siblings with facial dysmorphism and lactic acidosis diagnosed neonatally with subsequent fatal early encephalopathy with apneic episodes, irritability, central hypoventilation, liver involvement and hyperammonemia. Cerebral white matter anomalies reported in one patient and cardiomyopathy in the other. WES identified homozygous nonsense NDUFAF4 variants with absent NDUFAF4 expression in patient fibroblasts. OXPHOS assembly studies demonstrated almost undetectable levels of fully assembled complex I and complex I–containing supercomplexes and an abnormal accumulation of SCIII2IV1 supercomplexes. Morphologically, fibroblasts showed rounder mitochondria and a diminished degree of branching of the mitochondrial network.

PMID: 28853723 - report one patient born at 38 weeks after IOL for IUGR. Presented age 7 months with developmental regression, growth failure and central hypotonia. Brain MRI revealed diffuse bilateral signal alterations in the basal ganglia and thalami and an EEG showed generalized slowing with multifocal spikes consistent with an epileptogenic focus. Homozygous missense NDUFAF4 variants identified. Lentiviral complementation of patient fibroblasts with wild-type NDUFAF4 rescued complex I deficiency and assembly defect.

PMID 18179882 - report multiple affected individuals from one family. Most presented soon after birth with severe metabolic acidosis and high plasma lactate levels. Patients who survived longer were repeatedly admitted because of exacerbation of the acidosis during intercurrent infections. One long-term survivor had profound ID. Seizures occurred in 2 individuals during decompensation episodes. Brain MRI of one patient at 16 months of age revealed severe atrophy of both gray and white matter, with demyelination, most prominent at the anterior aspects of the brain, leaving a cortical ribbon. At the occipito-parietal region there were subventricular cysts, emphasizing the ventricular walls. The cerebellum, basal ganglia, pons, and medulla were severely atrophic
Mitochondrial disease v0.721 NDUFAF4 Krithika Murali reviewed gene: NDUFAF4: Rating: GREEN; Mode of pathogenicity: None; Publications: 32949790, 28853723; Phenotypes: Mitochondrial complex I deficiency, nuclear type 15 - MIM#618237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.721 NDUFAF3 Krithika Murali reviewed gene: NDUFAF3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27986404, 29344937, 19463981; Phenotypes: Mitochondrial complex I deficiency, nuclear type 18 - MIM#618240; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.721 NDUFA2 Krithika Murali reviewed gene: NDUFA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28857146, 32154054, 18513682; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13 - MIM#618235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.721 NDUFAF2 Zornitza Stark Marked gene: NDUFAF2 as ready
Mitochondrial disease v0.721 NDUFAF2 Zornitza Stark Gene: ndufaf2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.721 NDUFAF2 Zornitza Stark Phenotypes for gene: NDUFAF2 were changed from to Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233
Mitochondrial disease v0.720 NDUFAF2 Zornitza Stark Publications for gene: NDUFAF2 were set to
Mitochondrial disease v0.719 NDUFAF2 Zornitza Stark Mode of inheritance for gene: NDUFAF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.718 NDUFAF2 Zornitza Stark reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33528536, 34364746, 16200211, 19384974, 20571988; Phenotypes: Mitochondrial complex I deficiency, nuclear type 10 - MIM#618233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.718 NDUFAF1 Zornitza Stark Phenotypes for gene: NDUFAF1 were changed from Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234 to Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234
Mitochondrial disease v0.718 NDUFAF1 Zornitza Stark Marked gene: NDUFAF1 as ready
Mitochondrial disease v0.718 NDUFAF1 Zornitza Stark Gene: ndufaf1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.718 NDUFAF1 Zornitza Stark Phenotypes for gene: NDUFAF1 were changed from to Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234
Mitochondrial disease v0.717 NDUFAF1 Zornitza Stark Publications for gene: NDUFAF1 were set to
Mitochondrial disease v0.716 NDUFAF1 Zornitza Stark Mode of inheritance for gene: NDUFAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.715 NDUFAF1 Zornitza Stark reviewed gene: NDUFAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17557076, 21931170, 16218961, 24963768, 34975718; Phenotypes: Mitochondrial complex I deficiency, nuclear type 11 - MIM#618234; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.715 NDUFAF2 Krithika Murali reviewed gene: NDUFAF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.715 NDUFAF1 Krithika Murali reviewed gene: NDUFAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.715 NDUFA10 Zornitza Stark Marked gene: NDUFA10 as ready
Mitochondrial disease v0.715 NDUFA10 Zornitza Stark Gene: ndufa10 has been classified as Green List (High Evidence).
Mitochondrial disease v0.715 NDUFA10 Zornitza Stark Phenotypes for gene: NDUFA10 were changed from Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243 to Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243
Mitochondrial disease v0.714 NDUFA10 Zornitza Stark Phenotypes for gene: NDUFA10 were changed from to Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243
Mitochondrial disease v0.713 NDUFA10 Zornitza Stark Publications for gene: NDUFA10 were set to
Mitochondrial disease v0.712 NDUFA10 Zornitza Stark Mode of inheritance for gene: NDUFA10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.711 NDUFA10 Zornitza Stark reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 21150889, 26741492, 28247337; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.711 NDUFA10 Krithika Murali reviewed gene: NDUFA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 21150889; Phenotypes: Mitochondrial complex I deficiency, nuclear type 22 - MIM#618243; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.711 ECHS1 Bryony Thompson Marked gene: ECHS1 as ready
Mitochondrial disease v0.711 ECHS1 Bryony Thompson Gene: echs1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.711 ECHS1 Bryony Thompson Phenotypes for gene: ECHS1 were changed from to Leigh syndrome MONDO:0009723
Mitochondrial disease v0.710 ECHS1 Bryony Thompson Publications for gene: ECHS1 were set to
Mitochondrial disease v0.709 ECHS1 Bryony Thompson Mode of inheritance for gene: ECHS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.708 ECHS1 Bryony Thompson reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26000322, 25393721, 25125611, 28409271, 29575569, 28755360, 26099313; Phenotypes: Leigh syndrome MONDO:0009723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disease v0.708 NARS2 Zornitza Stark Marked gene: NARS2 as ready
Mitochondrial disease v0.708 NARS2 Zornitza Stark Gene: nars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.708 NARS2 Zornitza Stark Phenotypes for gene: NARS2 were changed from to Combined oxidative phosphorylation deficiency 24 - MIM#616239; Deafness, autosomal recessive 94 - MIM#618434
Mitochondrial disease v0.707 NARS2 Zornitza Stark Publications for gene: NARS2 were set to
Mitochondrial disease v0.706 NARS2 Zornitza Stark Mode of inheritance for gene: NARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.705 NARS2 Krithika Murali reviewed gene: NARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25385316, 25807530, 30327238, 28077841; Phenotypes: Combined oxidative phosphorylation deficiency 24 - MIM#616239, ?Deafness, autosomal recessive 94 - MIM#618434; Mode of inheritance: None
Mitochondrial disease v0.705 EARS2 Bryony Thompson Marked gene: EARS2 as ready
Mitochondrial disease v0.705 EARS2 Bryony Thompson Gene: ears2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.705 EARS2 Bryony Thompson Phenotypes for gene: EARS2 were changed from to Leigh syndrome MONDO:0009723; Combined oxidative phosphorylation deficiency 12 MIM#614924; leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971
Mitochondrial disease v0.704 EARS2 Bryony Thompson Publications for gene: EARS2 were set to
Mitochondrial disease v0.703 EARS2 Bryony Thompson Mode of inheritance for gene: EARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.702 EARS2 Bryony Thompson reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22492562, 23008233, 25854774, 26619324, 26893310, 27206875, 27571996, 27117034; Phenotypes: Leigh syndrome MONDO:0009723, Combined oxidative phosphorylation deficiency 12 MIM#614924, leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disease v0.702 CRLS1 Zornitza Stark Marked gene: CRLS1 as ready
Mitochondrial disease v0.702 CRLS1 Zornitza Stark Gene: crls1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.702 CRLS1 Zornitza Stark Classified gene: CRLS1 as Green List (high evidence)
Mitochondrial disease v0.702 CRLS1 Zornitza Stark Gene: crls1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.701 CRLS1 Michelle Torres gene: CRLS1 was added
gene: CRLS1 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: CRLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRLS1 were set to 35147173
Phenotypes for gene: CRLS1 were set to Mitochondrial disease MONDO:0044970 CRLS1-related
Added comment: - Three families (4 individuals) with cardiolipin deficiency.
- Two families (one consanguineous with 2 affected siblings) with homozygous the p.(Ile109Asn) had infantile progressive encephalopathy, bull’s eye maculopathy, auditory neuropathy, diabetes insipidus, autonomic instability, cardiac defects and early death.
- The fourth individual cHet p.(Ala172Asp) and p.(Leu217Phe) presented with chronic encephalopathy with neurodevelopmental regression, congenital nystagmus with decreased vision, sensorineural hearing loss, failure to thrive and acquired microcephaly.
- Functional studies on patient cells showed increased levels of the substrate of CRLS1 and impaired mitochondrial morphology and biogenesis
Sources: Literature
Mitochondrial disease v0.701 TFAM Zornitza Stark Publications for gene: TFAM were set to 27448789; 29021295; 9500544; 32399598; 34647195; 34647195
Mitochondrial disease v0.700 TFAM Zornitza Stark Publications for gene: TFAM were set to 27448789; 29021295; 9500544
Mitochondrial disease v0.699 TFAM Zornitza Stark Classified gene: TFAM as Green List (high evidence)
Mitochondrial disease v0.699 TFAM Zornitza Stark Gene: tfam has been classified as Green List (High Evidence).
Mitochondrial disease v0.699 TFAM Zornitza Stark Classified gene: TFAM as Green List (high evidence)
Mitochondrial disease v0.699 TFAM Zornitza Stark Gene: tfam has been classified as Green List (High Evidence).
Mitochondrial disease v0.698 TFAM Zornitza Stark reviewed gene: TFAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 32399598, 34647195, 34647195; Phenotypes: Perrault syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.698 NDUFA11 Zornitza Stark Marked gene: NDUFA11 as ready
Mitochondrial disease v0.698 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.698 NDUFA11 Zornitza Stark Phenotypes for gene: NDUFA11 were changed from to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236
Mitochondrial disease v0.697 NDUFA11 Zornitza Stark Publications for gene: NDUFA11 were set to
Mitochondrial disease v0.696 NDUFA11 Zornitza Stark Mode of inheritance for gene: NDUFA11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.695 NDUFA11 Zornitza Stark Classified gene: NDUFA11 as Amber List (moderate evidence)
Mitochondrial disease v0.695 NDUFA11 Zornitza Stark Gene: ndufa11 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.694 NDUFA11 Zornitza Stark reviewed gene: NDUFA11: Rating: AMBER; Mode of pathogenicity: None; Publications: 18306244, 31074871; Phenotypes: Mitochondrial complex I deficiency, nuclear type 14, MIM#618236; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.694 KIAA0391 Zornitza Stark Tag new gene name tag was added to gene: KIAA0391.
Mitochondrial disease v0.694 KIAA0391 Zornitza Stark Phenotypes for gene: KIAA0391 were changed from Hearing loss, intellectual disability; Mitochondrial disorder to Combined oxidative phosphorylation deficiency 54, MIM# 619737
Mitochondrial disease v0.693 KIAA0391 Zornitza Stark edited their review of gene: KIAA0391: Changed phenotypes: Combined oxidative phosphorylation deficiency 54, MIM# 619737
Mitochondrial disease v0.693 POLRMT Zornitza Stark Phenotypes for gene: POLRMT were changed from Mitochondrial disorder; intellectual disability; hypotonia to Combined oxidative phosphorylation deficiency 55, MIM# 619743; intellectual disability; hypotonia
Mitochondrial disease v0.692 POLRMT Zornitza Stark edited their review of gene: POLRMT: Changed phenotypes: Combined oxidative phosphorylation deficiency 55, MIM# 619743, intellectual disability, hypotonia
Mitochondrial disease v0.692 PYROXD2 Zornitza Stark Classified gene: PYROXD2 as Amber List (moderate evidence)
Mitochondrial disease v0.692 PYROXD2 Zornitza Stark Gene: pyroxd2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.691 PYROXD2 Zornitza Stark Classified gene: PYROXD2 as Amber List (moderate evidence)
Mitochondrial disease v0.691 PYROXD2 Zornitza Stark Gene: pyroxd2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.690 PYROXD2 Zornitza Stark Classified gene: PYROXD2 as Amber List (moderate evidence)
Mitochondrial disease v0.690 PYROXD2 Zornitza Stark Gene: pyroxd2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.689 PYROXD2 Zornitza Stark Marked gene: PYROXD2 as ready
Mitochondrial disease v0.689 PYROXD2 Zornitza Stark Gene: pyroxd2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.689 PYROXD2 Zornitza Stark gene: PYROXD2 was added
gene: PYROXD2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: PYROXD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYROXD2 were set to 35055180
Phenotypes for gene: PYROXD2 were set to Mitochondrial disease, MONDO:0044970
Review for gene: PYROXD2 was set to AMBER
Added comment: Single individual reported, functional data.
Sources: Literature
Mitochondrial disease v0.688 ATP5E Ain Roesley reviewed gene: ATP5E: Rating: GREEN; Mode of pathogenicity: None; Publications: 34954817; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disease v0.688 UQCRC2 Zornitza Stark Publications for gene: UQCRC2 were set to 28275242; 23281071
Mitochondrial disease v0.687 UQCRC2 Zornitza Stark Mode of inheritance for gene: UQCRC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.686 UQCRC2 Zornitza Stark Classified gene: UQCRC2 as Green List (high evidence)
Mitochondrial disease v0.686 UQCRC2 Zornitza Stark Gene: uqcrc2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.685 UQCRC2 John Christodoulou reviewed gene: UQCRC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33865955; Phenotypes: motor delay, developmental delay, symmetric necrotic lesions in the brain stem suggesting Leigh-like syndrome, strabismus, cerebellar signs, lactic academia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.685 ATP5A1 Naomi Baker edited their review of gene: ATP5A1: Added comment: PMID: 34954817 reports three individuals with de novo monoallelic missense variants. One of these is the recurrent p.(Arg207His) variant while the other two variants are different substitutions. The three patients presented with a variable phenotypes: (1) a 14-year-old girl who presented during the first few months of life with developmental delay, failure-to-thrive, and lactic acidosis. She recovered and had no persistent neurologic phenotype; (2) a 17-year-old boy with psychomotor delay, intellectual disability, ataxia, spastic paraparesis, and dystonia; (3) a 12-year-old girl with psychomotor retardation, spastic tetraparesis, generalized dystonia, absent speech, swallowing problems, and increased blood lactate concentrations. Enzymatic investigations of muscle tissue from patient 1 showed a decrease in ATPase activity.; Changed publications: PMID: 34954817
Mitochondrial disease v0.685 OGDH Zornitza Stark Phenotypes for gene: OGDH were changed from Developmental delay; ataxia; seizure; raised lactate to Oxoglutarate dehydrogenase deficiency, MIM# 203740; Developmental delay; ataxia; seizure; raised lactate
Mitochondrial disease v0.684 OGDH Zornitza Stark edited their review of gene: OGDH: Changed phenotypes: Oxoglutarate dehydrogenase deficiency, MIM# 203740, Developmental delay, ataxia, seizure, raised lactate
Mitochondrial disease v0.684 FOXRED1 Zornitza Stark Marked gene: FOXRED1 as ready
Mitochondrial disease v0.684 FOXRED1 Zornitza Stark Gene: foxred1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.684 FOXRED1 Zornitza Stark Phenotypes for gene: FOXRED1 were changed from to Mitochondrial complex I deficiency, nuclear type 19 MIM#618241
Mitochondrial disease v0.683 FOXRED1 Zornitza Stark Publications for gene: FOXRED1 were set to
Mitochondrial disease v0.682 FOXRED1 Zornitza Stark Mode of inheritance for gene: FOXRED1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.681 FOXRED1 Zornitza Stark reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33613441; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19 MIM#618241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.681 COX15 Zornitza Stark Marked gene: COX15 as ready
Mitochondrial disease v0.681 COX15 Zornitza Stark Gene: cox15 has been classified as Green List (High Evidence).
Mitochondrial disease v0.681 COX15 Zornitza Stark Phenotypes for gene: COX15 were changed from to Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119
Mitochondrial disease v0.680 COX15 Zornitza Stark Publications for gene: COX15 were set to
Mitochondrial disease v0.679 COX15 Zornitza Stark Mode of inheritance for gene: COX15 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.678 COX15 Zornitza Stark reviewed gene: COX15: Rating: GREEN; Mode of pathogenicity: None; Publications: 33746038, 32232962, 26959537, 21412973, 12474143, 15235026; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.678 ATP5A1 Zornitza Stark Phenotypes for gene: ATP5A1 were changed from Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mitochondrial disorder, autosomal dominant to Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mitochondrial disorder, autosomal dominant
Mitochondrial disease v0.677 ATP5A1 Zornitza Stark Phenotypes for gene: ATP5A1 were changed from Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228 to Combined oxidative phosphorylation deficiency 22 616045; Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228; Mitochondrial disorder, autosomal dominant
Mitochondrial disease v0.676 ATP5A1 Zornitza Stark Publications for gene: ATP5A1 were set to 23599390
Mitochondrial disease v0.675 ATP5A1 Zornitza Stark Mode of inheritance for gene: ATP5A1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.674 ATP5A1 Naomi Baker reviewed gene: ATP5A1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 34483339; Phenotypes: feeding intolerance, failure to thrive, hyperammonemia, lactic acidemia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.674 SLIRP Zornitza Stark Marked gene: SLIRP as ready
Mitochondrial disease v0.674 SLIRP Zornitza Stark Gene: slirp has been classified as Red List (Low Evidence).
Mitochondrial disease v0.674 SLIRP Zornitza Stark Classified gene: SLIRP as Red List (low evidence)
Mitochondrial disease v0.674 SLIRP Zornitza Stark Gene: slirp has been classified as Red List (Low Evidence).
Mitochondrial disease v0.673 SLIRP Belinda Chong gene: SLIRP was added
gene: SLIRP was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: SLIRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLIRP were set to 34426662
Phenotypes for gene: SLIRP were set to Mitochondrial encephalomyopathy with complex I and IV deficiency
Added comment: Single Dutch non-consanguineous patient having mitochondrial encephalomyopathy with complex I and complex IV deficiency, whole exome sequencing revealed two compound heterozygous variants (NM_031210.5:c.248_252del; NP_112487.1:p.(Ile83Argfs*10) and NC_000014.8:g.78177003 A > G; NM_031210.5:c.98-178 A > G) in SLIRP. Report SLIRP variants as a novel cause of mitochondrial encephalomyopathy with OXPHOS deficiency
Sources: Literature
Sources: Literature
Mitochondrial disease v0.673 OGDH Zornitza Stark Marked gene: OGDH as ready
Mitochondrial disease v0.673 OGDH Zornitza Stark Gene: ogdh has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.673 OGDH Zornitza Stark Classified gene: OGDH as Amber List (moderate evidence)
Mitochondrial disease v0.673 OGDH Zornitza Stark Gene: ogdh has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.672 OGDH Zornitza Stark gene: OGDH was added
gene: OGDH was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: OGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OGDH were set to 32383294
Phenotypes for gene: OGDH were set to Developmental delay; ataxia; seizure; raised lactate
Review for gene: OGDH was set to AMBER
Added comment: Two siblings reported with homozygous missense variant in this gene and global developmental delay, elevated lactate, ataxia and seizure. Fibroblast analysis and modeling of the mutation in Drosophila were used to evaluate pathogenicity of the variant. Note previous report of an individual with developmental delay, hypotonia, and movement disorders and metabolic decompensation and biochemical evidence of OGDH deficiency but genetic testing not done.
Sources: Literature
Mitochondrial disease v0.671 MTPAP Zornitza Stark Phenotypes for gene: MTPAP were changed from Spastic ataxia 4, autosomal recessive 613672 to Spastic ataxia 4, autosomal recessive 613672; Lethal encephalopathy
Mitochondrial disease v0.670 MTPAP Zornitza Stark Tag founder tag was added to gene: MTPAP.
Mitochondrial disease v0.670 MTPAP Zornitza Stark changed review comment from: At least two families reported, functional data.; to: Three families reported, functional data. However, note that the 6 individuals with spastic ataxia all had same founder variant and were traced as distantly related (Amish community). Two additional families reported with a much more severe phenotype of lethal encephalopathy.

These are likely to represent a continuum of severity associated with a mitochondrial disorder.
Mitochondrial disease v0.670 GTPBP3 Zornitza Stark Marked gene: GTPBP3 as ready
Mitochondrial disease v0.670 GTPBP3 Zornitza Stark Gene: gtpbp3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.670 GTPBP3 Zornitza Stark Phenotypes for gene: GTPBP3 were changed from to Combined oxidative phosphorylation deficiency 23, MIM#616198
Mitochondrial disease v0.669 GTPBP3 Zornitza Stark Publications for gene: GTPBP3 were set to
Mitochondrial disease v0.668 GTPBP3 Zornitza Stark Mode of inheritance for gene: GTPBP3 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.668 GTPBP3 Zornitza Stark Mode of inheritance for gene: GTPBP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.667 GTPBP3 Zornitza Stark reviewed gene: GTPBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34276756, 25434004; Phenotypes: Combined oxidative phosphorylation deficiency 23 MIM#616198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.667 ACO2 Zornitza Stark Marked gene: ACO2 as ready
Mitochondrial disease v0.667 ACO2 Zornitza Stark Gene: aco2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.667 ACO2 Zornitza Stark Phenotypes for gene: ACO2 were changed from to Infantile cerebellar-retinal degeneration, MIM#614559; Optic atrophy 9, MIM# 616289
Mitochondrial disease v0.666 ACO2 Zornitza Stark Publications for gene: ACO2 were set to
Mitochondrial disease v0.665 ACO2 Zornitza Stark Mode of inheritance for gene: ACO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.664 ACO2 Zornitza Stark reviewed gene: ACO2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22405087, 25351951, 30689204, 32519519, 25351951; Phenotypes: Infantile cerebellar-retinal degeneration, MIM#614559, Optic atrophy 9, MIM# 616289; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.664 ELAC2 Zornitza Stark Marked gene: ELAC2 as ready
Mitochondrial disease v0.664 ELAC2 Zornitza Stark Gene: elac2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.664 ELAC2 Zornitza Stark Phenotypes for gene: ELAC2 were changed from to Combined oxidative phosphorylation deficiency 17, MIM#615440
Mitochondrial disease v0.663 ELAC2 Zornitza Stark Publications for gene: ELAC2 were set to
Mitochondrial disease v0.662 ELAC2 Zornitza Stark Mode of inheritance for gene: ELAC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.661 ELAC2 Zornitza Stark reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23849775, 31045291; Phenotypes: Combined oxidative phosphorylation deficiency 17, MIM#615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.661 COQ4 Zornitza Stark Marked gene: COQ4 as ready
Mitochondrial disease v0.661 COQ4 Zornitza Stark Gene: coq4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.661 COQ4 Zornitza Stark Phenotypes for gene: COQ4 were changed from to Coenzyme Q10 deficiency, primary, 7, MIM# 616276
Mitochondrial disease v0.660 COQ4 Zornitza Stark Publications for gene: COQ4 were set to 25658047; 26185144; 33704555
Mitochondrial disease v0.659 COQ4 Zornitza Stark Publications for gene: COQ4 were set to
Mitochondrial disease v0.658 COQ4 Zornitza Stark Mode of inheritance for gene: COQ4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.657 COQ4 Zornitza Stark reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25658047, 26185144, 33704555; Phenotypes: Coenzyme Q10 deficiency, primary, 7, MIM# 616276; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.657 KIAA0391 Zornitza Stark reviewed gene: KIAA0391: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.657 KIAA0391 Zornitza Stark Marked gene: KIAA0391 as ready
Mitochondrial disease v0.657 KIAA0391 Zornitza Stark Gene: kiaa0391 has been classified as Green List (High Evidence).
Mitochondrial disease v0.657 KIAA0391 Zornitza Stark Phenotypes for gene: KIAA0391 were changed from Hearing loss, intellectual disability to Hearing loss, intellectual disability; Mitochondrial disorder
Mitochondrial disease v0.656 KIAA0391 Zornitza Stark Classified gene: KIAA0391 as Green List (high evidence)
Mitochondrial disease v0.656 KIAA0391 Zornitza Stark Gene: kiaa0391 has been classified as Green List (High Evidence).
Mitochondrial disease v0.655 KIAA0391 Lucy Spencer reviewed gene: KIAA0391: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34715011; Phenotypes: Hearing loss, intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.655 KIAA0391 Lucy Spencer gene: KIAA0391 was added
gene: KIAA0391 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: KIAA0391 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0391 were set to PMID: 34715011
Phenotypes for gene: KIAA0391 were set to Hearing loss, intellectual disability
Mitochondrial disease v0.655 P4HTM Zornitza Stark Marked gene: P4HTM as ready
Mitochondrial disease v0.655 P4HTM Zornitza Stark Gene: p4htm has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.655 P4HTM Zornitza Stark Classified gene: P4HTM as Amber List (moderate evidence)
Mitochondrial disease v0.655 P4HTM Zornitza Stark Gene: p4htm has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.654 P4HTM Zornitza Stark gene: P4HTM was added
gene: P4HTM was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: P4HTM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: P4HTM were set to 25078763; 30940925; 34285383
Phenotypes for gene: P4HTM were set to Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities; OMIM #618493
Review for gene: P4HTM was set to AMBER
Added comment: Mitochondrial dysfunction reported in at least 4 individuals who had muscle biopsies.

P4HTM encodes a transmembrane prolyl 4-hydroxylase with putative targets including hypoxia inducible factors, RNA polymerase II and activating transcription factor 4, which has been implicated in the integrated stress response observed in cell and animal models of mitochondrial disease. Authors postulate this may explain the mitochondrial dysfunction observed in HIDEA syndrome.
Sources: Literature
Mitochondrial disease v0.653 TARS2 Zornitza Stark Publications for gene: TARS2 were set to 24827421; 26811336; 33153448
Mitochondrial disease v0.652 TARS2 Zornitza Stark Classified gene: TARS2 as Green List (high evidence)
Mitochondrial disease v0.652 TARS2 Zornitza Stark Gene: tars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.651 TARS2 Krithika Murali reviewed gene: TARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33153448, 24827421, 34508595; Phenotypes: Combined oxidative phosphorylation deficiency 21 - 615918, Epilepsy, Developmental Delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.651 VARS2 Zornitza Stark Marked gene: VARS2 as ready
Mitochondrial disease v0.651 VARS2 Zornitza Stark Gene: vars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.651 VARS2 Zornitza Stark Phenotypes for gene: VARS2 were changed from to Combined oxidative phosphorylation deficiency 20; OMIM #615917
Mitochondrial disease v0.650 VARS2 Zornitza Stark Publications for gene: VARS2 were set to
Mitochondrial disease v0.649 VARS2 Zornitza Stark Mode of inheritance for gene: VARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.648 VARS2 Zornitza Stark reviewed gene: VARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24827421, 25058219, 29137650, 29314548, 31064326, 31623496; Phenotypes: Combined oxidative phosphorylation deficiency 20, OMIM #615917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.648 YARS2 Zornitza Stark Marked gene: YARS2 as ready
Mitochondrial disease v0.648 YARS2 Zornitza Stark Gene: yars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.648 YARS2 Zornitza Stark Phenotypes for gene: YARS2 were changed from to Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561; sideroblastic anaemia; muscle atrophy; myopathy; lactic acidosis; Hypertrophic cardiomyopathy; Hepatomegaly; Decreased cytochrome C oxidase activity
Mitochondrial disease v0.647 YARS2 Zornitza Stark Publications for gene: YARS2 were set to
Mitochondrial disease v0.646 YARS2 Zornitza Stark Mode of inheritance for gene: YARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.645 YARS2 Zornitza Stark reviewed gene: YARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 24430573, 24344687; Phenotypes: Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561, sideroblastic anaemia, muscle atrophy, myopathy, lactic acidosis, Hypertrophic cardiomyopathy, Hepatomegaly, Decreased cytochrome C oxidase activity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.645 PRDX3 Zornitza Stark Marked gene: PRDX3 as ready
Mitochondrial disease v0.645 PRDX3 Zornitza Stark Gene: prdx3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.645 PRDX3 Zornitza Stark Classified gene: PRDX3 as Green List (high evidence)
Mitochondrial disease v0.645 PRDX3 Zornitza Stark Gene: prdx3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.644 PRDX3 Zornitza Stark gene: PRDX3 was added
gene: PRDX3 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: PRDX3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRDX3 were set to 33889951
Phenotypes for gene: PRDX3 were set to Cerebellar ataxia (early onset, mild to moderate, progressive)
Review for gene: PRDX3 was set to GREEN
Added comment: Biallelic variants in 5 unrelated families with early onset (median 21 years , range 13-22 years) with ataxia with variable additional hyper- and hypokinetic movement disorders, and severe early-onset cerebellar atrophy (seen on MRI), and involvement of the brainstem, medullary olive and parietal cortex.

Evolution of the disease was gait ataxia leading to upper limb ataxia, then dysarthria and then dysphagia, all within a decade. For some of these patients, the phenotype included myoclonus, dystonia and / or tremor. Mild classical mitochondrial features were seen in one of the patients, namely ptosis and COX-negative fibres.

The variants were homozygous nonsense, homozygous frameshift, homozygous missense, and a compound heterozygote with a splice variant and missense, all leading to complete loss of the protein. Oxidative stress and mitochondrial dysfunction was indicated as the disease mechanism.

The families originated from Germany, France, India and two from eastern Turkey. The two families from Turkey were seemingly unrelated to each other but had the same homozygous missense.

Patient fibroblasts from each of the five probands showed lack of protein (via Western blot) and decreased glutathione peroxidase activity and decreased mitochondrial maximal respiratory capacity.

PRDX3 encodes peroxiredoxin 3, a mitochondrial antioxidant protein, that catalyses the reduction of hydrogen peroxide. It localises in the mitochondria, where most hydrogen peroxide is generated.

Functional studies: PRDX3 knockdown (induced by silencing RNA against PRDX3) in cerebellar medulloblastoma cells showed significantly decreased cell viability, increased hydrogen peroxide levels and increased susceptibility to apoptosis triggered by reactive oxygen species.

In addition, induced knockdown drosophila (in vivo animal model) had aberrant locomotor phenotypes and reduced lifespans, while immunolabelling of the brain showed increased cell death after exposure to oxidative stress.
Sources: Literature
Mitochondrial disease v0.643 POLG2 Zornitza Stark Marked gene: POLG2 as ready
Mitochondrial disease v0.643 POLG2 Zornitza Stark Gene: polg2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.643 POLG2 Zornitza Stark Phenotypes for gene: POLG2 were changed from to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131; Mitochondrial DNA depletion syndrome 16 , MIM# 618528
Mitochondrial disease v0.642 POLG2 Zornitza Stark Publications for gene: POLG2 were set to
Mitochondrial disease v0.641 POLG2 Zornitza Stark Mode of inheritance for gene: POLG2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.640 POLG2 Zornitza Stark reviewed gene: POLG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16685652, 21555342, 27592148, 31778857; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131, Mitochondrial DNA depletion syndrome 16 , MIM# 618528; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.640 C2orf69 Zornitza Stark Marked gene: C2orf69 as ready
Mitochondrial disease v0.640 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Mitochondrial disease v0.640 C2orf69 Zornitza Stark edited their review of gene: C2orf69: Changed publications: 34038740, 33945503
Mitochondrial disease v0.640 C2orf69 Zornitza Stark Publications for gene: C2orf69 were set to 34038740
Mitochondrial disease v0.639 C2orf69 Zornitza Stark Classified gene: C2orf69 as Green List (high evidence)
Mitochondrial disease v0.639 C2orf69 Zornitza Stark Gene: c2orf69 has been classified as Green List (High Evidence).
Mitochondrial disease v0.638 C2orf69 Zornitza Stark gene: C2orf69 was added
gene: C2orf69 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2orf69 were set to 34038740
Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423
Review for gene: C2orf69 was set to GREEN
Added comment: PMID 34038740: 20 affected children from 8 unrelated families reported, presenting with fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy with recurrent seizures; 12 of these subjects, whose DNA was available, segregated homozygous loss-of-function C2orf69 variants. Endogenous C2ORF69 was found to be (1) loosely bound to mitochondria, (2) affects mitochondrial membrane potential and oxidative respiration in cultured neurons, and (3) controls the levels of the glycogen branching enzyme 1 (GBE1) consistent with a glycogen-storage-associated mitochondriopathy. Zebrafish model.

PMID 33945503: 8 individuals from 5 families reported with muscle hypotonia, developmental delay, progressive microcephaly, and brain MRI abnormalities. Age at onset ranged from birth to 6 months of age. Six patients had vision impairment, liver abnormalities, inflammation/inflammatory arthritis, and 5 patients had seizures.
Sources: Literature
Mitochondrial disease v0.637 PITRM1 Zornitza Stark Phenotypes for gene: PITRM1 were changed from Cerebellar atrophy; mental retardation; spinocerebellar ataxia; cognitive decline; psychosis to Spinocerebellar ataxia-30 (SCAR30), MIM#619405; intellectual disability; cognitive decline; psychosis
Mitochondrial disease v0.636 PITRM1 Zornitza Stark reviewed gene: PITRM1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia-30 (SCAR30), MIM#619405, intellectual disability, cognitive decline, psychosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.636 CLPB Zornitza Stark Marked gene: CLPB as ready
Mitochondrial disease v0.636 CLPB Zornitza Stark Gene: clpb has been classified as Green List (High Evidence).
Mitochondrial disease v0.636 CLPB Zornitza Stark Phenotypes for gene: CLPB were changed from to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271
Mitochondrial disease v0.635 CLPB Zornitza Stark Publications for gene: CLPB were set to
Mitochondrial disease v0.634 CLPB Zornitza Stark Mode of inheritance for gene: CLPB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.633 CLPB Zornitza Stark reviewed gene: CLPB: Rating: GREEN; Mode of pathogenicity: None; Publications: 25597510, 34140661; Phenotypes: 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.633 NFS1 Zornitza Stark Publications for gene: NFS1 were set to 24498631
Mitochondrial disease v0.632 NFS1 Zornitza Stark Phenotypes for gene: NFS1 were changed from Complex II/III deficiency; multisystem organ failure to Combined oxidative phosphorylation deficiency 52, MIM#619386; Complex II/III deficiency; multisystem organ failure
Mitochondrial disease v0.631 NFS1 Zornitza Stark edited their review of gene: NFS1: Changed phenotypes: Combined oxidative phosphorylation deficiency 52, MIM#619386, Complex II/III deficiency, multisystem organ failure
Mitochondrial disease v0.631 DNAJC30 Zornitza Stark Phenotypes for gene: DNAJC30 were changed from Leber Hereditary Optic Neuropathy to Leber Hereditary Optic Neuropathy, MIM#619382
Mitochondrial disease v0.630 DNAJC30 Zornitza Stark reviewed gene: DNAJC30: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leber Hereditary Optic Neuropathy, MIM#619382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.630 COX16 Zornitza Stark Phenotypes for gene: COX16 were changed from Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis to Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355; Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis
Mitochondrial disease v0.629 COX16 Zornitza Stark reviewed gene: COX16: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.629 NFU1 Zornitza Stark Marked gene: NFU1 as ready
Mitochondrial disease v0.629 NFU1 Zornitza Stark Gene: nfu1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.629 NFU1 Zornitza Stark Phenotypes for gene: NFU1 were changed from to Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711
Mitochondrial disease v0.628 NFU1 Zornitza Stark Publications for gene: NFU1 were set to
Mitochondrial disease v0.627 NFU1 Zornitza Stark Mode of inheritance for gene: NFU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.626 NFU1 Zornitza Stark reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944046, 22077971, 32747156, 29441221; Phenotypes: Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.626 NDUFB3 Zornitza Stark Marked gene: NDUFB3 as ready
Mitochondrial disease v0.626 NDUFB3 Zornitza Stark Gene: ndufb3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.626 NDUFB3 Zornitza Stark Phenotypes for gene: NDUFB3 were changed from to Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246; MONDO:0032629
Mitochondrial disease v0.625 NDUFB3 Zornitza Stark Publications for gene: NDUFB3 were set to
Mitochondrial disease v0.624 NDUFB3 Zornitza Stark Mode of inheritance for gene: NDUFB3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.623 NDUFB3 Zornitza Stark reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499348, 27091925; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246, MONDO:0032629; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.623 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Pontocerebellar hypoplasia, type 1E, MIM# 619303
Mitochondrial disease v0.622 SLC25A46 Zornitza Stark changed review comment from: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus.

At least 10 unrelated families reported, supportive functional data.

Mitochondrial carrier protein.; to: Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they show abnormal movements, such as ataxia, dysmetria, and myoclonus. New PCH disease entity added by OMIM in 2021 to reflect the more severe end of the spectrum.

At least 10 unrelated families reported, supportive functional data.

Mitochondrial carrier protein.
Mitochondrial disease v0.622 SLC25A46 Zornitza Stark edited their review of gene: SLC25A46: Changed phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505, Pontocerebellar hypoplasia, type 1E, MIM# 619303
Mitochondrial disease v0.622 MT-RNR1 Zornitza Stark Publications for gene: MT-RNR1 were set to
Mitochondrial disease v0.621 MT-RNR1 Chern Lim reviewed gene: MT-RNR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301595; Phenotypes: ; Mode of inheritance: MITOCHONDRIAL; Current diagnostic: yes
Mitochondrial disease v0.621 COX6A1 Zornitza Stark Marked gene: COX6A1 as ready
Mitochondrial disease v0.621 COX6A1 Zornitza Stark Gene: cox6a1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.621 COX6A1 Zornitza Stark Phenotypes for gene: COX6A1 were changed from to Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039; MONDO:0014467
Mitochondrial disease v0.620 COX6A1 Zornitza Stark Publications for gene: COX6A1 were set to
Mitochondrial disease v0.619 COX6A1 Zornitza Stark Mode of inheritance for gene: COX6A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.618 COX6A1 Zornitza Stark reviewed gene: COX6A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25152455, 26302975, 25152455; Phenotypes: Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039, MONDO:0014467; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.618 COQ2 Zornitza Stark Marked gene: COQ2 as ready
Mitochondrial disease v0.618 COQ2 Zornitza Stark Gene: coq2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.618 COQ2 Zornitza Stark Phenotypes for gene: COQ2 were changed from to Coenzyme Q10 deficiency, primary, 1, MIM# 607426; MONDO:0011829
Mitochondrial disease v0.617 COQ2 Zornitza Stark Publications for gene: COQ2 were set to
Mitochondrial disease v0.616 COQ2 Zornitza Stark Mode of inheritance for gene: COQ2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.615 COQ2 Zornitza Stark reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16400613, 17332895, 17855635; Phenotypes: Coenzyme Q10 deficiency, primary, 1, MIM# 607426, MONDO:0011829; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.615 COA6 Zornitza Stark Marked gene: COA6 as ready
Mitochondrial disease v0.615 COA6 Zornitza Stark Gene: coa6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.615 COA6 Zornitza Stark Phenotypes for gene: COA6 were changed from to Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501; Cardioencephalomyopathy, fatal infantile, MONDO:0014668
Mitochondrial disease v0.614 COA6 Zornitza Stark Publications for gene: COA6 were set to
Mitochondrial disease v0.613 COA6 Zornitza Stark Mode of inheritance for gene: COA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.612 COA6 Zornitza Stark edited their review of gene: COA6: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501, Cardioencephalomyopathy, fatal infantile, MONDO:0014668
Mitochondrial disease v0.612 COA6 Zornitza Stark reviewed gene: COA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 24549041, 25339201, 31851937, 26160915; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 13, MIM# 616501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.612 CARS2 Zornitza Stark Phenotypes for gene: CARS2 were changed from Combined oxidative phosphorylation deficiency 27, MIM# 616672 to Combined oxidative phosphorylation deficiency 27, MIM# 616672; MONDO:0014728
Mitochondrial disease v0.611 CARS2 Zornitza Stark Marked gene: CARS2 as ready
Mitochondrial disease v0.611 CARS2 Zornitza Stark Gene: cars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.611 CARS2 Zornitza Stark Phenotypes for gene: CARS2 were changed from to Combined oxidative phosphorylation deficiency 27, MIM# 616672
Mitochondrial disease v0.610 CARS2 Zornitza Stark Publications for gene: CARS2 were set to
Mitochondrial disease v0.609 CARS2 Zornitza Stark Mode of inheritance for gene: CARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.608 CARS2 Zornitza Stark reviewed gene: CARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25361775, 25787132, 30139652; Phenotypes: Combined oxidative phosphorylation deficiency 27, MIM# 616672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.608 ACAT1 Zornitza Stark Marked gene: ACAT1 as ready
Mitochondrial disease v0.608 ACAT1 Zornitza Stark Gene: acat1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.608 ACADSB Zornitza Stark Marked gene: ACADSB as ready
Mitochondrial disease v0.608 ACADSB Zornitza Stark Gene: acadsb has been classified as Green List (High Evidence).
Mitochondrial disease v0.608 MECR Zornitza Stark Marked gene: MECR as ready
Mitochondrial disease v0.608 MECR Zornitza Stark Gene: mecr has been classified as Green List (High Evidence).
Mitochondrial disease v0.608 MECR Zornitza Stark Phenotypes for gene: MECR were changed from to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282; MONDO:0015003
Mitochondrial disease v0.607 MECR Zornitza Stark Publications for gene: MECR were set to
Mitochondrial disease v0.606 MECR Zornitza Stark Mode of inheritance for gene: MECR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.605 MECR Zornitza Stark reviewed gene: MECR: Rating: GREEN; Mode of pathogenicity: None; Publications: 27817865, 33401012, 31137067, 31070877; Phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282, MONDO:0015003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.605 MORC2 Zornitza Stark Marked gene: MORC2 as ready
Mitochondrial disease v0.605 MORC2 Zornitza Stark Added comment: Comment when marking as ready: Phenotypic overlap.
Mitochondrial disease v0.605 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.605 MORC2 Zornitza Stark Classified gene: MORC2 as Green List (high evidence)
Mitochondrial disease v0.605 MORC2 Zornitza Stark Gene: morc2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.604 MORC2 Naomi Baker gene: MORC2 was added
gene: MORC2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: MORC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MORC2 were set to PMID: 32693025
Phenotypes for gene: MORC2 were set to Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090; Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688.
Review for gene: MORC2 was set to GREEN
Added comment: Five of eighteen individuals for whom brain imaging was available had lesions reminiscent of those observed in Leigh syndrome.
Sources: Literature
Mitochondrial disease v0.604 LIG3 Zornitza Stark Marked gene: LIG3 as ready
Mitochondrial disease v0.604 LIG3 Zornitza Stark Gene: lig3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.604 LIG3 Zornitza Stark Classified gene: LIG3 as Green List (high evidence)
Mitochondrial disease v0.604 LIG3 Zornitza Stark Gene: lig3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.603 LIG3 John Christodoulou gene: LIG3 was added
gene: LIG3 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: LIG3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LIG3 were set to PMID: 33855352
Phenotypes for gene: LIG3 were set to gut dysmotility; spasticity; ataxia; repetitive behaviours; neurogenic bladder; macular degeneration; leukoencephalopathy; cerebellar atrophy
Penetrance for gene: LIG3 were set to Complete
Review for gene: LIG3 was set to GREEN
Added comment: Three families, each with multiple affected individuals with different biallelic LoF variants.

Solid functional data presented - cell based and zebrafish model
Sources: Literature
Mitochondrial disease v0.603 NDUFB11 Zornitza Stark Phenotypes for gene: NDUFB11 were changed from Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021) to Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); MONDO:0010494; Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); MONDO:0026721
Mitochondrial disease v0.602 NDUFB11 Zornitza Stark Marked gene: NDUFB11 as ready
Mitochondrial disease v0.602 NDUFB11 Zornitza Stark Gene: ndufb11 has been classified as Green List (High Evidence).
Mitochondrial disease v0.602 NDUFB11 Zornitza Stark Phenotypes for gene: NDUFB11 were changed from to Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952); Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021)
Mitochondrial disease v0.601 NDUFB11 Zornitza Stark Publications for gene: NDUFB11 were set to
Mitochondrial disease v0.600 NDUFB11 Zornitza Stark Mode of inheritance for gene: NDUFB11 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disease v0.599 NDUFB11 Zornitza Stark reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 28050600, 27488349, 30423443, 27488349; Phenotypes: Linear skin defects with multiple congenital anomalies 3, XLD (MIM#300952), Mitochondrial complex I deficiency, nuclear type 30, XLR (MIM#301021); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disease v0.599 NDUFA8 Zornitza Stark Phenotypes for gene: NDUFA8 were changed from NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures to Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272; Developmental delay; microcehaly; seizures
Mitochondrial disease v0.598 NDUFA8 Zornitza Stark Publications for gene: NDUFA8 were set to 32385911
Mitochondrial disease v0.597 NDUFA8 Zornitza Stark Classified gene: NDUFA8 as Amber List (moderate evidence)
Mitochondrial disease v0.597 NDUFA8 Zornitza Stark Gene: ndufa8 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.596 NDUFA8 Zornitza Stark edited their review of gene: NDUFA8: Added comment: Second family reported with pair of affected siblings and homozygous missense variant, some functional data.; Changed rating: AMBER; Changed publications: 32385911, 33153867; Changed phenotypes: Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272, Developmental delay, microcehaly, seizures, lactic acidosis
Mitochondrial disease v0.596 NDUFA12 Bryony Thompson Publications for gene: NDUFA12 were set to 21617257
Mitochondrial disease v0.595 NDUFA12 Bryony Thompson Classified gene: NDUFA12 as Green List (high evidence)
Mitochondrial disease v0.595 NDUFA12 Bryony Thompson Gene: ndufa12 has been classified as Green List (High Evidence).
Mitochondrial disease v0.594 NDUFA12 Bryony Thompson reviewed gene: NDUFA12: Rating: GREEN; Mode of pathogenicity: None; Publications: 21617257, 33715266; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23 MIM#618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.594 NDUFB7 Bryony Thompson Marked gene: NDUFB7 as ready
Mitochondrial disease v0.594 NDUFB7 Bryony Thompson Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.594 NDUFB7 Bryony Thompson Classified gene: NDUFB7 as Amber List (moderate evidence)
Mitochondrial disease v0.594 NDUFB7 Bryony Thompson Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.593 NDUFB7 Bryony Thompson gene: NDUFB7 was added
gene: NDUFB7 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB7 were set to 33502047; 27626371
Phenotypes for gene: NDUFB7 were set to Congenital lactic acidosis; hypertrophic cardiomyopathy
Review for gene: NDUFB7 was set to AMBER
Added comment: Single patient with a homozygous variant impacting RNA splicing (c.113-10C>G) with intrauterine growth restriction and anaemia, which displayed postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with fatal outcome. Also, a supporting knockout cell line model demonstrating impaired complex I assembly.
Sources: Literature
Mitochondrial disease v0.592 ABCB7 Zornitza Stark Marked gene: ABCB7 as ready
Mitochondrial disease v0.592 ABCB7 Zornitza Stark Gene: abcb7 has been classified as Green List (High Evidence).
Mitochondrial disease v0.592 ABCB7 Zornitza Stark Phenotypes for gene: ABCB7 were changed from to Anaemia, sideroblastic, with ataxia, MIM# 301310
Mitochondrial disease v0.591 ABCB7 Zornitza Stark Publications for gene: ABCB7 were set to
Mitochondrial disease v0.590 ABCB7 Zornitza Stark Mode of inheritance for gene: ABCB7 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disease v0.589 ABCB7 Zornitza Stark reviewed gene: ABCB7: Rating: GREEN; Mode of pathogenicity: None; Publications: 10196363, 10196363, 33157103, 31772327, 31511561, 26242992; Phenotypes: Anaemia, sideroblastic, with ataxia, MIM# 301310; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disease v0.589 TOP3A Zornitza Stark Marked gene: TOP3A as ready
Mitochondrial disease v0.589 TOP3A Zornitza Stark Gene: top3a has been classified as Green List (High Evidence).
Mitochondrial disease v0.589 TOP3A Zornitza Stark Phenotypes for gene: TOP3A were changed from to Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098
Mitochondrial disease v0.588 TOP3A Zornitza Stark Publications for gene: TOP3A were set to
Mitochondrial disease v0.587 TOP3A Zornitza Stark Mode of inheritance for gene: TOP3A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.586 TOP3A Zornitza Stark reviewed gene: TOP3A: Rating: GREEN; Mode of pathogenicity: None; Publications: 30057030, 33631320, 29290614; Phenotypes: Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.586 C12orf65 Zornitza Stark Marked gene: C12orf65 as ready
Mitochondrial disease v0.586 C12orf65 Zornitza Stark Gene: c12orf65 has been classified as Green List (High Evidence).
Mitochondrial disease v0.586 C12orf65 Zornitza Stark Tag new gene name tag was added to gene: C12orf65.
Mitochondrial disease v0.586 C12orf65 Zornitza Stark Phenotypes for gene: C12orf65 were changed from to Spastic paraplegia 55, autosomal recessive, MIM#615035; Combined oxidative phosphorylation deficiency 7, MIM# 613559
Mitochondrial disease v0.585 C12orf65 Zornitza Stark Publications for gene: C12orf65 were set to
Mitochondrial disease v0.584 C12orf65 Zornitza Stark Mode of inheritance for gene: C12orf65 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.583 C12orf65 Zornitza Stark reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: None; Publications: 23188110, 24080142, 24198383, 20598281, 32808965, 32478789, 28804760; Phenotypes: Spastic paraplegia 55, autosomal recessive, MIM#615035, Combined oxidative phosphorylation deficiency 7, MIM# 613559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.583 SDHB Zornitza Stark Phenotypes for gene: SDHB were changed from Complex II deficiency; mitochondrial leucoencephalopathy to Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224; Complex II deficiency; mitochondrial leucoencephalopathy
Mitochondrial disease v0.582 SDHB Zornitza Stark edited their review of gene: SDHB: Changed phenotypes: Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224, Complex II deficiency, mitochondrial leucoencephalopathy
Mitochondrial disease v0.582 SQOR Zornitza Stark Phenotypes for gene: SQOR were changed from Leigh-like disorder to Leigh-like disorder; Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221
Mitochondrial disease v0.581 SQOR Zornitza Stark edited their review of gene: SQOR: Changed phenotypes: Leigh-like disorder, Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221
Mitochondrial disease v0.581 POLRMT Zornitza Stark Marked gene: POLRMT as ready
Mitochondrial disease v0.581 POLRMT Zornitza Stark Gene: polrmt has been classified as Green List (High Evidence).
Mitochondrial disease v0.581 POLRMT Zornitza Stark Publications for gene: POLRMT were set to
Mitochondrial disease v0.580 POLRMT Zornitza Stark Classified gene: POLRMT as Green List (high evidence)
Mitochondrial disease v0.580 POLRMT Zornitza Stark Gene: polrmt has been classified as Green List (High Evidence).
Mitochondrial disease v0.579 POLRMT Zornitza Stark edited their review of gene: POLRMT: Changed publications: 33602924
Mitochondrial disease v0.579 POLRMT Zornitza Stark gene: POLRMT was added
gene: POLRMT was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: POLRMT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLRMT were set to Mitochondrial disorder; intellectual disability; hypotonia
Review for gene: POLRMT was set to GREEN
Added comment: 8 individuals from 7 families reported. 5 families with bi-allelic variants and 2 with heterozygous variants. Affected individuals presented with global developmental delay, hypotonia, short stature, and speech/intellectual disability in childhood; one subject displayed an indolent progressive external ophthalmoplegia phenotype.
Sources: Literature
Mitochondrial disease v0.578 APOO Zornitza Stark Marked gene: APOO as ready
Mitochondrial disease v0.578 APOO Zornitza Stark Gene: apoo has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.578 APOO Zornitza Stark Classified gene: APOO as Amber List (moderate evidence)
Mitochondrial disease v0.578 APOO Zornitza Stark Gene: apoo has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.577 APOO Zornitza Stark gene: APOO was added
gene: APOO was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: APOO was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: APOO were set to 32439808
Phenotypes for gene: APOO were set to Developmental delay; Lactic acidosis; Muscle weakness; Hypotonia; Repetitive infections; Cognitive impairment; Autistic behaviour
Review for gene: APOO was set to AMBER
Added comment: - PMID: 32439808 (2021) - Three generation family with c.350T>C variant in APOO, encoding a component of the MICOS complex which plays a role in maintaining inner mitochondrial membrane architecture.
Phenotypes include fatigue and muscle weakness (6/8), learning difficulties and cognitive impairment (4/8), and increased blood lactate (2/8). Four individuals were asymptomatic carriers, including one male (authors indicate variability in female carriers was due to skewed X-inactivation, although skewing studies were inconclusive in some cases). Variability in clinical presentation suggests reduced penetrance or possible contribution of additional factors.
Functional studies showed altered MICOS assembly and abnormalities in mitochondria ultrastructure in patient-derived fibroblasts. Knockdown studies in Drosophila and yeast demonstrated mitochondrial structural and functional deficiencies.
Sources: Literature
Mitochondrial disease v0.576 DNAJC30 Zornitza Stark Marked gene: DNAJC30 as ready
Mitochondrial disease v0.576 DNAJC30 Zornitza Stark Gene: dnajc30 has been classified as Green List (High Evidence).
Mitochondrial disease v0.576 DNAJC30 Zornitza Stark Classified gene: DNAJC30 as Green List (high evidence)
Mitochondrial disease v0.576 DNAJC30 Zornitza Stark Gene: dnajc30 has been classified as Green List (High Evidence).
Mitochondrial disease v0.575 DNAJC30 John Christodoulou gene: DNAJC30 was added
gene: DNAJC30 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: DNAJC30 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC30 were set to PMID: 33465056
Phenotypes for gene: DNAJC30 were set to Leber Hereditary Optic Neuropathy
Penetrance for gene: DNAJC30 were set to Incomplete
Review for gene: DNAJC30 was set to GREEN
Added comment: 33 individuals from 29 families had homozygous DNAJC30 missense variants. Three different variants identified (one responsible for most cases0.
All three variants not seen in gnomAD.
Interestingly - incomplete penetrance and male predominance in affected individuals both typical of LHON due to mtDNA mutations!
All 3 variants in the J domain of the protein.
Good functional evidence also provided
This is the first nuclear encoded phenocopy of mtLHON.
Sources: Literature
Mitochondrial disease v0.575 NFS1 Zornitza Stark Classified gene: NFS1 as Green List (high evidence)
Mitochondrial disease v0.575 NFS1 Zornitza Stark Gene: nfs1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.574 NFS1 John Christodoulou changed review comment from: Second paper reporting another family (consanguineous) with three affected children and supportive functional data.
Homozygous for the same missense variant - this family of Christian Arab descent; the family in the previous report of Mennonite background.
Suggests this is a mutation hotspot.; to: Second paper reporting another family (consanguineous) with three affected children and supportive functional data.
Homozygous for the same missense variant as reported in the 2014 paper - this family of Christian Arab descent; the family in the previous report of Mennonite background.
Suggests this is a mutation hotspot.
Mitochondrial disease v0.574 NFS1 John Christodoulou reviewed gene: NFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33457206; Phenotypes: progressive hypotonia, lactic acidosis, acute metabolic crises, liver dysfunction, increased CPK; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.574 SQOR Zornitza Stark Marked gene: SQOR as ready
Mitochondrial disease v0.574 SQOR Zornitza Stark Gene: sqor has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.574 SQOR Zornitza Stark Classified gene: SQOR as Amber List (moderate evidence)
Mitochondrial disease v0.574 SQOR Zornitza Stark Gene: sqor has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.573 SQOR Zornitza Stark Classified gene: SQOR as Amber List (moderate evidence)
Mitochondrial disease v0.573 SQOR Zornitza Stark Gene: sqor has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.572 SQOR Zornitza Stark gene: SQOR was added
gene: SQOR was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: SQOR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SQOR were set to 32160317
Phenotypes for gene: SQOR were set to Leigh-like disorder
Review for gene: SQOR was set to AMBER
Added comment: Two unrelated families and some functional data.
Sources: Literature
Mitochondrial disease v0.571 SDHD Zornitza Stark Marked gene: SDHD as ready
Mitochondrial disease v0.571 SDHD Zornitza Stark Gene: sdhd has been classified as Green List (High Evidence).
Mitochondrial disease v0.571 SDHD Zornitza Stark Phenotypes for gene: SDHD were changed from to Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167
Mitochondrial disease v0.570 SDHD Zornitza Stark Publications for gene: SDHD were set to
Mitochondrial disease v0.569 SDHD Zornitza Stark Mode of inheritance for gene: SDHD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.568 SDHD Zornitza Stark reviewed gene: SDHD: Rating: GREEN; Mode of pathogenicity: None; Publications: 24367056, 26008905; Phenotypes: Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.568 SDHAF1 Zornitza Stark Marked gene: SDHAF1 as ready
Mitochondrial disease v0.568 SDHAF1 Zornitza Stark Gene: sdhaf1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.568 SDHAF1 Zornitza Stark Phenotypes for gene: SDHAF1 were changed from to Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166
Mitochondrial disease v0.567 SDHAF1 Zornitza Stark Publications for gene: SDHAF1 were set to
Mitochondrial disease v0.566 SDHAF1 Zornitza Stark Mode of inheritance for gene: SDHAF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.565 SDHAF1 Zornitza Stark reviewed gene: SDHAF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19465911, 26749241, 22995659; Phenotypes: Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.565 NDUFC2 Zornitza Stark Marked gene: NDUFC2 as ready
Mitochondrial disease v0.565 NDUFC2 Zornitza Stark Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.565 NDUFC2 Zornitza Stark Classified gene: NDUFC2 as Amber List (moderate evidence)
Mitochondrial disease v0.565 NDUFC2 Zornitza Stark Gene: ndufc2 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.564 NDUFC2 Zornitza Stark gene: NDUFC2 was added
gene: NDUFC2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: NDUFC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFC2 were set to 32969598
Phenotypes for gene: NDUFC2 were set to Mitochondrial complex I deficiency, nuclear type 36, MIM# 619170
Review for gene: NDUFC2 was set to AMBER
Added comment: Mitochondrial complex I deficiency nuclear type 36 (MC1DN36) is an autosomal recessive metabolic disorder characterized by global developmental delay, hypotonia, and failure to thrive apparent from infancy or early childhood. Affected individuals usually do not acquire ambulation, show progressive spasticity, and have impaired intellectual development with absent speech. More variable features may include pale optic discs, poor eye contact, seizures, and congenital heart defects. Laboratory studies show increased serum lactate; metabolic acidosis may occur during stress or infection. Brain imaging shows T2-weighted abnormalities in the basal ganglia and brainstem, consistent with a clinical diagnosis of Leigh syndrome.

Two unrelated families reported, some functional data.
Sources: Expert list
Mitochondrial disease v0.563 PDSS1 Zornitza Stark Marked gene: PDSS1 as ready
Mitochondrial disease v0.563 PDSS1 Zornitza Stark Gene: pdss1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.563 PDSS1 Zornitza Stark Phenotypes for gene: PDSS1 were changed from to Coenzyme Q10 deficiency, primary, 2 MIM#614651
Mitochondrial disease v0.562 PDSS1 Zornitza Stark Publications for gene: PDSS1 were set to
Mitochondrial disease v0.561 PDSS1 Zornitza Stark Mode of inheritance for gene: PDSS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.560 PDSS1 Paul De Fazio reviewed gene: PDSS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17332895, 22494076, 33285023; Phenotypes: Coenzyme Q10 deficiency, primary, 2 MIM#614651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Mitochondrial disease v0.560 SHMT2 Zornitza Stark Phenotypes for gene: SHMT2 were changed from Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly to Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121; Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Mitochondrial disease v0.559 SHMT2 Zornitza Stark edited their review of gene: SHMT2: Changed phenotypes: Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121, Congenital microcephaly, Infantile axial hypotonia, Spastic paraparesis, Global developmental delay, Intellectual disability, Abnormality of the corpus callosum, Abnormal cortical gyration, Hypertrophic cardiomyopathy, Abnormality of the face, Proximal placement of thumb, 2-3 toe syndactyly
Mitochondrial disease v0.559 TARS2 Zornitza Stark Publications for gene: TARS2 were set to 24827421; 26811336
Mitochondrial disease v0.558 TARS2 Zornitza Stark edited their review of gene: TARS2: Added comment: Second family reported, single affected individual, compound het missense variants, computational data only in support of pathogenicity.; Changed publications: 24827421, 26811336, 33153448
Mitochondrial disease v0.558 COX16 Bryony Thompson Classified gene: COX16 as Amber List (moderate evidence)
Mitochondrial disease v0.558 COX16 Bryony Thompson Gene: cox16 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.557 COX16 Bryony Thompson Classified gene: COX16 as Amber List (moderate evidence)
Mitochondrial disease v0.557 COX16 Bryony Thompson Gene: cox16 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.556 COX16 Bryony Thompson Marked gene: COX16 as ready
Mitochondrial disease v0.556 COX16 Bryony Thompson Gene: cox16 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.556 COX16 Bryony Thompson gene: COX16 was added
gene: COX16 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: COX16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX16 were set to 33169484
Phenotypes for gene: COX16 were set to Hypertrophic cardiomyopathy; encephalopathy; severe fatal lactic acidosis
Review for gene: COX16 was set to AMBER
Added comment: 2 unrelated patients with the same homozygous (non-consanguineous) nonsense variant c.244C>T (p.Arg82*), and isolated complex IV deficiency present in both patient fibroblasts/skeletal muscle biopsy. COX16 is involved in the biogenesis of complex IV, the terminal complex of the mitochondrial respiratory chain.
Sources: Literature
Mitochondrial disease v0.555 NDUFB10 Zornitza Stark Publications for gene: NDUFB10 were set to 28040730; 32025618
Mitochondrial disease v0.554 NDUFB10 Zornitza Stark Classified gene: NDUFB10 as Green List (high evidence)
Mitochondrial disease v0.554 NDUFB10 Zornitza Stark Gene: ndufb10 has been classified as Green List (High Evidence).
Mitochondrial disease v0.553 NDUFB10 Zornitza Stark edited their review of gene: NDUFB10: Added comment: Second family reported, functional data, upgrade to Green.; Changed rating: GREEN; Changed publications: 33169436
Mitochondrial disease v0.553 ACAD9 Zornitza Stark Marked gene: ACAD9 as ready
Mitochondrial disease v0.553 ACAD9 Zornitza Stark Gene: acad9 has been classified as Green List (High Evidence).
Mitochondrial disease v0.553 ACAD9 Zornitza Stark Phenotypes for gene: ACAD9 were changed from to Mitochondrial complex I deficiency, nuclear type 20 MIM#611126
Mitochondrial disease v0.552 ACAD9 Zornitza Stark Publications for gene: ACAD9 were set to
Mitochondrial disease v0.551 ACAD9 Zornitza Stark Mode of inheritance for gene: ACAD9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.550 ACAD9 Zornitza Stark reviewed gene: ACAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 30025539; Phenotypes: Mitochondrial complex I deficiency, nuclear type 20 MIM#611126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.550 NDUFAF6 Zornitza Stark Marked gene: NDUFAF6 as ready
Mitochondrial disease v0.550 NDUFAF6 Zornitza Stark Gene: ndufaf6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.550 NDUFAF6 Zornitza Stark Phenotypes for gene: NDUFAF6 were changed from to Mitochondrial complex I deficiency, nuclear type 17 (MIM#618239)
Mitochondrial disease v0.549 NDUFAF6 Zornitza Stark Publications for gene: NDUFAF6 were set to
Mitochondrial disease v0.548 NDUFAF6 Zornitza Stark Mode of inheritance for gene: NDUFAF6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.547 NDUFAF6 Ain Roesley reviewed gene: NDUFAF6: Rating: GREEN; Mode of pathogenicity: None; Publications: 30642748; Phenotypes: Mitochondrial complex I deficiency, nuclear type 17 (MIM#618239); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.547 NDUFA4 Zornitza Stark edited their review of gene: NDUFA4: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065, Leigh syndrome, Complex IV deficiency
Mitochondrial disease v0.547 COX5A Zornitza Stark Phenotypes for gene: COX5A were changed from pulmonary arterial hypertension; lactic acidemia; failure to thrive; isolated complex IV deficiency to Mitochondrial complex IV deficiency, nuclear type 20, MIM#619064; pulmonary arterial hypertension; lactic acidemia; failure to thrive; isolated complex IV deficiency
Mitochondrial disease v0.546 COX5A Zornitza Stark reviewed gene: COX5A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 20, MIM#619064; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.546 PET117 Zornitza Stark Phenotypes for gene: PET117 were changed from Developmental delay to Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063; Developmental delay
Mitochondrial disease v0.545 PET117 Zornitza Stark reviewed gene: PET117: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.545 COX6A2 Zornitza Stark Phenotypes for gene: COX6A2 were changed from Mitochondrial complex IV deficiency, MIM# 220110 to Mitochondrial complex IV deficiency, nuclear type 18, MIM#619062
Mitochondrial disease v0.544 COX6A2 Zornitza Stark edited their review of gene: COX6A2: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 18, MIM#619062
Mitochondrial disease v0.544 APOPT1 Zornitza Stark Marked gene: APOPT1 as ready
Mitochondrial disease v0.544 APOPT1 Zornitza Stark Gene: apopt1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.544 APOPT1 Zornitza Stark Phenotypes for gene: APOPT1 were changed from to Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061
Mitochondrial disease v0.543 APOPT1 Zornitza Stark Publications for gene: APOPT1 were set to 25175347
Mitochondrial disease v0.542 APOPT1 Zornitza Stark Publications for gene: APOPT1 were set to 25175347]
Mitochondrial disease v0.542 APOPT1 Zornitza Stark Publications for gene: APOPT1 were set to 25175347]
Mitochondrial disease v0.541 APOPT1 Zornitza Stark Publications for gene: APOPT1 were set to
Mitochondrial disease v0.540 APOPT1 Zornitza Stark Mode of inheritance for gene: APOPT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.540 APOPT1 Zornitza Stark Mode of inheritance for gene: APOPT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.539 APOPT1 Zornitza Stark reviewed gene: APOPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25175347]; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 17, MIM#619061; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.539 COX4I1 Zornitza Stark Phenotypes for gene: COX4I1 were changed from short stature; mild dysmorphic features; Fanconi anemia to Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060; regression; seizures; short stature; mild dysmorphic features; Fanconi anemia
Mitochondrial disease v0.538 COX4I1 Zornitza Stark Publications for gene: COX4I1 were set to 28766551; 22592081
Mitochondrial disease v0.537 COX4I1 Zornitza Stark Classified gene: COX4I1 as Amber List (moderate evidence)
Mitochondrial disease v0.537 COX4I1 Zornitza Stark Gene: cox4i1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.536 COX4I1 Zornitza Stark edited their review of gene: COX4I1: Added comment: Further family with two affected sibs reported in PMID 31290619, upgrade to Amber.; Changed rating: AMBER; Changed publications: 28766551, 22592081, 31290619; Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060
Mitochondrial disease v0.536 COX8A Zornitza Stark Phenotypes for gene: COX8A were changed from Mitochondrial complex IV deficiency, MIM# 220110 to Mitochondrial complex IV deficiency, nuclear type 15, MIM#619059
Mitochondrial disease v0.535 COX8A Zornitza Stark edited their review of gene: COX8A: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 15, MIM#619059
Mitochondrial disease v0.535 COA3 Zornitza Stark Phenotypes for gene: COA3 were changed from Mitochondrial complex IV deficiency to Mitochondrial complex IV deficiency, nuclear type 14, MIM#619058
Mitochondrial disease v0.534 COA3 Zornitza Stark edited their review of gene: COA3: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 14, MIM# 619058
Mitochondrial disease v0.534 PET100 Zornitza Stark Marked gene: PET100 as ready
Mitochondrial disease v0.534 PET100 Zornitza Stark Gene: pet100 has been classified as Green List (High Evidence).
Mitochondrial disease v0.534 PET100 Zornitza Stark Phenotypes for gene: PET100 were changed from to Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055
Mitochondrial disease v0.533 PET100 Zornitza Stark Publications for gene: PET100 were set to
Mitochondrial disease v0.532 PET100 Zornitza Stark Mode of inheritance for gene: PET100 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.531 PET100 Zornitza Stark Tag founder tag was added to gene: PET100.
Mitochondrial disease v0.531 PET100 Zornitza Stark reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: None; Publications: 24462369, 25293719, 31406627; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.531 COX20 Zornitza Stark Marked gene: COX20 as ready
Mitochondrial disease v0.531 COX20 Zornitza Stark Gene: cox20 has been classified as Green List (High Evidence).
Mitochondrial disease v0.531 COX20 Zornitza Stark Phenotypes for gene: COX20 were changed from to Mitochondrial complex IV deficiency, nuclear type 11, MIM#619054
Mitochondrial disease v0.530 COX20 Zornitza Stark Publications for gene: COX20 were set to
Mitochondrial disease v0.529 COX20 Zornitza Stark Mode of inheritance for gene: COX20 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.528 COX20 Zornitza Stark reviewed gene: COX20: Rating: GREEN; Mode of pathogenicity: None; Publications: 24202787, 31079202, 30656193, 23125284, 32606554; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 11, MIM#619054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.528 COX14 Zornitza Stark Phenotypes for gene: COX14 were changed from Mitochondrial complex IV deficiency, MIM#220110 to Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053
Mitochondrial disease v0.527 COX14 Zornitza Stark edited their review of gene: COX14: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053
Mitochondrial disease v0.527 TACO1 Zornitza Stark Phenotypes for gene: TACO1 were changed from Mitochondrial complex IV deficiency; OMIM #220110 to Mitochondrial complex IV deficiency, nuclear type 8, MIM# 619052
Mitochondrial disease v0.526 TACO1 Zornitza Stark edited their review of gene: TACO1: Changed phenotypes: Mitochondrial complex IV deficiency, nuclear type 8, MIM# 619052
Mitochondrial disease v0.526 COX6B1 Zornitza Stark Marked gene: COX6B1 as ready
Mitochondrial disease v0.526 COX6B1 Zornitza Stark Gene: cox6b1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.526 COX6B1 Zornitza Stark Phenotypes for gene: COX6B1 were changed from to Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051
Mitochondrial disease v0.525 COX6B1 Zornitza Stark Publications for gene: COX6B1 were set to
Mitochondrial disease v0.524 COX6B1 Zornitza Stark Mode of inheritance for gene: COX6B1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.523 COX6B1 Zornitza Stark reviewed gene: COX6B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18499082, 24781756; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.523 SCO1 Zornitza Stark Marked gene: SCO1 as ready
Mitochondrial disease v0.523 SCO1 Zornitza Stark Gene: sco1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.523 SCO1 Zornitza Stark Phenotypes for gene: SCO1 were changed from to Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048
Mitochondrial disease v0.522 SCO1 Zornitza Stark Publications for gene: SCO1 were set to
Mitochondrial disease v0.521 SCO1 Zornitza Stark Mode of inheritance for gene: SCO1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.520 SCO1 Zornitza Stark reviewed gene: SCO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11013136, 19295170, 31352446, 23878101; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.520 COX10 Zornitza Stark Marked gene: COX10 as ready
Mitochondrial disease v0.520 COX10 Zornitza Stark Gene: cox10 has been classified as Green List (High Evidence).
Mitochondrial disease v0.520 COX10 Zornitza Stark Phenotypes for gene: COX10 were changed from to Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046
Mitochondrial disease v0.519 COX10 Zornitza Stark Publications for gene: COX10 were set to
Mitochondrial disease v0.518 COX10 Zornitza Stark Mode of inheritance for gene: COX10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.517 COX10 Zornitza Stark reviewed gene: COX10: Rating: GREEN; Mode of pathogenicity: None; Publications: 10767350, 12928484, 15455402, 27290639; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 3, MIM# 619046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.517 PTCD3 Zornitza Stark Phenotypes for gene: PTCD3 were changed from Mental retardation; optic atrophy; Leigh-like syndrome to Combined oxidative phosphorylation deficiency-51, MIM#619057; Mental retardation; optic atrophy; Leigh-like syndrome
Mitochondrial disease v0.516 PTCD3 Zornitza Stark reviewed gene: PTCD3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency-51, MIM#619057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.516 AARS2 Zornitza Stark Marked gene: AARS2 as ready
Mitochondrial disease v0.516 AARS2 Zornitza Stark Gene: aars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.516 GARS Zornitza Stark Marked gene: GARS as ready
Mitochondrial disease v0.516 GARS Zornitza Stark Added comment: Comment when marking as ready: New HGNC approved name is GARS1.
Mitochondrial disease v0.516 GARS Zornitza Stark Gene: gars has been classified as Green List (High Evidence).
Mitochondrial disease v0.516 GARS Zornitza Stark Tag new gene name tag was added to gene: GARS.
Mitochondrial disease v0.516 GARS Zornitza Stark Phenotypes for gene: GARS were changed from to Spinal muscular atrophy, infantile, James type, MIM# 619042; Charcot-Marie-Tooth disease, type 2D, MIM# 601472; Neuronopathy, distal hereditary motor, type VA, MIM# 600794; Multi-system mitochondrial disorder
Mitochondrial disease v0.515 GARS Zornitza Stark Publications for gene: GARS were set to
Mitochondrial disease v0.514 GARS Zornitza Stark Mode of inheritance for gene: GARS was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.513 GARS Zornitza Stark reviewed gene: GARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 17101916, 22462675, 31985473, 32181591, 12690580, 25168514, 26503042, 29648643, 16982418, 24669931, 28594869; Phenotypes: Spinal muscular atrophy, infantile, James type, MIM# 619042, Charcot-Marie-Tooth disease, type 2D, MIM# 601472, Neuronopathy, distal hereditary motor, type VA, MIM# 600794, Multi-system mitochondrial disorder; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.513 MICU1 Zornitza Stark Tag founder tag was added to gene: MICU1.
Mitochondrial disease v0.513 MICU1 Zornitza Stark Marked gene: MICU1 as ready
Mitochondrial disease v0.513 MICU1 Zornitza Stark Gene: micu1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.513 MICU1 Zornitza Stark Phenotypes for gene: MICU1 were changed from to Myopathy with extrapyramidal signs, MIM# 615673
Mitochondrial disease v0.512 MICU1 Zornitza Stark Publications for gene: MICU1 were set to
Mitochondrial disease v0.511 MICU1 Zornitza Stark Mode of inheritance for gene: MICU1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.510 MICU1 Zornitza Stark reviewed gene: MICU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24336167, 29721912, 32395406; Phenotypes: Myopathy with extrapyramidal signs, MIM# 615673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.510 SHMT2 Zornitza Stark Marked gene: SHMT2 as ready
Mitochondrial disease v0.510 SHMT2 Zornitza Stark Gene: shmt2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.510 SHMT2 Zornitza Stark Classified gene: SHMT2 as Green List (high evidence)
Mitochondrial disease v0.510 SHMT2 Zornitza Stark Gene: shmt2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.509 SHMT2 Zornitza Stark gene: SHMT2 was added
gene: SHMT2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHMT2 were set to 33015733
Phenotypes for gene: SHMT2 were set to Congenital microcephaly; Infantile axial hypotonia; Spastic paraparesis; Global developmental delay; Intellectual disability; Abnormality of the corpus callosum; Abnormal cortical gyration; Hypertrophic cardiomyopathy; Abnormality of the face; Proximal placement of thumb; 2-3 toe syndactyly
Review for gene: SHMT2 was set to GREEN
Added comment: García‑Cazorla et al. (2020 - PMID: 33015733) report 5 individuals (from 4 families) with a novel brain and heart developmental syndrome caused by biallelic SHMT2 pathogenic variants.

All affected subjects presented similar phenotype incl. microcephaly at birth (5/5 with OFC < -2 SD though in 2/5 cases N OFC was observed later), DD and ID (1/5 mild-moderate, 1/5 moderate, 3/5 severe), motor dysfunction in the form of spastic (5/5) paraparesis, ataxia/dysmetria (3/4), intention tremor (in 3/?) and/or peripheral neuropathy (2 sibs). They exhibited corpus callosum hypoplasia (5/5) and perisylvian microgyria-like pattern (4/5). Cardiac problems were reported in all, with hypertrophic cardiomyopathy in 4/5 (from 3 families) and atrial-SD in the 5th individual (1/5). Common dysmorphic features incl. long palpebral/fissures, eversion of lateral third of lower eylids, arched eyebrows, long eyelashes, thin upper lip, short Vth finger, fetal pads, mild 2-3 toe syndactyly, proximally placed thumbs.

Biallelic variants were identified following exome sequencing in all (other investigations not mentioned). Identified variants were in all cases missense SNVs or in-frame del, which together with evidence from population databases and mouse model might suggest a hypomorphic effect of variants and intolerance/embryonic lethality for homozygous LoF ones.

SHMT2 encodes the mitohondrial form of serine hydroxymethyltransferase. The enzyme transfers one-carbon units from serine to tetrahydrofolate (THF) and generates glycine and 5,10,methylene-THF.

Mitochondrial defect was suggested by presence of ragged red fibers in myocardial biopsy of one patient. Quadriceps and myocardial biopsies of the same individual were overall suggestive of myopathic changes.

While plasma metabolites were within N range and SHMT2 protein levels not significantly altered in patient fibroblasts, the authors provide evidence for impaired enzymatic function eg. presence of the SHMT2 substrate (THF) in patient but not control (mitochondria-enriched) fibroblasts , decrease in glycine/serine ratios, impared folate metabolism. Patient fibroblasts displayed impaired oxidative capacity (reduced ATP levels in a medium without glucose, diminished oxygen consumption rates). Mitochondrial membrane potential and ROS levels were also suggestive of redox malfunction.

Shmt2 ko in mice was previously shown to be embryonically lethal attributed to severe mitochondrial respiration defects, although there was no observed brain metabolic defect.

The authors performed Shmt2 knockdown in motoneurons in Drosophila, demonstrating neuromuscular junction (# of satellite boutons) and motility defects (climbing distance/velocity).
Sources: Literature
Mitochondrial disease v0.508 HPDL Zornitza Stark edited their review of gene: HPDL: Added comment: 17 individuals from 13 families, with a spectrum of neurologic impairment ranging from a severe congenital form without any neurological development (n = 2/17, 12%) to infantile-onset presentations (n = 10/17, 59%) with moderate to severe neurodevelopmental issues, partly with a pathology reminiscent of mitochondrial disease (Leigh-like syndrome), to juvenile-onset spastic paraplegia (n = 5/17, 29%).

Frequently observed clinical findings included chronic progression of neurological signs (n = 16/17, 94%), motor developmental delay (n = 12/17, 71%), intellectual impairment (n = 11/17, 65%), microcephaly (n = 9/16, 56%), and seizures/epilepsy (n = 9/17, 53%). Other relevant clinical findings were visual disturbances/strabismus (n = 9/17, 53%) and loss of developmental milestones (n = 6/17, 35%).

Acute central respiratory failure leading to life-threatening events requiring partly mechanically assisted ventilation occurred in half of individuals with infantile presentation (n = 5/10, 50%), respectively one third of all individuals (n = 5/17, 29%).

Demyelinating neuropathy was present in three individuals (n = 3/11, 27%), with reduced sensory nerve conduction velocity (NCV) in all and severely reduced motor NCV in one.; Changed publications: 32707086; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.508 HPDL Zornitza Stark Phenotypes for gene: HPDL were changed from Progressive neurological disorder; Leigh-like syndrome to Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026; Progressive neurological disorder; Leigh-like syndrome
Mitochondrial disease v0.507 HPDL Zornitza Stark edited their review of gene: HPDL: Changed rating: GREEN; Changed phenotypes: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026
Mitochondrial disease v0.507 COQ5 Zornitza Stark Phenotypes for gene: COQ5 were changed from Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability to Coenzyme Q10 deficiency, primary 9, MIM#619028; Cerebellar ataxia; encephalopathy; generalized tonic-clonic seizures; intellectual disability
Mitochondrial disease v0.506 COQ5 Zornitza Stark edited their review of gene: COQ5: Changed phenotypes: Coenzyme Q10 deficiency, primary 9, MIM#619028, Cerebellar ataxia, encephalopathy, generalized tonic-clonic seizures, intellectual disability
Mitochondrial disease v0.506 MIEF2 Zornitza Stark Phenotypes for gene: MIEF2 were changed from Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency to Combined oxidative phosphorylation deficiency 49, MIM# 619024; Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency
Mitochondrial disease v0.505 MRPS25 Zornitza Stark Phenotypes for gene: MRPS25 were changed from Dyskinetic cerebral palsy; Mitochondrial myopathy; Partial agenesis of the corpus callosum to Combined oxidative phosphorylation deficiency 50, MIM# 619025; Dyskinetic cerebral palsy; Mitochondrial myopathy; Partial agenesis of the corpus callosum
Mitochondrial disease v0.504 MRPS25 Zornitza Stark edited their review of gene: MRPS25: Changed phenotypes: Combined oxidative phosphorylation deficiency 50, MIM# 619025, Dyskinetic cerebral palsy, Mitochondrial myopathy, Partial agenesis of the corpus callosum
Mitochondrial disease v0.504 MIEF2 Zornitza Stark edited their review of gene: MIEF2: Changed phenotypes: Combined oxidative phosphorylation deficiency 49, MIM# 619024, Progressive muscle weakness, Exercise intolerance, Ragged red and COX negative fibres, Complex I and IV deficiency
Mitochondrial disease v0.504 NDUFV2 Zornitza Stark Marked gene: NDUFV2 as ready
Mitochondrial disease v0.504 NDUFV2 Zornitza Stark Gene: ndufv2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.504 NDUFV2 Zornitza Stark Tag deep intronic tag was added to gene: NDUFV2.
Tag founder tag was added to gene: NDUFV2.
Mitochondrial disease v0.504 NDUFV2 Zornitza Stark Mode of inheritance for gene: NDUFV2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.503 NDUFV2 Zornitza Stark Phenotypes for gene: NDUFV2 were changed from to Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229)
Mitochondrial disease v0.502 NDUFV2 Zornitza Stark Publications for gene: NDUFV2 were set to
Mitochondrial disease v0.502 NDUFV2 Zornitza Stark Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.501 NDUFV2 Zornitza Stark reviewed gene: NDUFV2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.501 IBA57 Zornitza Stark Marked gene: IBA57 as ready
Mitochondrial disease v0.501 IBA57 Zornitza Stark Gene: iba57 has been classified as Green List (High Evidence).
Mitochondrial disease v0.501 IBA57 Zornitza Stark Phenotypes for gene: IBA57 were changed from to Multiple mitochondrial dysfunctions syndrome 3, MIM# 615330
Mitochondrial disease v0.500 IBA57 Zornitza Stark Publications for gene: IBA57 were set to
Mitochondrial disease v0.499 IBA57 Zornitza Stark Mode of inheritance for gene: IBA57 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.498 IBA57 Zornitza Stark reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: None; Publications: 23462291, 25971455, 27785568, 28671726, 28913435; Phenotypes: Multiple mitochondrial dysfunctions syndrome 3, MIM# 615330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.498 NDUFV2 Ain Roesley reviewed gene: NDUFV2: Rating: AMBER; Mode of pathogenicity: None; Publications: 12754703, 19167255, 26008862; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.498 NSUN3 Zornitza Stark Phenotypes for gene: NSUN3 were changed from combined mitochondrial respiratory chain complex deficiency to Combined oxidative phosphorylation deficiency 48, MIM# 619012
Mitochondrial disease v0.497 NSUN3 Zornitza Stark Publications for gene: NSUN3 were set to 27356879
Mitochondrial disease v0.496 NSUN3 Zornitza Stark reviewed gene: NSUN3: Rating: AMBER; Mode of pathogenicity: None; Publications: 27356879, 32488845; Phenotypes: Combined oxidative phosphorylation deficiency 48, MIM# 619012; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.496 NAXE Zornitza Stark Marked gene: NAXE as ready
Mitochondrial disease v0.496 NAXE Zornitza Stark Gene: naxe has been classified as Green List (High Evidence).
Mitochondrial disease v0.496 NAXE Zornitza Stark Phenotypes for gene: NAXE were changed from to Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186
Mitochondrial disease v0.495 NAXE Zornitza Stark Publications for gene: NAXE were set to
Mitochondrial disease v0.494 NAXE Zornitza Stark Mode of inheritance for gene: NAXE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.493 NAXE Zornitza Stark commented on gene: NAXE: Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. More than 5 unrelated families reported.
Mitochondrial disease v0.493 NAXE Zornitza Stark reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27122014, 27616477, 31758406; Phenotypes: Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.493 ISCA2 Zornitza Stark Marked gene: ISCA2 as ready
Mitochondrial disease v0.493 ISCA2 Zornitza Stark Gene: isca2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.493 ISCA2 Zornitza Stark Phenotypes for gene: ISCA2 were changed from to Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370
Mitochondrial disease v0.492 ISCA2 Zornitza Stark Publications for gene: ISCA2 were set to
Mitochondrial disease v0.491 ISCA2 Zornitza Stark Mode of inheritance for gene: ISCA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.490 ISCA2 Zornitza Stark reviewed gene: ISCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25539947, 29297947, 29122497, 29359243; Phenotypes: Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.490 SLC25A46 Zornitza Stark Marked gene: SLC25A46 as ready
Mitochondrial disease v0.490 SLC25A46 Zornitza Stark Gene: slc25a46 has been classified as Green List (High Evidence).
Mitochondrial disease v0.490 SLC25A46 Zornitza Stark Phenotypes for gene: SLC25A46 were changed from to Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505
Mitochondrial disease v0.489 SLC25A46 Zornitza Stark Publications for gene: SLC25A46 were set to
Mitochondrial disease v0.488 SLC25A46 Zornitza Stark Mode of inheritance for gene: SLC25A46 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.487 SLC25A46 Zornitza Stark reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: None; Publications: 30178502, 26168012, 27543974, 27430653, 27390132, 28934388, 28558379; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.487 HARS2 Zornitza Stark Marked gene: HARS2 as ready
Mitochondrial disease v0.487 HARS2 Zornitza Stark Gene: hars2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.487 HARS2 Zornitza Stark Phenotypes for gene: HARS2 were changed from to Perrault syndrome 2, MIM# 614926
Mitochondrial disease v0.486 HARS2 Zornitza Stark Publications for gene: HARS2 were set to
Mitochondrial disease v0.485 HARS2 Zornitza Stark Mode of inheritance for gene: HARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.484 HARS2 Zornitza Stark reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31827252; Phenotypes: Perrault syndrome 2, MIM# 614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.484 PNPLA8 Zornitza Stark Marked gene: PNPLA8 as ready
Mitochondrial disease v0.484 PNPLA8 Zornitza Stark Gene: pnpla8 has been classified as Green List (High Evidence).
Mitochondrial disease v0.484 PNPLA8 Zornitza Stark Phenotypes for gene: PNPLA8 were changed from to Mitochondrial myopathy with lactic acidosis (MIM#251950), AR
Mitochondrial disease v0.483 PNPLA8 Zornitza Stark Publications for gene: PNPLA8 were set to
Mitochondrial disease v0.482 PNPLA8 Zornitza Stark Mode of inheritance for gene: PNPLA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.481 PNPLA8 Zornitza Stark reviewed gene: PNPLA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 29681094, 25512002; Phenotypes: Mitochondrial myopathy with lactic acidosis (MIM#251950), AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.481 NDUFB10 Zornitza Stark Phenotypes for gene: NDUFB10 were changed from fatal infantile lactic acidosis; cardiomyopathy to fatal infantile lactic acidosis; cardiomyopathy; Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003
Mitochondrial disease v0.480 NDUFB10 Zornitza Stark reviewed gene: NDUFB10: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.480 SSBP1 Zornitza Stark Phenotypes for gene: SSBP1 were changed from Optic atrophy with or without extraocular phenotypes to Optic atrophy with or without extraocular phenotypes; Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510
Mitochondrial disease v0.479 SSBP1 Zornitza Stark reviewed gene: SSBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510; Mode of inheritance: None
Mitochondrial disease v0.479 IDH3A Zornitza Stark Phenotypes for gene: IDH3A were changed from Retinitis pigmentosa to Retinitis pigmentosa 90, MIM#619007
Mitochondrial disease v0.478 IDH3A Zornitza Stark edited their review of gene: IDH3A: Changed phenotypes: Retinitis pigmentosa 90, MIM#619007
Mitochondrial disease v0.478 TRIT1 Zornitza Stark Phenotypes for gene: TRIT1 were changed from to Combined oxidative phosphorylation deficiency 35, MIM#617873
Mitochondrial disease v0.477 TRIT1 Zornitza Stark Publications for gene: TRIT1 were set to
Mitochondrial disease v0.476 TRIT1 Zornitza Stark Mode of inheritance for gene: TRIT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.475 TRIT1 Zornitza Stark reviewed gene: TRIT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32088416, 24901367, 28185376, 30977854; Phenotypes: Combined oxidative phosphorylation deficiency 35, MIM#617873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.475 CHCHD10 Zornitza Stark Marked gene: CHCHD10 as ready
Mitochondrial disease v0.475 CHCHD10 Zornitza Stark Gene: chchd10 has been classified as Green List (High Evidence).
Mitochondrial disease v0.475 CHCHD10 Zornitza Stark Phenotypes for gene: CHCHD10 were changed from to Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911; Spinal muscular atrophy, Jokela type 615048; Myopathy, isolated mitochondrial, autosomal dominant 616209
Mitochondrial disease v0.474 CHCHD10 Zornitza Stark Publications for gene: CHCHD10 were set to
Mitochondrial disease v0.473 CHCHD10 Zornitza Stark Mode of pathogenicity for gene: CHCHD10 was changed from to Other
Mitochondrial disease v0.472 CHCHD10 Zornitza Stark Mode of inheritance for gene: CHCHD10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.471 CHCHD10 Zornitza Stark Tag founder tag was added to gene: CHCHD10.
Mitochondrial disease v0.471 CHCHD10 Zornitza Stark reviewed gene: CHCHD10: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24934289, 25428574, 25193783, 32042922, 31690696, 30877432, 30874923, 31261376; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911, Spinal muscular atrophy, Jokela type 615048, Myopathy, isolated mitochondrial, autosomal dominant 616209; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mitochondrial disease v0.471 CA5A Zornitza Stark Tag SV/CNV tag was added to gene: CA5A.
Mitochondrial disease v0.471 AARS2 Zornitza Stark Phenotypes for gene: AARS2 were changed from to Combined oxidative phosphorylation deficiency 8 MIM#614096; Leukoencephalopathy, progressive, with ovarian failure MIM#615889; MONDO:0013570
Mitochondrial disease v0.470 AARS2 Zornitza Stark Publications for gene: AARS2 were set to
Mitochondrial disease v0.469 AARS2 Zornitza Stark Mode of inheritance for gene: AARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.468 AARS2 Zornitza Stark reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30706699, 27839525, 21549344, 25058219, 24808023; Phenotypes: Combined oxidative phosphorylation deficiency 8 MIM#614096, Leukoencephalopathy, progressive, with ovarian failure MIM#615889, MONDO:0013570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.468 MRPL44 Zornitza Stark Marked gene: MRPL44 as ready
Mitochondrial disease v0.468 MRPL44 Zornitza Stark Gene: mrpl44 has been classified as Green List (High Evidence).
Mitochondrial disease v0.468 MRPL44 Zornitza Stark Phenotypes for gene: MRPL44 were changed from to Combined oxidative phosphorylation deficiency 16, MIM# 615395
Mitochondrial disease v0.467 MRPL44 Zornitza Stark Publications for gene: MRPL44 were set to
Mitochondrial disease v0.466 MRPL44 Zornitza Stark Mode of inheritance for gene: MRPL44 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.465 MRPL44 Zornitza Stark edited their review of gene: MRPL44: Changed rating: GREEN
Mitochondrial disease v0.465 MRPL44 Zornitza Stark reviewed gene: MRPL44: Rating: ; Mode of pathogenicity: None; Publications: 23315540, 25797485; Phenotypes: Combined oxidative phosphorylation deficiency 16, MIM# 615395; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.465 NDUFA13 Zornitza Stark Publications for gene: NDUFA13 were set to 25901006
Mitochondrial disease v0.464 NDUFA13 Zornitza Stark Classified gene: NDUFA13 as Amber List (moderate evidence)
Mitochondrial disease v0.464 NDUFA13 Zornitza Stark Gene: ndufa13 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.463 NDUFA13 Zornitza Stark edited their review of gene: NDUFA13: Added comment: Second family reported with some supportive functional data.; Changed rating: AMBER; Changed publications: 25901006, 32722639
Mitochondrial disease v0.463 ABAT Zornitza Stark Marked gene: ABAT as ready
Mitochondrial disease v0.463 ABAT Zornitza Stark Gene: abat has been classified as Green List (High Evidence).
Mitochondrial disease v0.463 ABAT Zornitza Stark Phenotypes for gene: ABAT were changed from to mtDNA depletion syndrome (MDS)
Mitochondrial disease v0.462 ABAT Zornitza Stark Publications for gene: ABAT were set to
Mitochondrial disease v0.461 ABAT Zornitza Stark Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.460 ABAT Zornitza Stark reviewed gene: ABAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 25738457, 27903293; Phenotypes: mtDNA depletion syndrome (MDS); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.460 MT-RNR2 Zornitza Stark Marked gene: MT-RNR2 as ready
Mitochondrial disease v0.460 MT-RNR2 Zornitza Stark Gene: mt-rnr2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.460 MT-RNR2 Zornitza Stark Classified gene: MT-RNR2 as Red List (low evidence)
Mitochondrial disease v0.460 MT-RNR2 Zornitza Stark Gene: mt-rnr2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.459 MT-RNR2 Chern Lim gene: MT-RNR2 was added
gene: MT-RNR2 was added to Mitochondrial disease. Sources: Expert Review,Literature
Mode of inheritance for gene gene: MT-RNR2 was set to MITOCHONDRIAL
Publications for gene: MT-RNR2 were set to 29233888
Review for gene: MT-RNR2 was set to RED
Added comment: Disease association not established (PMID:29233888 and in-house expert review).
Sources: Expert Review, Literature
Mitochondrial disease v0.459 SLC25A10 Zornitza Stark Phenotypes for gene: SLC25A10 were changed from Intractable epileptic encephalopathy to Intractable epileptic encephalopathy; Mitochondrial DNA depletion syndrome 19, MIM# 618972
Mitochondrial disease v0.458 SLC25A10 Zornitza Stark reviewed gene: SLC25A10: Rating: AMBER; Mode of pathogenicity: None; Publications: 29211846; Phenotypes: Mitochondrial DNA depletion syndrome 19, MIM# 618972; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.458 NDUFA8 Zornitza Stark Marked gene: NDUFA8 as ready
Mitochondrial disease v0.458 NDUFA8 Zornitza Stark Gene: ndufa8 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.458 NDUFA8 Zornitza Stark gene: NDUFA8 was added
gene: NDUFA8 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: NDUFA8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA8 were set to 32385911
Phenotypes for gene: NDUFA8 were set to NDUFA8-related mitochondrial disease; Developmental delay; microcehaly; seizures
Review for gene: NDUFA8 was set to RED
Added comment: Single individual reported with homozygous variant, fibroblasts showed apparent biochemical defects in mitochondrial complex I.
Sources: Literature
Mitochondrial disease v0.457 HPDL Zornitza Stark Phenotypes for gene: HPDL were changed from Progressive neurological disorder to Progressive neurological disorder; Leigh-like syndrome
Mitochondrial disease v0.456 HPDL Zornitza Stark Marked gene: HPDL as ready
Mitochondrial disease v0.456 HPDL Zornitza Stark Added comment: Comment when marking as ready: Leigh-like phenotype, HPDL has a mitochondrial localization signal and consequently localizes to mitochondria suggesting a putative role in mitochondrial metabolism.
Mitochondrial disease v0.456 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Mitochondrial disease v0.456 HPDL Zornitza Stark Classified gene: HPDL as Green List (high evidence)
Mitochondrial disease v0.456 HPDL Zornitza Stark Gene: hpdl has been classified as Green List (High Evidence).
Mitochondrial disease v0.455 HPDL Crystle Lee gene: HPDL was added
gene: HPDL was added to Mitochondrial disease. Sources: Expert Review
Mode of inheritance for gene: HPDL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPDL were set to 32707086
Phenotypes for gene: HPDL were set to Progressive neurological disorder
Review for gene: HPDL was set to GREEN
Added comment: Biallelic variants reported in 13 families with a neurodegenerative disease ranging from neonatal encephalopathy to adolescent-onset spastic paraplegia
Sources: Expert Review
Mitochondrial disease v0.455 MRPS28 Zornitza Stark Phenotypes for gene: MRPS28 were changed from Intrauterine growth retardation; developmental delay; dysmorphism to Intrauterine growth retardation; developmental delay; dysmorphism; Combined oxidative phosphorylation deficiency 47, MIM618958
Mitochondrial disease v0.454 MRPS28 Zornitza Stark edited their review of gene: MRPS28: Changed phenotypes: Intrauterine growth retardation, developmental delay, dysmorphism, Combined oxidative phosphorylation deficiency 47, MIM618958
Mitochondrial disease v0.454 MRPS23 Zornitza Stark Phenotypes for gene: MRPS23 were changed from Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities to Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities; Combined oxidative phosphorylation deficiency 46, MIM618952
Mitochondrial disease v0.453 MRPS23 Zornitza Stark edited their review of gene: MRPS23: Changed phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies, Cardiomyopathy, Tubulopathy, Lactic acidosis, Structural brain abnormalities, Combined oxidative phosphorylation deficiency 46, MIM618952
Mitochondrial disease v0.453 MRPL12 Zornitza Stark Phenotypes for gene: MRPL12 were changed from Growth retardation; neurological deterioration; mitochondrial translation deficiency to Growth retardation; neurological deterioration; mitochondrial translation deficiency; Combined oxidative phosphorylation deficiency 45, MIM#618951
Mitochondrial disease v0.452 MRPL12 Zornitza Stark edited their review of gene: MRPL12: Changed phenotypes: Growth retardation, neurological deterioration, mitochondrial translation deficiency, Combined oxidative phosphorylation deficiency 45, MIM#618951
Mitochondrial disease v0.452 TWNK Zornitza Stark Marked gene: TWNK as ready
Mitochondrial disease v0.452 TWNK Zornitza Stark Gene: twnk has been classified as Green List (High Evidence).
Mitochondrial disease v0.452 TWNK Zornitza Stark Phenotypes for gene: TWNK were changed from to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245; Perrault syndrome 5 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286
Mitochondrial disease v0.451 TWNK Zornitza Stark Publications for gene: TWNK were set to
Mitochondrial disease v0.450 TWNK Zornitza Stark Mode of inheritance for gene: TWNK was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.449 TWNK Zornitza Stark reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 32234020, 18593709; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245, Perrault syndrome 5 616138, Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.449 MT-CO3 Zornitza Stark Marked gene: MT-CO3 as ready
Mitochondrial disease v0.449 MT-CO3 Zornitza Stark Gene: mt-co3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.449 MT-CO3 Zornitza Stark Classified gene: MT-CO3 as Green List (high evidence)
Mitochondrial disease v0.449 MT-CO3 Zornitza Stark Gene: mt-co3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.448 MT-CO3 Chern Lim gene: MT-CO3 was added
gene: MT-CO3 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene gene: MT-CO3 was set to MITOCHONDRIAL
Publications for gene: MT-CO3 were set to 20525945; 9634511; 11063732; 12414820
Phenotypes for gene: MT-CO3 were set to Leigh syndrome; Leigh-like syndrome; Myopathy; Encephalopathy and myopathy
Review for gene: MT-CO3 was set to GREEN
gene: MT-CO3 was marked as current diagnostic
Added comment: Reported in at least 3 unrelated families (PMIDs: 20525945, 9634511, 11063732, 12414820).
Sources: Literature
Mitochondrial disease v0.448 TOMM70 Zornitza Stark Publications for gene: TOMM70 were set to
Mitochondrial disease v0.447 TOMM70 Zornitza Stark edited their review of gene: TOMM70: Changed publications: 31907385
Mitochondrial disease v0.447 TOMM70 Zornitza Stark Marked gene: TOMM70 as ready
Mitochondrial disease v0.447 TOMM70 Zornitza Stark Gene: tomm70 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.447 TOMM70 Zornitza Stark Classified gene: TOMM70 as Amber List (moderate evidence)
Mitochondrial disease v0.447 TOMM70 Zornitza Stark Gene: tomm70 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.446 TOMM70 Zornitza Stark gene: TOMM70 was added
gene: TOMM70 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: TOMM70 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TOMM70 were set to Severe anaemia; Lactic acidosis; Developmental delay
Review for gene: TOMM70 was set to AMBER
Added comment: TOM70 is a member of the TOM complex that transports cytosolic proteins into mitochondria. One individual reported with compound heterozygous variants in TOMM70 [c.794C>T (p.T265M) and c.1745C>T (p.A582V)]. Clinical features included severe anaemia, lactic acidosis, and developmental delay. Some functional data: in vitro cell model compensatory experiments.
Sources: Literature
Mitochondrial disease v0.445 NDUFS7 Ain Roesley reviewed gene: NDUFS7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22644603; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 (MIM# 618224); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.445 ATP5E Zornitza Stark Marked gene: ATP5E as ready
Mitochondrial disease v0.445 ATP5E Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name ATP5F1E.
Mitochondrial disease v0.445 ATP5E Zornitza Stark Gene: atp5e has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.445 ATP5E Zornitza Stark Tag new gene name tag was added to gene: ATP5E.
Mitochondrial disease v0.445 ATP5D Zornitza Stark Marked gene: ATP5D as ready
Mitochondrial disease v0.445 ATP5D Zornitza Stark Gene: atp5d has been classified as Green List (High Evidence).
Mitochondrial disease v0.445 ATP5D Zornitza Stark Phenotypes for gene: ATP5D were changed from to Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120
Mitochondrial disease v0.444 ATP5D Zornitza Stark Publications for gene: ATP5D were set to
Mitochondrial disease v0.443 ATP5D Zornitza Stark Mode of inheritance for gene: ATP5D was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.443 ATP5D Zornitza Stark Mode of inheritance for gene: ATP5D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.442 ATP5D Zornitza Stark Tag new gene name tag was added to gene: ATP5D.
Mitochondrial disease v0.442 ATP5D Zornitza Stark reviewed gene: ATP5D: Rating: GREEN; Mode of pathogenicity: None; Publications: 29478781; Phenotypes: Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.442 ATP5A1 Zornitza Stark Marked gene: ATP5A1 as ready
Mitochondrial disease v0.442 ATP5A1 Zornitza Stark Added comment: Comment when marking as ready: HGNC approved name: ATP5F1A
Mitochondrial disease v0.442 ATP5A1 Zornitza Stark Gene: atp5a1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.442 ATP5A1 Zornitza Stark Tag new gene name tag was added to gene: ATP5A1.
Mitochondrial disease v0.442 DNM2 Kristin Rigbye commented on gene: DNM2
Mitochondrial disease v0.442 ATAD3A Zornitza Stark Phenotypes for gene: ATAD3A were changed from Harel-Yoon syndrome, MIM# 617183 to Harel-Yoon syndrome, MIM# 617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810
Mitochondrial disease v0.441 ATAD3A Zornitza Stark Publications for gene: ATAD3A were set to 27640307; 32004445
Mitochondrial disease v0.440 ATAD3A Zornitza Stark Mode of pathogenicity for gene: ATAD3A was changed from to Other
Mitochondrial disease v0.439 GDAP1 Kristin Rigbye reviewed gene: GDAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Mitochondrial disease v0.439 ATAD3A David Thorburn reviewed gene: ATAD3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28549128; Phenotypes: Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME) 618810; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.438 GMPR Zornitza Stark Marked gene: GMPR as ready
Mitochondrial disease v0.438 GMPR Zornitza Stark Gene: gmpr has been classified as Red List (Low Evidence).
Mitochondrial disease v0.438 CRAT Zornitza Stark Marked gene: CRAT as ready
Mitochondrial disease v0.438 CRAT Zornitza Stark Gene: crat has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.438 CRAT Zornitza Stark Classified gene: CRAT as Amber List (moderate evidence)
Mitochondrial disease v0.438 CRAT Zornitza Stark Gene: crat has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.437 CRAT Zornitza Stark gene: CRAT was added
gene: CRAT was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: CRAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRAT were set to 29395073; 31448845
Phenotypes for gene: CRAT were set to Neurodegeneration with brain iron accumulation 8, MIM# 617917; Leigh syndrome
Review for gene: CRAT was set to AMBER
Added comment: Two unrelated families reported with bi-allelic variants, one with NBIA and one with Leigh syndrome phenotype.
Sources: Literature
Mitochondrial disease v0.436 GMPR Bryony Thompson Classified gene: GMPR as Red List (low evidence)
Mitochondrial disease v0.436 GMPR Bryony Thompson Added comment: Comment on list classification: Insufficient evidence currently.
Mitochondrial disease v0.436 GMPR Bryony Thompson Gene: gmpr has been classified as Red List (Low Evidence).
Mitochondrial disease v0.435 GMPR Bryony Thompson gene: GMPR was added
gene: GMPR was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: GMPR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GMPR were set to 31600844
Phenotypes for gene: GMPR were set to progressive external ophthalmoplegia
Review for gene: GMPR was set to AMBER
Added comment: A heterozygous missense was identified in a case with late-onset adPEO and multiple mtDNA deletions in the cases skeletal muscle. GMPR deficiency was confirmed, but marked defects of mtDNA replication or nucleotide homeostasis was not demonstrated in patient cells. No other functional assays conducted.
Sources: Literature
Mitochondrial disease v0.434 CHCHD2 Zornitza Stark Marked gene: CHCHD2 as ready
Mitochondrial disease v0.434 CHCHD2 Zornitza Stark Gene: chchd2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.434 IDH3A Zornitza Stark Marked gene: IDH3A as ready
Mitochondrial disease v0.434 IDH3A Zornitza Stark Gene: idh3a has been classified as Green List (High Evidence).
Mitochondrial disease v0.434 PITRM1 Zornitza Stark Marked gene: PITRM1 as ready
Mitochondrial disease v0.434 PITRM1 Zornitza Stark Gene: pitrm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.434 SLC22A5 Zornitza Stark Marked gene: SLC22A5 as ready
Mitochondrial disease v0.434 SLC22A5 Zornitza Stark Gene: slc22a5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.434 NSUN3 Zornitza Stark Marked gene: NSUN3 as ready
Mitochondrial disease v0.434 NSUN3 Zornitza Stark Gene: nsun3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 OXA1L Zornitza Stark Marked gene: OXA1L as ready
Mitochondrial disease v0.434 OXA1L Zornitza Stark Gene: oxa1l has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 PTCD3 Zornitza Stark Marked gene: PTCD3 as ready
Mitochondrial disease v0.434 PTCD3 Zornitza Stark Gene: ptcd3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 SLC25A10 Zornitza Stark Marked gene: SLC25A10 as ready
Mitochondrial disease v0.434 SLC25A10 Zornitza Stark Gene: slc25a10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 TIMMDC1 Zornitza Stark Marked gene: TIMMDC1 as ready
Mitochondrial disease v0.434 TIMMDC1 Zornitza Stark Gene: timmdc1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 TIMM22 Zornitza Stark Marked gene: TIMM22 as ready
Mitochondrial disease v0.434 TIMM22 Zornitza Stark Gene: timm22 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 TMEM65 Zornitza Stark Marked gene: TMEM65 as ready
Mitochondrial disease v0.434 TMEM65 Zornitza Stark Gene: tmem65 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 USMG5 Zornitza Stark Marked gene: USMG5 as ready
Mitochondrial disease v0.434 USMG5 Zornitza Stark Gene: usmg5 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.434 CISD2 Zornitza Stark Marked gene: CISD2 as ready
Mitochondrial disease v0.434 CISD2 Zornitza Stark Gene: cisd2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.434 CISD2 Zornitza Stark Classified gene: CISD2 as Green List (high evidence)
Mitochondrial disease v0.434 CISD2 Zornitza Stark Gene: cisd2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.433 COX5A Zornitza Stark Marked gene: COX5A as ready
Mitochondrial disease v0.433 COX5A Zornitza Stark Gene: cox5a has been classified as Red List (Low Evidence).
Mitochondrial disease v0.433 KIF5A Zornitza Stark Marked gene: KIF5A as ready
Mitochondrial disease v0.433 KIF5A Zornitza Stark Gene: kif5a has been classified as Red List (Low Evidence).
Mitochondrial disease v0.433 KIF5A Zornitza Stark Classified gene: KIF5A as Red List (low evidence)
Mitochondrial disease v0.433 KIF5A Zornitza Stark Gene: kif5a has been classified as Red List (Low Evidence).
Mitochondrial disease v0.432 KIF5A Zornitza Stark Classified gene: KIF5A as Amber List (moderate evidence)
Mitochondrial disease v0.432 KIF5A Zornitza Stark Gene: kif5a has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.431 PET117 Zornitza Stark Marked gene: PET117 as ready
Mitochondrial disease v0.431 PET117 Zornitza Stark Gene: pet117 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.431 PTCD1 Zornitza Stark Marked gene: PTCD1 as ready
Mitochondrial disease v0.431 PTCD1 Zornitza Stark Gene: ptcd1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.431 COX4I1 Zornitza Stark Marked gene: COX4I1 as ready
Mitochondrial disease v0.431 COX4I1 Zornitza Stark Gene: cox4i1 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.431 COX4I1 Zornitza Stark Publications for gene: COX4I1 were set to 28766551
Mitochondrial disease v0.430 COX4I1 Zornitza Stark changed review comment from: Two more variants reported in PMID: 22592081: one is non-coding and the other rare missense, appear to have been identified in separate individuals.; to: Two more variants reported in PMID: 22592081: one is non-coding and the other rare missense, appear to have been identified in separate individuals, i.e. heterozygous in each individual.
Mitochondrial disease v0.430 MT-TS2 Zornitza Stark Tag mtDNA tag was added to gene: MT-TS2.
Mitochondrial disease v0.430 MT-TK Zornitza Stark Tag mtDNA tag was added to gene: MT-TK.
Mitochondrial disease v0.430 MT-TE Zornitza Stark Tag mtDNA tag was added to gene: MT-TE.
Mitochondrial disease v0.430 MT-TC Zornitza Stark Tag mtDNA tag was added to gene: MT-TC.
Mitochondrial disease v0.430 MT-RNR1 Zornitza Stark Tag mtDNA tag was added to gene: MT-RNR1.
Mitochondrial disease v0.430 MT-ND6 Zornitza Stark Tag mtDNA tag was added to gene: MT-ND6.
Mitochondrial disease v0.430 MT-ND4L Zornitza Stark Tag mtDNA tag was added to gene: MT-ND4L.
Mitochondrial disease v0.430 MT-ND2 Zornitza Stark Tag mtDNA tag was added to gene: MT-ND2.
Mitochondrial disease v0.430 MT-ATP8 Zornitza Stark Tag mtDNA tag was added to gene: MT-ATP8.
Mitochondrial disease v0.430 MT-TY Zornitza Stark Marked gene: MT-TY as ready
Mitochondrial disease v0.430 MT-TY Zornitza Stark Gene: mt-ty has been classified as Green List (High Evidence).
Mitochondrial disease v0.430 MT-TY Zornitza Stark Tag somatic tag was added to gene: MT-TY.
Tag mtDNA tag was added to gene: MT-TY.
Mitochondrial disease v0.430 MT-TY Zornitza Stark Classified gene: MT-TY as Green List (high evidence)
Mitochondrial disease v0.430 MT-TY Zornitza Stark Gene: mt-ty has been classified as Green List (High Evidence).
Mitochondrial disease v0.429 MT-TY Zornitza Stark gene: MT-TY was added
gene: MT-TY was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TY was set to MITOCHONDRIAL
Phenotypes for gene: MT-TY were set to Progressive external ophthalmoplegia; Cardiomyopathy; Myopathy
Review for gene: MT-TY was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.428 MT-TW Zornitza Stark Marked gene: MT-TW as ready
Mitochondrial disease v0.428 MT-TW Zornitza Stark Gene: mt-tw has been classified as Green List (High Evidence).
Mitochondrial disease v0.428 MT-TW Zornitza Stark Tag mtDNA tag was added to gene: MT-TW.
Mitochondrial disease v0.428 MT-TW Zornitza Stark Classified gene: MT-TW as Green List (high evidence)
Mitochondrial disease v0.428 MT-TW Zornitza Stark Gene: mt-tw has been classified as Green List (High Evidence).
Mitochondrial disease v0.427 MT-TW Zornitza Stark gene: MT-TW was added
gene: MT-TW was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TW was set to MITOCHONDRIAL
Phenotypes for gene: MT-TW were set to Encephalomyopathy
Review for gene: MT-TW was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.426 MT-TV Zornitza Stark Tag mtDNA tag was added to gene: MT-TV.
Mitochondrial disease v0.426 MT-TV Zornitza Stark Marked gene: MT-TV as ready
Mitochondrial disease v0.426 MT-TV Zornitza Stark Gene: mt-tv has been classified as Green List (High Evidence).
Mitochondrial disease v0.426 MT-TV Zornitza Stark Classified gene: MT-TV as Green List (high evidence)
Mitochondrial disease v0.426 MT-TV Zornitza Stark Gene: mt-tv has been classified as Green List (High Evidence).
Mitochondrial disease v0.425 MT-TV Zornitza Stark gene: MT-TV was added
gene: MT-TV was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TV was set to MITOCHONDRIAL
Phenotypes for gene: MT-TV were set to Ataxia; Seizures; Deafness
Review for gene: MT-TV was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.424 MT-TT Zornitza Stark Marked gene: MT-TT as ready
Mitochondrial disease v0.424 MT-TT Zornitza Stark Gene: mt-tt has been classified as Red List (Low Evidence).
Mitochondrial disease v0.424 MT-TT Zornitza Stark Tag mtDNA tag was added to gene: MT-TT.
Mitochondrial disease v0.424 MT-TT Zornitza Stark gene: MT-TT was added
gene: MT-TT was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TT was set to MITOCHONDRIAL
Review for gene: MT-TT was set to RED
Added comment: Sources: Expert list
Mitochondrial disease v0.423 MT-TS2 Zornitza Stark Marked gene: MT-TS2 as ready
Mitochondrial disease v0.423 MT-TS2 Zornitza Stark Gene: mt-ts2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.423 MT-TS2 Zornitza Stark Classified gene: MT-TS2 as Green List (high evidence)
Mitochondrial disease v0.423 MT-TS2 Zornitza Stark Gene: mt-ts2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.422 MT-TS2 Zornitza Stark gene: MT-TS2 was added
gene: MT-TS2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TS2 was set to MITOCHONDRIAL
Phenotypes for gene: MT-TS2 were set to MERRF; MELAS; Cerebellar ataxia
Review for gene: MT-TS2 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.421 MT-TS1 Zornitza Stark Marked gene: MT-TS1 as ready
Mitochondrial disease v0.421 MT-TS1 Zornitza Stark Gene: mt-ts1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.421 MT-TS1 Zornitza Stark Tag mtDNA tag was added to gene: MT-TS1.
Mitochondrial disease v0.421 MT-TS1 Zornitza Stark Classified gene: MT-TS1 as Green List (high evidence)
Mitochondrial disease v0.421 MT-TS1 Zornitza Stark Gene: mt-ts1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.420 MT-TS1 Zornitza Stark gene: MT-TS1 was added
gene: MT-TS1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TS1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-TS1 were set to MERRF; MELAS; Deafness
Review for gene: MT-TS1 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.419 MT-TR Zornitza Stark Marked gene: MT-TR as ready
Mitochondrial disease v0.419 MT-TR Zornitza Stark Gene: mt-tr has been classified as Green List (High Evidence).
Mitochondrial disease v0.419 MT-TR Zornitza Stark Tag mtDNA tag was added to gene: MT-TR.
Mitochondrial disease v0.419 MT-TR Zornitza Stark Classified gene: MT-TR as Green List (high evidence)
Mitochondrial disease v0.419 MT-TR Zornitza Stark Gene: mt-tr has been classified as Green List (High Evidence).
Mitochondrial disease v0.418 MT-TR Zornitza Stark gene: MT-TR was added
gene: MT-TR was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TR was set to MITOCHONDRIAL
Phenotypes for gene: MT-TR were set to Encephalomyopathy
Review for gene: MT-TR was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.417 MT-TQ Zornitza Stark Marked gene: MT-TQ as ready
Mitochondrial disease v0.417 MT-TQ Zornitza Stark Gene: mt-tq has been classified as Green List (High Evidence).
Mitochondrial disease v0.417 MT-TQ Zornitza Stark Tag mtDNA tag was added to gene: MT-TQ.
Mitochondrial disease v0.417 MT-TQ Zornitza Stark Classified gene: MT-TQ as Green List (high evidence)
Mitochondrial disease v0.417 MT-TQ Zornitza Stark Gene: mt-tq has been classified as Green List (High Evidence).
Mitochondrial disease v0.416 MT-TQ Zornitza Stark gene: MT-TQ was added
gene: MT-TQ was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TQ was set to MITOCHONDRIAL
Phenotypes for gene: MT-TQ were set to MELAS; deafness; mitochondrial myopathy
Review for gene: MT-TQ was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.415 MT-TP Zornitza Stark Marked gene: MT-TP as ready
Mitochondrial disease v0.415 MT-TP Zornitza Stark Gene: mt-tp has been classified as Green List (High Evidence).
Mitochondrial disease v0.415 MT-TP Zornitza Stark Tag mtDNA tag was added to gene: MT-TP.
Mitochondrial disease v0.415 MT-TP Zornitza Stark Classified gene: MT-TP as Green List (high evidence)
Mitochondrial disease v0.415 MT-TP Zornitza Stark Gene: mt-tp has been classified as Green List (High Evidence).
Mitochondrial disease v0.414 MT-TP Zornitza Stark gene: MT-TP was added
gene: MT-TP was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TP was set to MITOCHONDRIAL
Phenotypes for gene: MT-TP were set to MERRF; myopathy
Review for gene: MT-TP was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.413 MT-TN Zornitza Stark Marked gene: MT-TN as ready
Mitochondrial disease v0.413 MT-TN Zornitza Stark Gene: mt-tn has been classified as Green List (High Evidence).
Mitochondrial disease v0.413 MT-TN Zornitza Stark Classified gene: MT-TN as Green List (high evidence)
Mitochondrial disease v0.413 MT-TN Zornitza Stark Gene: mt-tn has been classified as Green List (High Evidence).
Mitochondrial disease v0.412 MT-TN Zornitza Stark gene: MT-TN was added
gene: MT-TN was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TN was set to MITOCHONDRIAL
Phenotypes for gene: MT-TN were set to Mitochondrial myopathy
Review for gene: MT-TN was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.411 MT-TM Zornitza Stark Marked gene: MT-TM as ready
Mitochondrial disease v0.411 MT-TM Zornitza Stark Gene: mt-tm has been classified as Green List (High Evidence).
Mitochondrial disease v0.411 MT-TM Zornitza Stark Tag mtDNA tag was added to gene: MT-TM.
Mitochondrial disease v0.411 MT-TM Zornitza Stark Classified gene: MT-TM as Green List (high evidence)
Mitochondrial disease v0.411 MT-TM Zornitza Stark Gene: mt-tm has been classified as Green List (High Evidence).
Mitochondrial disease v0.410 MT-TM Zornitza Stark gene: MT-TM was added
gene: MT-TM was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TM was set to MITOCHONDRIAL
Phenotypes for gene: MT-TM were set to Mitochondrial myopathy
Review for gene: MT-TM was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.409 MT-TL2 Zornitza Stark Marked gene: MT-TL2 as ready
Mitochondrial disease v0.409 MT-TL2 Zornitza Stark Gene: mt-tl2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.409 MT-TL2 Zornitza Stark Tag mtDNA tag was added to gene: MT-TL2.
Mitochondrial disease v0.409 MT-TL2 Zornitza Stark Classified gene: MT-TL2 as Green List (high evidence)
Mitochondrial disease v0.409 MT-TL2 Zornitza Stark Gene: mt-tl2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.408 MT-TL2 Zornitza Stark gene: MT-TL2 was added
gene: MT-TL2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TL2 was set to MITOCHONDRIAL
Phenotypes for gene: MT-TL2 were set to Myopathy; Cardiomyopathy; Encephalomyopathy
Review for gene: MT-TL2 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.407 MT-TL1 Zornitza Stark Marked gene: MT-TL1 as ready
Mitochondrial disease v0.407 MT-TL1 Zornitza Stark Gene: mt-tl1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.407 MT-TL1 Zornitza Stark Tag mtDNA tag was added to gene: MT-TL1.
Mitochondrial disease v0.407 MT-TL1 Zornitza Stark Classified gene: MT-TL1 as Green List (high evidence)
Mitochondrial disease v0.407 MT-TL1 Zornitza Stark Gene: mt-tl1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.406 MT-TL1 Zornitza Stark gene: MT-TL1 was added
gene: MT-TL1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-TL1 were set to MELAS
Review for gene: MT-TL1 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.405 MT-TK Zornitza Stark Marked gene: MT-TK as ready
Mitochondrial disease v0.405 MT-TK Zornitza Stark Gene: mt-tk has been classified as Green List (High Evidence).
Mitochondrial disease v0.405 MT-TK Zornitza Stark Classified gene: MT-TK as Green List (high evidence)
Mitochondrial disease v0.405 MT-TK Zornitza Stark Gene: mt-tk has been classified as Green List (High Evidence).
Mitochondrial disease v0.404 MT-TK Zornitza Stark gene: MT-TK was added
gene: MT-TK was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TK was set to MITOCHONDRIAL
Phenotypes for gene: MT-TK were set to MERRF; Encephalopathy; Deafness; Cardiomyopathy
Review for gene: MT-TK was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.403 MT-TI Zornitza Stark Marked gene: MT-TI as ready
Mitochondrial disease v0.403 MT-TI Zornitza Stark Gene: mt-ti has been classified as Green List (High Evidence).
Mitochondrial disease v0.403 MT-TI Zornitza Stark Tag mtDNA tag was added to gene: MT-TI.
Mitochondrial disease v0.403 MT-TI Zornitza Stark Classified gene: MT-TI as Green List (high evidence)
Mitochondrial disease v0.403 MT-TI Zornitza Stark Gene: mt-ti has been classified as Green List (High Evidence).
Mitochondrial disease v0.402 MT-TI Zornitza Stark gene: MT-TI was added
gene: MT-TI was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TI was set to MITOCHONDRIAL
Phenotypes for gene: MT-TI were set to Mitochondrial myopathy; Encephalopathy
Review for gene: MT-TI was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.401 MT-TH Zornitza Stark Tag mtDNA tag was added to gene: MT-TH.
Mitochondrial disease v0.401 MT-TH Zornitza Stark Marked gene: MT-TH as ready
Mitochondrial disease v0.401 MT-TH Zornitza Stark Gene: mt-th has been classified as Green List (High Evidence).
Mitochondrial disease v0.401 MT-TH Zornitza Stark Classified gene: MT-TH as Green List (high evidence)
Mitochondrial disease v0.401 MT-TH Zornitza Stark Gene: mt-th has been classified as Green List (High Evidence).
Mitochondrial disease v0.400 MT-TH Zornitza Stark gene: MT-TH was added
gene: MT-TH was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TH was set to MITOCHONDRIAL
Phenotypes for gene: MT-TH were set to Dilated cardiomyopathy; Retinopathy; Deafness; MELAS; MERFF
Review for gene: MT-TH was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.399 MT-TG Zornitza Stark Marked gene: MT-TG as ready
Mitochondrial disease v0.399 MT-TG Zornitza Stark Gene: mt-tg has been classified as Green List (High Evidence).
Mitochondrial disease v0.399 MT-TG Zornitza Stark Tag mtDNA tag was added to gene: MT-TG.
Mitochondrial disease v0.399 MT-TG Zornitza Stark Classified gene: MT-TG as Green List (high evidence)
Mitochondrial disease v0.399 MT-TG Zornitza Stark Gene: mt-tg has been classified as Green List (High Evidence).
Mitochondrial disease v0.398 MT-TG Zornitza Stark gene: MT-TG was added
gene: MT-TG was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TG was set to MITOCHONDRIAL
Phenotypes for gene: MT-TG were set to Cardiomyopathy
Review for gene: MT-TG was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.397 MT-TF Zornitza Stark Marked gene: MT-TF as ready
Mitochondrial disease v0.397 MT-TF Zornitza Stark Gene: mt-tf has been classified as Green List (High Evidence).
Mitochondrial disease v0.397 MT-TF Zornitza Stark Tag mtDNA tag was added to gene: MT-TF.
Mitochondrial disease v0.397 MT-TF Zornitza Stark Classified gene: MT-TF as Green List (high evidence)
Mitochondrial disease v0.397 MT-TF Zornitza Stark Gene: mt-tf has been classified as Green List (High Evidence).
Mitochondrial disease v0.396 MT-TF Zornitza Stark gene: MT-TF was added
gene: MT-TF was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TF was set to MITOCHONDRIAL
Phenotypes for gene: MT-TF were set to MELAS; MERFF; Encephalopathy; Myopathy
Review for gene: MT-TF was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.395 MT-TE Zornitza Stark Marked gene: MT-TE as ready
Mitochondrial disease v0.395 MT-TE Zornitza Stark Gene: mt-te has been classified as Green List (High Evidence).
Mitochondrial disease v0.395 MT-TE Zornitza Stark Classified gene: MT-TE as Green List (high evidence)
Mitochondrial disease v0.395 MT-TE Zornitza Stark Gene: mt-te has been classified as Green List (High Evidence).
Mitochondrial disease v0.394 MT-TE Zornitza Stark gene: MT-TE was added
gene: MT-TE was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL
Phenotypes for gene: MT-TE were set to Mitochondrial myopathy; Deafness; Diabetes
Review for gene: MT-TE was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.393 MT-TD Zornitza Stark Marked gene: MT-TD as ready
Mitochondrial disease v0.393 MT-TD Zornitza Stark Gene: mt-td has been classified as Green List (High Evidence).
Mitochondrial disease v0.393 MT-TD Zornitza Stark Tag mtDNA tag was added to gene: MT-TD.
Mitochondrial disease v0.393 MT-TD Zornitza Stark Classified gene: MT-TD as Green List (high evidence)
Mitochondrial disease v0.393 MT-TD Zornitza Stark Gene: mt-td has been classified as Green List (High Evidence).
Mitochondrial disease v0.392 MT-TD Zornitza Stark gene: MT-TD was added
gene: MT-TD was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TD was set to MITOCHONDRIAL
Phenotypes for gene: MT-TD were set to Mitochondrial myopathy
Review for gene: MT-TD was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.391 MT-TC Zornitza Stark Marked gene: MT-TC as ready
Mitochondrial disease v0.391 MT-TC Zornitza Stark Gene: mt-tc has been classified as Green List (High Evidence).
Mitochondrial disease v0.391 MT-TC Zornitza Stark Classified gene: MT-TC as Green List (high evidence)
Mitochondrial disease v0.391 MT-TC Zornitza Stark Gene: mt-tc has been classified as Green List (High Evidence).
Mitochondrial disease v0.390 MT-TC Zornitza Stark gene: MT-TC was added
gene: MT-TC was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TC was set to MITOCHONDRIAL
Phenotypes for gene: MT-TC were set to MELAS; Dystonia
Review for gene: MT-TC was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.389 MT-TA Zornitza Stark Marked gene: MT-TA as ready
Mitochondrial disease v0.389 MT-TA Zornitza Stark Gene: mt-ta has been classified as Green List (High Evidence).
Mitochondrial disease v0.389 MT-TA Zornitza Stark Tag mtDNA tag was added to gene: MT-TA.
Mitochondrial disease v0.389 MT-TA Zornitza Stark Classified gene: MT-TA as Green List (high evidence)
Mitochondrial disease v0.389 MT-TA Zornitza Stark Gene: mt-ta has been classified as Green List (High Evidence).
Mitochondrial disease v0.388 MT-TA Zornitza Stark gene: MT-TA was added
gene: MT-TA was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-TA was set to MITOCHONDRIAL
Phenotypes for gene: MT-TA were set to Mitochondrial myopathy
Review for gene: MT-TA was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.387 MT-RNR1 Zornitza Stark Marked gene: MT-RNR1 as ready
Mitochondrial disease v0.387 MT-RNR1 Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.387 MT-RNR1 Zornitza Stark Classified gene: MT-RNR1 as Green List (high evidence)
Mitochondrial disease v0.387 MT-RNR1 Zornitza Stark Gene: mt-rnr1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.386 MT-RNR1 Zornitza Stark gene: MT-RNR1 was added
gene: MT-RNR1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-RNR1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-RNR1 were set to Deafness; Cardiomyopathy
Review for gene: MT-RNR1 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.385 MT-ND6 Zornitza Stark Marked gene: MT-ND6 as ready
Mitochondrial disease v0.385 MT-ND6 Zornitza Stark Gene: mt-nd6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.385 MT-ND6 Zornitza Stark Classified gene: MT-ND6 as Green List (high evidence)
Mitochondrial disease v0.385 MT-ND6 Zornitza Stark Gene: mt-nd6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.384 MT-ND6 Zornitza Stark gene: MT-ND6 was added
gene: MT-ND6 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND6 were set to Mitochondrial cardiomyopathy complex I deficiency; Leber's optic neuropathy; MELAS; Dystonia; Striatal necrosis, bilateral
Review for gene: MT-ND6 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.383 MT-ND5 Zornitza Stark Tag mtDNA tag was added to gene: MT-ND5.
Mitochondrial disease v0.383 MT-ND5 Zornitza Stark Marked gene: MT-ND5 as ready
Mitochondrial disease v0.383 MT-ND5 Zornitza Stark Gene: mt-nd5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.383 MT-ND5 Zornitza Stark Classified gene: MT-ND5 as Green List (high evidence)
Mitochondrial disease v0.383 MT-ND5 Zornitza Stark Gene: mt-nd5 has been classified as Green List (High Evidence).
Mitochondrial disease v0.382 MT-ND5 Zornitza Stark gene: MT-ND5 was added
gene: MT-ND5 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND5 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND5 were set to Mitochondrial complex I deficiency; Leber's optic neuropathy; MERFF
Review for gene: MT-ND5 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.381 MT-ND4L Zornitza Stark Marked gene: MT-ND4L as ready
Mitochondrial disease v0.381 MT-ND4L Zornitza Stark Gene: mt-nd4l has been classified as Green List (High Evidence).
Mitochondrial disease v0.381 MT-ND4L Zornitza Stark Classified gene: MT-ND4L as Green List (high evidence)
Mitochondrial disease v0.381 MT-ND4L Zornitza Stark Gene: mt-nd4l has been classified as Green List (High Evidence).
Mitochondrial disease v0.380 MT-ND4L Zornitza Stark gene: MT-ND4L was added
gene: MT-ND4L was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND4L was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND4L were set to Leber's optic atrophy
Review for gene: MT-ND4L was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.379 MT-ND4 Zornitza Stark Tag mtDNA tag was added to gene: MT-ND4.
Mitochondrial disease v0.379 MT-ND4 Zornitza Stark Marked gene: MT-ND4 as ready
Mitochondrial disease v0.379 MT-ND4 Zornitza Stark Gene: mt-nd4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.379 MT-ND4 Zornitza Stark Classified gene: MT-ND4 as Green List (high evidence)
Mitochondrial disease v0.379 MT-ND4 Zornitza Stark Gene: mt-nd4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.378 MT-ND4 Zornitza Stark gene: MT-ND4 was added
gene: MT-ND4 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND4 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND4 were set to Mitochondrial complex I deficiency; Leber's optic neuropathy; Dystonia
Review for gene: MT-ND4 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.377 MT-ND3 Zornitza Stark Tag mtDNA tag was added to gene: MT-ND3.
Mitochondrial disease v0.377 MT-ND3 Zornitza Stark Marked gene: MT-ND3 as ready
Mitochondrial disease v0.377 MT-ND3 Zornitza Stark Gene: mt-nd3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.377 MT-ND3 Zornitza Stark Classified gene: MT-ND3 as Green List (high evidence)
Mitochondrial disease v0.377 MT-ND3 Zornitza Stark Gene: mt-nd3 has been classified as Green List (High Evidence).
Mitochondrial disease v0.376 MT-ND3 Zornitza Stark gene: MT-ND3 was added
gene: MT-ND3 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND3 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND3 were set to Complex I deficiency
Review for gene: MT-ND3 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.375 MT-ND2 Zornitza Stark Marked gene: MT-ND2 as ready
Mitochondrial disease v0.375 MT-ND2 Zornitza Stark Gene: mt-nd2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.375 MT-ND2 Zornitza Stark Classified gene: MT-ND2 as Green List (high evidence)
Mitochondrial disease v0.375 MT-ND2 Zornitza Stark Gene: mt-nd2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.374 MT-ND2 Zornitza Stark gene: MT-ND2 was added
gene: MT-ND2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND2 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND2 were set to Mitochondrial complex I deficiency; Leber's optic neuropathy
Review for gene: MT-ND2 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.373 MT-ND1 Zornitza Stark Marked gene: MT-ND1 as ready
Mitochondrial disease v0.373 MT-ND1 Zornitza Stark Gene: mt-nd1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.373 MT-ND1 Zornitza Stark Tag mtDNA tag was added to gene: MT-ND1.
Mitochondrial disease v0.373 MT-ND1 Zornitza Stark Classified gene: MT-ND1 as Green List (high evidence)
Mitochondrial disease v0.373 MT-ND1 Zornitza Stark Gene: mt-nd1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.372 MT-ND1 Zornitza Stark gene: MT-ND1 was added
gene: MT-ND1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ND1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND1 were set to Mitochondrial complex I deficiency; Leber's optic neuropathy; Deafness; Dystonia
Review for gene: MT-ND1 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.371 MT-CYB Zornitza Stark Tag mtDNA tag was added to gene: MT-CYB.
Mitochondrial disease v0.371 MT-CYB Zornitza Stark Marked gene: MT-CYB as ready
Mitochondrial disease v0.371 MT-CYB Zornitza Stark Gene: mt-cyb has been classified as Green List (High Evidence).
Mitochondrial disease v0.371 MT-CYB Zornitza Stark Classified gene: MT-CYB as Green List (high evidence)
Mitochondrial disease v0.371 MT-CYB Zornitza Stark Gene: mt-cyb has been classified as Green List (High Evidence).
Mitochondrial disease v0.370 MT-CYB Zornitza Stark gene: MT-CYB was added
gene: MT-CYB was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-CYB was set to MITOCHONDRIAL
Phenotypes for gene: MT-CYB were set to Leber's optic atrophy; Encephalomyopathy; Cardiomyopathy
Review for gene: MT-CYB was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.369 MT-CO2 Zornitza Stark Tag mtDNA tag was added to gene: MT-CO2.
Mitochondrial disease v0.369 MT-CO2 Zornitza Stark Marked gene: MT-CO2 as ready
Mitochondrial disease v0.369 MT-CO2 Zornitza Stark Gene: mt-co2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.369 MT-CO2 Zornitza Stark Classified gene: MT-CO2 as Green List (high evidence)
Mitochondrial disease v0.369 MT-CO2 Zornitza Stark Gene: mt-co2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.368 MT-CO2 Zornitza Stark gene: MT-CO2 was added
gene: MT-CO2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-CO2 was set to MITOCHONDRIAL
Phenotypes for gene: MT-CO2 were set to Cytochrome c oxidase deficiency
Review for gene: MT-CO2 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.367 MT-CO1 Zornitza Stark Marked gene: MT-CO1 as ready
Mitochondrial disease v0.367 MT-CO1 Zornitza Stark Gene: mt-co1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.367 MT-CO1 Zornitza Stark Tag mtDNA tag was added to gene: MT-CO1.
Mitochondrial disease v0.367 MT-CO1 Zornitza Stark Classified gene: MT-CO1 as Green List (high evidence)
Mitochondrial disease v0.367 MT-CO1 Zornitza Stark Gene: mt-co1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.366 MT-CO1 Zornitza Stark gene: MT-CO1 was added
gene: MT-CO1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-CO1 was set to MITOCHONDRIAL
Phenotypes for gene: MT-CO1 were set to Leber's optic atrophy; Sideroblastic anaemia; Cytochrome c oxidase deficiency; Myoglobinuria
Review for gene: MT-CO1 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.365 MT-ATP8 Zornitza Stark Marked gene: MT-ATP8 as ready
Mitochondrial disease v0.365 MT-ATP8 Zornitza Stark Gene: mt-atp8 has been classified as Green List (High Evidence).
Mitochondrial disease v0.365 MT-ATP8 Zornitza Stark Classified gene: MT-ATP8 as Green List (high evidence)
Mitochondrial disease v0.365 MT-ATP8 Zornitza Stark Gene: mt-atp8 has been classified as Green List (High Evidence).
Mitochondrial disease v0.364 MT-ATP8 Zornitza Stark gene: MT-ATP8 was added
gene: MT-ATP8 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ATP8 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ATP8 were set to Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency
Review for gene: MT-ATP8 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.363 MT-ATP6 Zornitza Stark Marked gene: MT-ATP6 as ready
Mitochondrial disease v0.363 MT-ATP6 Zornitza Stark Gene: mt-atp6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.363 MT-ATP6 Zornitza Stark Tag mtDNA tag was added to gene: MT-ATP6.
Mitochondrial disease v0.363 MT-ATP6 Zornitza Stark Classified gene: MT-ATP6 as Green List (high evidence)
Mitochondrial disease v0.363 MT-ATP6 Zornitza Stark Gene: mt-atp6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.362 MT-ATP6 Zornitza Stark gene: MT-ATP6 was added
gene: MT-ATP6 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ATP6 were set to Mitochondrial complex V (ATP synthase) deficiency
Review for gene: MT-ATP6 was set to GREEN
Added comment: Sources: Expert list
Mitochondrial disease v0.360 UQCRB Zornitza Stark Marked gene: UQCRB as ready
Mitochondrial disease v0.360 UQCRB Zornitza Stark Gene: uqcrb has been classified as Green List (High Evidence).
Mitochondrial disease v0.360 UQCRB Zornitza Stark Phenotypes for gene: UQCRB were changed from to Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158
Mitochondrial disease v0.359 UQCRB Zornitza Stark Publications for gene: UQCRB were set to
Mitochondrial disease v0.358 UQCRB Zornitza Stark Mode of inheritance for gene: UQCRB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.357 UQCRB Zornitza Stark edited their review of gene: UQCRB: Added comment: Three families, two had the same variant. Functional data.; Changed publications: 23281071, 28275242, 12709789, 25446085, 23454382
Mitochondrial disease v0.357 UQCRB Zornitza Stark reviewed gene: UQCRB: Rating: GREEN; Mode of pathogenicity: None; Publications: 23281071, 28275242, 12709789; Phenotypes: Mitochondrial complex III deficiency, nuclear type 3, MIM# 615158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.357 TRAK1 Zornitza Stark Marked gene: TRAK1 as ready
Mitochondrial disease v0.357 TRAK1 Zornitza Stark Gene: trak1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.357 TRAK1 Zornitza Stark Classified gene: TRAK1 as Green List (high evidence)
Mitochondrial disease v0.357 TRAK1 Zornitza Stark Gene: trak1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.356 TRAK1 Zornitza Stark gene: TRAK1 was added
gene: TRAK1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: TRAK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRAK1 were set to 28940097; 28364549; 29846532; 28924745
Phenotypes for gene: TRAK1 were set to Epileptic encephalopathy, early infantile, 68, MIM# 618201
Review for gene: TRAK1 was set to GREEN
Added comment: Six unrelated families reported with EE/ID phenotype. PMID 28924745 provides evidence that TRAK1 is a regulator of mitochondrial fusion.
Sources: Expert list
Mitochondrial disease v0.355 SDHB Zornitza Stark changed review comment from: Four unrelated families reported. Note in one family, one sibling was asymptomatic and most of her investigations were normal (borderline abnormality of thalami on MRI brain). Although the variant was postulated to be hypomorphic, this does raise the question of whether it truly segregated with disease.; to: Four unrelated families reported. Note in one family (PMID: 26925370), one sibling was asymptomatic and most of her investigations were normal (borderline abnormality of thalami on MRI brain). Although the variant was postulated to be hypomorphic, this does raise the question of whether it truly segregated with disease.
Mitochondrial disease v0.355 SDHB Zornitza Stark Publications for gene: SDHB were set to 22972948; 26925370
Mitochondrial disease v0.354 SDHB Zornitza Stark Classified gene: SDHB as Green List (high evidence)
Mitochondrial disease v0.354 SDHB Zornitza Stark Gene: sdhb has been classified as Green List (High Evidence).
Mitochondrial disease v0.353 SDHB Zornitza Stark edited their review of gene: SDHB: Changed rating: GREEN
Mitochondrial disease v0.353 SDHB Zornitza Stark changed review comment from: Two unrelated families reported. Note in second family, one sibling was asymptomatic and most of her investigations were normal (borderline abnormality of thalami on MRI brain). Although the variant was postulated to be hypomorphic, this does raise the question of whether it truly segregated with disease.; to: Four unrelated families reported. Note in one family, one sibling was asymptomatic and most of her investigations were normal (borderline abnormality of thalami on MRI brain). Although the variant was postulated to be hypomorphic, this does raise the question of whether it truly segregated with disease.
Mitochondrial disease v0.353 SDHB Zornitza Stark edited their review of gene: SDHB: Changed publications: 22972948, 26925370, 27604842
Mitochondrial disease v0.353 QRSL1 Zornitza Stark Marked gene: QRSL1 as ready
Mitochondrial disease v0.353 QRSL1 Zornitza Stark Gene: qrsl1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.353 QRSL1 Zornitza Stark Phenotypes for gene: QRSL1 were changed from to Combined oxidative phosphorylation deficiency 40
Mitochondrial disease v0.352 QRSL1 Zornitza Stark Publications for gene: QRSL1 were set to
Mitochondrial disease v0.351 QRSL1 Zornitza Stark Mode of inheritance for gene: QRSL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.350 QRSL1 Zornitza Stark reviewed gene: QRSL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26741492, 29440775, 30283131, 30642647; Phenotypes: Combined oxidative phosphorylation deficiency 40; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.350 PPCS Zornitza Stark Marked gene: PPCS as ready
Mitochondrial disease v0.350 PPCS Zornitza Stark Gene: ppcs has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.350 PPCS Zornitza Stark Classified gene: PPCS as Amber List (moderate evidence)
Mitochondrial disease v0.350 PPCS Zornitza Stark Gene: ppcs has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.349 PPCS Zornitza Stark gene: PPCS was added
gene: PPCS was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: PPCS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPCS were set to 29754768
Phenotypes for gene: PPCS were set to Cardiomyopathy, dilated, 2C, MIM# 618189
Review for gene: PPCS was set to AMBER
Added comment: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein and cardiac dysfunction observed in Drosophila model.
Sources: Expert list
Mitochondrial disease v0.348 NME3 Zornitza Stark Marked gene: NME3 as ready
Mitochondrial disease v0.348 NME3 Zornitza Stark Gene: nme3 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.348 NME3 Zornitza Stark gene: NME3 was added
gene: NME3 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: NME3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NME3 were set to 30587587
Phenotypes for gene: NME3 were set to Hypotonia; Neurodegeneration; Abnormal mitochondrial dynamics
Review for gene: NME3 was set to RED
Added comment: Single individual reported. NME3 is a mitochondrial outer-membrane protein capable of interacting with MFN1/2, and its depletion causes dysfunction in mitochondrial dynamics.
Sources: Expert list
Mitochondrial disease v0.347 MRPS28 Zornitza Stark Marked gene: MRPS28 as ready
Mitochondrial disease v0.347 MRPS28 Zornitza Stark Gene: mrps28 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.347 MRPS28 Zornitza Stark gene: MRPS28 was added
gene: MRPS28 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: MRPS28 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS28 were set to 30566640
Phenotypes for gene: MRPS28 were set to Intrauterine growth retardation; developmental delay; dysmorphism
Review for gene: MRPS28 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Mitochondrial disease v0.346 MRPS25 Zornitza Stark Marked gene: MRPS25 as ready
Mitochondrial disease v0.346 MRPS25 Zornitza Stark Gene: mrps25 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.346 MRPS25 Zornitza Stark gene: MRPS25 was added
gene: MRPS25 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: MRPS25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS25 were set to 31039582
Phenotypes for gene: MRPS25 were set to Dyskinetic cerebral palsy; Mitochondrial myopathy; Partial agenesis of the corpus callosum
Review for gene: MRPS25 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Mitochondrial disease v0.345 MRPS23 Zornitza Stark Phenotypes for gene: MRPS23 were changed from Hepatic disease; Combined respiratory chain complex deficiencies to Hepatic disease; Combined respiratory chain complex deficiencies; Cardiomyopathy; Tubulopathy; Lactic acidosis; Structural brain abnormalities
Mitochondrial disease v0.344 MRPS23 Zornitza Stark Publications for gene: MRPS23 were set to 26741492
Mitochondrial disease v0.343 MRPS23 Zornitza Stark Classified gene: MRPS23 as Green List (high evidence)
Mitochondrial disease v0.343 MRPS23 Zornitza Stark Gene: mrps23 has been classified as Green List (High Evidence).
Mitochondrial disease v0.342 MRPS23 Zornitza Stark edited their review of gene: MRPS23: Changed rating: GREEN
Mitochondrial disease v0.342 MRPS23 Zornitza Stark changed review comment from: Single family reported.; to: Four families reported.
Mitochondrial disease v0.342 MRPS23 Zornitza Stark edited their review of gene: MRPS23: Changed publications: 26741492, 17873122, 25663021, 28752220; Changed phenotypes: Hepatic disease, Combined respiratory chain complex deficiencies, Cardiomyopathy, Tubulopathy, Lactic acidosis, Structural brain abnormalities
Mitochondrial disease v0.342 MRPS22 Zornitza Stark Marked gene: MRPS22 as ready
Mitochondrial disease v0.342 MRPS22 Zornitza Stark Gene: mrps22 has been classified as Green List (High Evidence).
Mitochondrial disease v0.342 MRPS22 Zornitza Stark Phenotypes for gene: MRPS22 were changed from to Combined oxidative phosphorylation deficiency 5, MIM# 611719
Mitochondrial disease v0.341 MRPS22 Zornitza Stark Publications for gene: MRPS22 were set to
Mitochondrial disease v0.340 MRPS22 Zornitza Stark Mode of inheritance for gene: MRPS22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.339 MRPS22 Zornitza Stark reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: 17873122, 25663021, 28752220; Phenotypes: Combined oxidative phosphorylation deficiency 5, MIM# 611719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.339 MRPS2 Zornitza Stark Marked gene: MRPS2 as ready
Mitochondrial disease v0.339 MRPS2 Zornitza Stark Gene: mrps2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.339 MRPS2 Zornitza Stark Phenotypes for gene: MRPS2 were changed from to Combined oxidative phosphorylation deficiency 36, MIM# 617950
Mitochondrial disease v0.338 MRPS2 Zornitza Stark Publications for gene: MRPS2 were set to
Mitochondrial disease v0.337 MRPS2 Zornitza Stark Mode of inheritance for gene: MRPS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.336 MRPS2 Zornitza Stark reviewed gene: MRPS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 29576219; Phenotypes: Combined oxidative phosphorylation deficiency 36, MIM# 617950; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.336 MIEF2 Zornitza Stark Marked gene: MIEF2 as ready
Mitochondrial disease v0.336 MIEF2 Zornitza Stark Gene: mief2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.336 MIEF2 Zornitza Stark gene: MIEF2 was added
gene: MIEF2 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: MIEF2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIEF2 were set to 29361167
Phenotypes for gene: MIEF2 were set to Progressive muscle weakness; Exercise intolerance; Ragged red and COX negative fibres; Complex I and IV deficiency
Review for gene: MIEF2 was set to RED
Added comment: Single individual reported.
Sources: Expert list
Mitochondrial disease v0.335 EXOSC3 Zornitza Stark Marked gene: EXOSC3 as ready
Mitochondrial disease v0.335 EXOSC3 Zornitza Stark Gene: exosc3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.335 EXOSC3 Zornitza Stark Classified gene: EXOSC3 as Amber List (moderate evidence)
Mitochondrial disease v0.335 EXOSC3 Zornitza Stark Gene: exosc3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.334 EXOSC3 Zornitza Stark gene: EXOSC3 was added
gene: EXOSC3 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC3 were set to 28687512
Phenotypes for gene: EXOSC3 were set to Pontocerebellar hypoplasia, type 1B 614678; Intellectual disability; Microcephaly; Hypotonia; Mitochondrial dysfunction
Review for gene: EXOSC3 was set to AMBER
Added comment: Gene-disease association with PCH is well established; one individual reported with mitochondrial dysfunction, postulated to be due to reduced degradation by a dysfunctional exosome complex.
Sources: Expert list
Mitochondrial disease v0.333 ERAL1 Zornitza Stark Marked gene: ERAL1 as ready
Mitochondrial disease v0.333 ERAL1 Zornitza Stark Gene: eral1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.333 ERAL1 Zornitza Stark Classified gene: ERAL1 as Amber List (moderate evidence)
Mitochondrial disease v0.333 ERAL1 Zornitza Stark Gene: eral1 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.332 ERAL1 Zornitza Stark gene: ERAL1 was added
gene: ERAL1 was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERAL1 were set to 28449065
Phenotypes for gene: ERAL1 were set to Perrault syndrome 6, MIM# 617565
Review for gene: ERAL1 was set to AMBER
Added comment: Three individuals from same small geographical location with homozygous missense variant in this gene, functional data.
Sources: Expert list
Mitochondrial disease v0.331 COX4I1 Zornitza Stark reviewed gene: COX4I1: Rating: RED; Mode of pathogenicity: None; Publications: 28766551, 22592081; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.331 CHKB Zornitza Stark Marked gene: CHKB as ready
Mitochondrial disease v0.331 CHKB Zornitza Stark Gene: chkb has been classified as Green List (High Evidence).
Mitochondrial disease v0.331 CHKB Zornitza Stark Classified gene: CHKB as Green List (high evidence)
Mitochondrial disease v0.331 CHKB Zornitza Stark Gene: chkb has been classified as Green List (High Evidence).
Mitochondrial disease v0.330 CHKB Zornitza Stark gene: CHKB was added
gene: CHKB was added to Mitochondrial disease. Sources: Expert list
Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CHKB were set to 21665002; 23692895; 24997086
Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type, MIM# 602541; Intellectual disability; Abnormal mitochondria
Review for gene: CHKB was set to GREEN
Added comment: Congenital muscular dystrophy characterized by early-onset muscle wasting, intellectual disability, and enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center on muscle biopsy.
Sources: Expert list
Mitochondrial disease v0.329 C1QBP Zornitza Stark Marked gene: C1QBP as ready
Mitochondrial disease v0.329 C1QBP Zornitza Stark Gene: c1qbp has been classified as Green List (High Evidence).
Mitochondrial disease v0.329 C1QBP Zornitza Stark Phenotypes for gene: C1QBP were changed from to Combined oxidative phosphorylation deficiency 33, MIM# 617713
Mitochondrial disease v0.328 C1QBP Zornitza Stark Publications for gene: C1QBP were set to
Mitochondrial disease v0.327 C1QBP Zornitza Stark Mode of inheritance for gene: C1QBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.326 C1QBP Zornitza Stark reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 28942965; Phenotypes: Combined oxidative phosphorylation deficiency 33, MIM# 617713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.326 NDUFS4 Zornitza Stark Marked gene: NDUFS4 as ready
Mitochondrial disease v0.326 NDUFS4 Zornitza Stark Gene: ndufs4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.326 NDUFS4 Zornitza Stark Phenotypes for gene: NDUFS4 were changed from Mitochondrial complex I deficiency, nuclear type 1, 252010; Leigh syndrome to Mitochondrial complex I deficiency, nuclear type 1, 252010; Leigh syndrome, MIM#252010
Mitochondrial disease v0.325 NDUFS4 Zornitza Stark Phenotypes for gene: NDUFS4 were changed from to Mitochondrial complex I deficiency, nuclear type 1, 252010; Leigh syndrome
Mitochondrial disease v0.324 NDUFS4 Zornitza Stark Publications for gene: NDUFS4 were set to
Mitochondrial disease v0.323 NDUFS4 Zornitza Stark Mode of inheritance for gene: NDUFS4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.322 NDUFS4 Kristin Rigbye reviewed gene: NDUFS4: Rating: GREEN; Mode of pathogenicity: None; Publications: 10944442, 27079373, 19107570, 12616398; Phenotypes: Mitochondrial complex I deficiency, nuclear type 1, 252010, Leigh syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.322 CHCHD2 Bryony Thompson Classified gene: CHCHD2 as Green List (high evidence)
Mitochondrial disease v0.322 CHCHD2 Bryony Thompson Gene: chchd2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.321 CHCHD2 Bryony Thompson gene: CHCHD2 was added
gene: CHCHD2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: CHCHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHCHD2 were set to 32068847; 25662902; 31600778
Phenotypes for gene: CHCHD2 were set to Parkinson disease 22, autosomal dominant MIM#616710
Review for gene: CHCHD2 was set to GREEN
Added comment: Five families with heterozygous variants, segregation evidence for T61I in multiple families. Supporting functional evidence suggesting mitochondrial dysfunction through the genes role in mitochondrial respiratory function.
Sources: Literature
Mitochondrial disease v0.319 XPNPEP3 Zornitza Stark Classified gene: XPNPEP3 as Red List (low evidence)
Mitochondrial disease v0.319 XPNPEP3 Zornitza Stark Gene: xpnpep3 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.318 XPNPEP3 Zornitza Stark reviewed gene: XPNPEP3: Rating: RED; Mode of pathogenicity: None; Publications: 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, MIM#613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.318 QARS Zornitza Stark Marked gene: QARS as ready
Mitochondrial disease v0.318 QARS Zornitza Stark Gene: qars has been classified as Green List (High Evidence).
Mitochondrial disease v0.318 QARS Zornitza Stark Classified gene: QARS as Green List (high evidence)
Mitochondrial disease v0.318 QARS Zornitza Stark Gene: qars has been classified as Green List (High Evidence).
Mitochondrial disease v0.317 QARS Zornitza Stark gene: QARS was added
gene: QARS was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: QARS were set to 28620870; 25471517; 25432320; 25041233; 24656866; 32042906
Phenotypes for gene: QARS were set to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760
Review for gene: QARS was set to GREEN
Added comment: Encodes t-RNA synthetase, over 20 individuals reported, include in mito panel in line with other t-RNA synthetases.
Sources: NHS GMS
Mitochondrial disease v0.316 PNPLA4 Zornitza Stark Publications for gene: PNPLA4 were set to
Mitochondrial disease v0.315 PNPLA4 Zornitza Stark Mode of inheritance for gene: PNPLA4 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Mitochondrial disease v0.314 PNPLA4 Zornitza Stark Classified gene: PNPLA4 as Red List (low evidence)
Mitochondrial disease v0.314 PNPLA4 Zornitza Stark Gene: pnpla4 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.313 PNPLA4 Zornitza Stark edited their review of gene: PNPLA4: Changed rating: RED
Mitochondrial disease v0.313 CISD2 Bryony Thompson gene: CISD2 was added
gene: CISD2 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CISD2 were set to 29237418; 28335035; 27459537; 26230298; 17846994
Phenotypes for gene: CISD2 were set to Wolfram syndrome 2 MIM#604928
Review for gene: CISD2 was set to GREEN
Added comment: At least 3 families and a mouse model. Culture of patient-derived fibroblasts in glucose-free galactose medium revealed a respiratory chain defect in complexes I and II, and a trend towards decreased ATP levels.
Sources: NHS GMS
Mitochondrial disease v0.312 COX4I1 Bryony Thompson gene: COX4I1 was added
gene: COX4I1 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: COX4I1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX4I1 were set to 28766551
Phenotypes for gene: COX4I1 were set to short stature; mild dysmorphic features; Fanconi anemia
Review for gene: COX4I1 was set to RED
Added comment: Single family with a homozygous variant, with assays in patient fibroblasts only.
Sources: NHS GMS
Mitochondrial disease v0.311 NNT Zornitza Stark Marked gene: NNT as ready
Mitochondrial disease v0.311 NNT Zornitza Stark Gene: nnt has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.311 NNT Zornitza Stark Classified gene: NNT as Amber List (moderate evidence)
Mitochondrial disease v0.311 NNT Zornitza Stark Gene: nnt has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.310 NNT Zornitza Stark reviewed gene: NNT: Rating: AMBER; Mode of pathogenicity: None; Publications: 25778941; Phenotypes: Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disease v0.310 COX5A Bryony Thompson gene: COX5A was added
gene: COX5A was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: COX5A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COX5A were set to 28247525
Phenotypes for gene: COX5A were set to pulmonary arterial hypertension; lactic acidemia; failure to thrive; isolated complex IV deficiency
Review for gene: COX5A was set to RED
Added comment: Single family with a homozygous variant, with assays conducted in patient fibroblasts only.
Sources: NHS GMS
Mitochondrial disease v0.309 KIF5A Bryony Thompson gene: KIF5A was added
gene: KIF5A was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5A were set to 27463701; 27414745
Phenotypes for gene: KIF5A were set to Myoclonus, intractable, neonatal MIM#617235
Mode of pathogenicity for gene: KIF5A was set to Other
Review for gene: KIF5A was set to AMBER
Added comment: Three unrelated cases with de novo heterozygous predicted stop-loss variants with read-through of the normal termination codon to create an elongated protein and predicted to be dominant-negative. One of the cases was diagnosed with complex IV deficiency based on a high suspicion of mitochondrial disease given the clinical presentation and borderline findings on electron transport chain studies. There is no evidence that heterozygous variants associated with spastic paraplegia are linked to mitochondrial dysfunction.
Sources: NHS GMS
Mitochondrial disease v0.308 MICU2 Bryony Thompson Marked gene: MICU2 as ready
Mitochondrial disease v0.308 MICU2 Bryony Thompson Gene: micu2 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.308 MICU2 Bryony Thompson gene: MICU2 was added
gene: MICU2 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: MICU2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MICU2 were set to 29053821
Phenotypes for gene: MICU2 were set to cognitive impairment; spasticity; white matter involvement
Review for gene: MICU2 was set to RED
Added comment: Single multiplex consanguineous family segregating a homozygous truncating variant. Abnormal mitochondrial calcium homeostasis in patient cells.
Sources: NHS GMS
Mitochondrial disease v0.307 NAXD Bryony Thompson Marked gene: NAXD as ready
Mitochondrial disease v0.307 NAXD Bryony Thompson Gene: naxd has been classified as Green List (High Evidence).
Mitochondrial disease v0.307 NAXD Bryony Thompson Classified gene: NAXD as Green List (high evidence)
Mitochondrial disease v0.307 NAXD Bryony Thompson Gene: naxd has been classified as Green List (High Evidence).
Mitochondrial disease v0.306 NAXD Bryony Thompson gene: NAXD was added
gene: NAXD was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: NAXD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAXD were set to 30576410
Phenotypes for gene: NAXD were set to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321
Review for gene: NAXD was set to GREEN
Added comment: Six unrelated cases. Patient cells and muscle biopsies also showed impaired mitochondrial function, higher sensitivity to metabolic stress, and decreased mitochondrial reactive oxygen species production. In vitro functional assays also conducted.
Sources: NHS GMS
Mitochondrial disease v0.305 NDUFAF7 Bryony Thompson Marked gene: NDUFAF7 as ready
Mitochondrial disease v0.305 NDUFAF7 Bryony Thompson Gene: ndufaf7 has been classified as Red List (Low Evidence).
Mitochondrial disease v0.305 NDUFAF7 Bryony Thompson gene: NDUFAF7 was added
gene: NDUFAF7 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: NDUFAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NDUFAF7 were set to 28837730
Phenotypes for gene: NDUFAF7 were set to Pathologic myopia
Review for gene: NDUFAF7 was set to RED
Added comment: Single family with heterozygous variant. In vitro functional assays conducted are not compelling evidence.
Sources: NHS GMS
Mitochondrial disease v0.304 NDUFB10 Bryony Thompson Marked gene: NDUFB10 as ready
Mitochondrial disease v0.304 NDUFB10 Bryony Thompson Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.304 NDUFB10 Bryony Thompson Classified gene: NDUFB10 as Amber List (moderate evidence)
Mitochondrial disease v0.304 NDUFB10 Bryony Thompson Gene: ndufb10 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.303 NDUFB10 Bryony Thompson gene: NDUFB10 was added
gene: NDUFB10 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: NDUFB10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFB10 were set to 28040730; 32025618
Phenotypes for gene: NDUFB10 were set to fatal infantile lactic acidosis; cardiomyopathy
Review for gene: NDUFB10 was set to AMBER
Added comment: Single compound heterozygote case and assays of respiratory chain enzyme activities and functions in patient tissues/fibroblasts and in vitro functional assays. Plant model system supporting mitochondrial complex I dysfunction. No omim phenotype.
Sources: NHS GMS
Mitochondrial disease v0.302 NNT Bryony Thompson Classified gene: NNT as Green List (high evidence)
Mitochondrial disease v0.302 NNT Bryony Thompson Gene: nnt has been classified as Green List (High Evidence).
Mitochondrial disease v0.301 NNT Bryony Thompson gene: NNT was added
gene: NNT was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NNT were set to 26309815; 22634753
Phenotypes for gene: NNT were set to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736
Review for gene: NNT was set to GREEN
Added comment: >3 cases reported and a mouse model. A protein of the inner mitochondrial membrane with a key role in mitochondrial redox balance.
Sources: NHS GMS
Mitochondrial disease v0.300 NSUN3 Bryony Thompson Classified gene: NSUN3 as Amber List (moderate evidence)
Mitochondrial disease v0.300 NSUN3 Bryony Thompson Gene: nsun3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.299 NSUN3 Bryony Thompson gene: NSUN3 was added
gene: NSUN3 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: NSUN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSUN3 were set to 27356879
Phenotypes for gene: NSUN3 were set to combined mitochondrial respiratory chain complex deficiency
Review for gene: NSUN3 was set to AMBER
Added comment: A single compound heterozygous case. Patient-derived fibroblasts exhibited severe defects in mitochondrial translation that can be rescued by exogenous expression of NSun3. In vitro functional assays also conducted.
Sources: NHS GMS
Mitochondrial disease v0.298 OXA1L Bryony Thompson Classified gene: OXA1L as Amber List (moderate evidence)
Mitochondrial disease v0.298 OXA1L Bryony Thompson Gene: oxa1l has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.297 OXA1L Bryony Thompson changed review comment from: Single family reported with biochemical and molecular analyses of patient skeletal muscle and fibroblasts. In vitro functional assays in human cell lines and a Drosophila model. Loss of function affects oxidative phosphorylation complexes IV and V.
Sources: NHS GMS; to: Single family reported with biochemical and molecular analyses of patient skeletal muscle and fibroblasts. In vitro functional assays in human cell lines, Drosophila model, and yeast-based assays. Loss of function affects oxidative phosphorylation complexes IV and V.
Sources: NHS GMS
Mitochondrial disease v0.297 OXA1L Bryony Thompson edited their review of gene: OXA1L: Changed publications: 30201738, 16435202
Mitochondrial disease v0.297 OXA1L Bryony Thompson gene: OXA1L was added
gene: OXA1L was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: OXA1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OXA1L were set to 30201738
Phenotypes for gene: OXA1L were set to encephalopathy; hypotonia; developmental delay
Review for gene: OXA1L was set to AMBER
Added comment: Single family reported with biochemical and molecular analyses of patient skeletal muscle and fibroblasts. In vitro functional assays in human cell lines and a Drosophila model. Loss of function affects oxidative phosphorylation complexes IV and V.
Sources: NHS GMS
Mitochondrial disease v0.296 PET117 Bryony Thompson gene: PET117 was added
gene: PET117 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: PET117 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PET117 were set to 28386624
Phenotypes for gene: PET117 were set to Developmental delay
Review for gene: PET117 was set to RED
Added comment: Two siblings with deficiency of complex IV of the respiratory chain and a homozygous variant. Only functional assays conducted were complementation assays in patient fibroblasts.
Sources: NHS GMS
Mitochondrial disease v0.295 PITRM1 Bryony Thompson Classified gene: PITRM1 as Green List (high evidence)
Mitochondrial disease v0.295 PITRM1 Bryony Thompson Gene: pitrm1 has been classified as Green List (High Evidence).
Mitochondrial disease v0.294 PITRM1 Bryony Thompson edited their review of gene: PITRM1: Changed rating: GREEN
Mitochondrial disease v0.294 PITRM1 Bryony Thompson gene: PITRM1 was added
gene: PITRM1 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: PITRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PITRM1 were set to 26697887; 29764912
Phenotypes for gene: PITRM1 were set to Cerebellar atrophy; mental retardation; spinocerebellar ataxia; cognitive decline; psychosis
Added comment: Three families with two unique variants. Mitochondrial dysfunction identified in in vitro functional assays and mouse model. No OMIM phenotype.
Sources: NHS GMS
Mitochondrial disease v0.293 PLA2G6 Bryony Thompson Marked gene: PLA2G6 as ready
Mitochondrial disease v0.293 PLA2G6 Bryony Thompson Gene: pla2g6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.293 PLA2G6 Bryony Thompson Classified gene: PLA2G6 as Green List (high evidence)
Mitochondrial disease v0.293 PLA2G6 Bryony Thompson Gene: pla2g6 has been classified as Green List (High Evidence).
Mitochondrial disease v0.292 PLA2G6 Bryony Thompson gene: PLA2G6 was added
gene: PLA2G6 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLA2G6 were set to 25348461; 26001724; 26506412; 30528460; 16783378
Phenotypes for gene: PLA2G6 were set to Infantile neuroaxonal dystrophy 1 MIM#256600; Neurodegeneration with brain iron accumulation 2B MIM#610217; Parkinson disease 14, autosomal recessive MIM#612953
Review for gene: PLA2G6 was set to GREEN
Added comment: Findings in a Drosophila/mouse models and patient fibroblasts demonstrated that loss of normal PLA2G6 gene activity leads to lipid peroxidation, mitochondrial dysfunction and subsequent mitochondrial membrane abnormalities. >3 cases reported.
Sources: NHS GMS
Mitochondrial disease v0.291 PTCD1 Bryony Thompson changed review comment from: Single case reported with no functional characterisation. Biochemical analyses of heart tissue identified global COX defect.
Sources: NHS GMS; to: Single case reported with no functional characterisation. Biochemical analyses of heart tissue identified global COX defect. No OMIM phenotype.
Sources: NHS GMS
Mitochondrial disease v0.291 PTCD1 Bryony Thompson gene: PTCD1 was added
gene: PTCD1 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: PTCD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTCD1 were set to 25058219
Phenotypes for gene: PTCD1 were set to Cardiomyopathy
Review for gene: PTCD1 was set to RED
Added comment: Single case reported with no functional characterisation. Biochemical analyses of heart tissue identified global COX defect.
Sources: NHS GMS
Mitochondrial disease v0.290 PTCD3 Bryony Thompson Classified gene: PTCD3 as Amber List (moderate evidence)
Mitochondrial disease v0.290 PTCD3 Bryony Thompson Gene: ptcd3 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.289 PTCD3 Bryony Thompson gene: PTCD3 was added
gene: PTCD3 was added to Mitochondrial disease. Sources: NHS GMS
Mode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTCD3 were set to 30607703; 19427859
Phenotypes for gene: PTCD3 were set to Mental retardation; optic atrophy; Leigh-like syndrome
Review for gene: PTCD3 was set to AMBER
Added comment: One compound heterozygote case and functional assays. Essential subunit of oxidative phosphorylation (OXPHOS) complexes.
Sources: NHS GMS
Mitochondrial disease v0.288 D2HGDH Bryony Thompson Marked gene: D2HGDH as ready
Mitochondrial disease v0.288 D2HGDH Bryony Thompson Gene: d2hgdh has been classified as Green List (High Evidence).
Mitochondrial disease v0.288 D2HGDH Bryony Thompson Classified gene: D2HGDH as Green List (high evidence)
Mitochondrial disease v0.288 D2HGDH Bryony Thompson Gene: d2hgdh has been classified as Green List (High Evidence).
Mitochondrial disease v0.287 D2HGDH Bryony Thompson gene: D2HGDH was added
gene: D2HGDH was added to Mitochondrial disease. Sources: Literature,NHS GMS
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: D2HGDH were set to 25778941; 31349060; 15609246; 20020533
Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria MIM#600721
Review for gene: D2HGDH was set to GREEN
Added comment: Enzyme catalyses oxidation of D-2HG, which is coupled to the mitochondrial electron transport chain. >3 cases reported.
Sources: Literature, NHS GMS
Mitochondrial disease v0.286 IDH2 Bryony Thompson Marked gene: IDH2 as ready
Mitochondrial disease v0.286 IDH2 Bryony Thompson Gene: idh2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.286 IDH2 Bryony Thompson Classified gene: IDH2 as Green List (high evidence)
Mitochondrial disease v0.286 IDH2 Bryony Thompson Gene: idh2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.285 IDH2 Bryony Thompson gene: IDH2 was added
gene: IDH2 was added to Mitochondrial disease. Sources: Literature
Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IDH2 were set to 25778941; 27142242; 20847235; 24049096
Phenotypes for gene: IDH2 were set to D-2-hydroxyglutaric aciduria 2 MIM#613657
Review for gene: IDH2 was set to GREEN
Added comment: Loss of IDH2 induces mitochondrial dysfunction in a mouse model. 17 cases with a de novo or inherited from a mosaic carrier (R140G, R140Q) have been reported.
Sources: Literature
Mitochondrial disease v0.284 PANK2 Bryony Thompson Marked gene: PANK2 as ready
Mitochondrial disease v0.284 PANK2 Bryony Thompson Gene: pank2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.284 PANK2 Bryony Thompson Classified gene: PANK2 as Green List (high evidence)
Mitochondrial disease v0.284 PANK2 Bryony Thompson Gene: pank2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.283 PANK2 Bryony Thompson gene: PANK2 was added
gene: PANK2 was added to Mitochondrial disease. Sources: Literature,NHS GMS
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PANK2 were set to 25778941; 11479594; 12510040; 28863176
Phenotypes for gene: PANK2 were set to HARP syndrome MIM#607236; Neurodegeneration with brain iron accumulation 1 MIM#234200
Review for gene: PANK2 was set to GREEN
Added comment: A mitochondrial enzyme, which phosphorylates vitamin B5 in the first reaction of the CoA biosynthetic pathway (a relevant mitochondrial cofactor). >3 cases reported.
Sources: Literature, NHS GMS
Mitochondrial disease v0.282 COASY Bryony Thompson Marked gene: COASY as ready
Mitochondrial disease v0.282 COASY Bryony Thompson Gene: coasy has been classified as Green List (High Evidence).
Mitochondrial disease v0.282 COASY Bryony Thompson Classified gene: COASY as Green List (high evidence)
Mitochondrial disease v0.282 COASY Bryony Thompson Gene: coasy has been classified as Green List (High Evidence).
Mitochondrial disease v0.281 COASY Bryony Thompson gene: COASY was added
gene: COASY was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to 25778941; 24360804; 30089828; 28489334
Phenotypes for gene: COASY were set to Neurodegeneration with brain iron accumulation 6 MIM#615643; Pontocerebellar hypoplasia, type 12 MIM#618266
Review for gene: COASY was set to GREEN
Added comment: A bi-functional mitochondrial enzyme, which catalyzes the final steps of CoA biosynthesis, a relevant mitochondrial cofactor. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.280 PPOX Bryony Thompson Marked gene: PPOX as ready
Mitochondrial disease v0.280 PPOX Bryony Thompson Gene: ppox has been classified as Green List (High Evidence).
Mitochondrial disease v0.280 PPOX Bryony Thompson Classified gene: PPOX as Green List (high evidence)
Mitochondrial disease v0.280 PPOX Bryony Thompson Gene: ppox has been classified as Green List (High Evidence).
Mitochondrial disease v0.279 PPOX Bryony Thompson gene: PPOX was added
gene: PPOX was added to Mitochondrial disease. Sources: Literature,NHS GMS
Mode of inheritance for gene: PPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PPOX were set to 25778941; 9811936; 12859407; 30476629
Phenotypes for gene: PPOX were set to Porphyria variegata MIM#176200
Review for gene: PPOX was set to GREEN
Added comment: Variegate porphyria is a disorder of heme metabolism resulting from a deficiency in protoporphyrinogen oxidase, an enzyme located on the inner mitochondrial membrane. A defect in a relevant mitochondrial cofactor. >3 cases reported.
Sources: Literature, NHS GMS
Mitochondrial disease v0.278 HADHB Bryony Thompson Marked gene: HADHB as ready
Mitochondrial disease v0.278 HADHB Bryony Thompson Gene: hadhb has been classified as Green List (High Evidence).
Mitochondrial disease v0.278 HADHB Bryony Thompson Classified gene: HADHB as Green List (high evidence)
Mitochondrial disease v0.278 HADHB Bryony Thompson Gene: hadhb has been classified as Green List (High Evidence).
Mitochondrial disease v0.277 HADHB Bryony Thompson gene: HADHB was added
gene: HADHB was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHB were set to 25778941; 30682426; 9259266; 29956646
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency MIM#609015
Review for gene: HADHB was set to GREEN
Added comment: The heterooctameric mitochondrial trifunctional protein (MTP), composed of four α- and β-subunits harbours three enzymes that each perform a different function in mitochondrial fatty acid β-oxidation. MTP deficiency is a defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, Literature
Mitochondrial disease v0.276 HADHA Bryony Thompson Marked gene: HADHA as ready
Mitochondrial disease v0.276 HADHA Bryony Thompson Gene: hadha has been classified as Green List (High Evidence).
Mitochondrial disease v0.276 HADHA Bryony Thompson Classified gene: HADHA as Green List (high evidence)
Mitochondrial disease v0.276 HADHA Bryony Thompson Gene: hadha has been classified as Green List (High Evidence).
Mitochondrial disease v0.275 HADHA Bryony Thompson gene: HADHA was added
gene: HADHA was added to Mitochondrial disease. Sources: NHS GMS,Literature
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADHA were set to 25778941; 7811722; 29459657
Phenotypes for gene: HADHA were set to LCHAD deficiency MIM#609016; Trifunctional protein deficiency MIM#609015
Review for gene: HADHA was set to GREEN
Added comment: Long-Chain-3-Hydroxy-Acyl-CoA-Dehydrogenase-Deficiency (LCHADD) is an inherited disorder affecting mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported. Also affects mitochondrial morphology.
Sources: NHS GMS, Literature
Mitochondrial disease v0.274 NDUFA4 Zornitza Stark Classified gene: NDUFA4 as Green List (high evidence)
Mitochondrial disease v0.274 NDUFA4 Zornitza Stark Gene: ndufa4 has been classified as Green List (High Evidence).
Mitochondrial disease v0.273 NDUFA4 Zornitza Stark changed review comment from: Single family and a lot of functional data. Encodes a complex IV subunit.; to: Single family and a lot of functional data. Unpublished data on another family. Encodes a complex IV subunit.
Mitochondrial disease v0.273 NDUFA4 Zornitza Stark edited their review of gene: NDUFA4: Changed rating: GREEN
Mitochondrial disease v0.273 MRPS14 Zornitza Stark Classified gene: MRPS14 as Amber List (moderate evidence)
Mitochondrial disease v0.273 MRPS14 Zornitza Stark Gene: mrps14 has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.272 MRPS14 Zornitza Stark edited their review of gene: MRPS14: Changed rating: AMBER; Changed phenotypes: Combined oxidative phosphorylation deficiency 38, MIM# 618378
Mitochondrial disease v0.272 HADH Bryony Thompson Marked gene: HADH as ready
Mitochondrial disease v0.272 HADH Bryony Thompson Gene: hadh has been classified as Green List (High Evidence).
Mitochondrial disease v0.272 HADH Bryony Thompson Classified gene: HADH as Green List (high evidence)
Mitochondrial disease v0.272 HADH Bryony Thompson Gene: hadh has been classified as Green List (High Evidence).
Mitochondrial disease v0.271 HADH Bryony Thompson Classified gene: HADH as Amber List (moderate evidence)
Mitochondrial disease v0.271 HADH Bryony Thompson Gene: hadh has been classified as Amber List (Moderate Evidence).
Mitochondrial disease v0.270 HADH Bryony Thompson gene: HADH was added
gene: HADH was added to Mitochondrial disease. Sources: Literature,NHS GMS
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HADH were set to 25778941; 23430856; 27771675; 11489939
Phenotypes for gene: HADH were set to 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530
Review for gene: HADH was set to GREEN
Added comment: Short-chain-L-3-hydroxyacyl-CoA dehydrogenase deficiency is an inherited disorder affecting mitochondrial fatty acid β-oxidation. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: Literature, NHS GMS
Mitochondrial disease v0.269 CPT2 Bryony Thompson Mode of inheritance for gene: CPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.268 CPT2 Bryony Thompson edited their review of gene: CPT2: Changed phenotypes: CPT II deficiency, infantile MIM#600649, CPT II deficiency, lethal neonatal MIM#608836, CPT II deficiency, myopathic, stress-induced MIM#255110; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mitochondrial disease v0.268 CPT2 Bryony Thompson Marked gene: CPT2 as ready
Mitochondrial disease v0.268 CPT2 Bryony Thompson Gene: cpt2 has been classified as Green List (High Evidence).
Mitochondrial disease v0.268 CPT2 Bryony Thompson Classified gene: CPT2 as Green List (high evidence)
Mitochondrial disease v0.268 CPT2 Bryony Thompson Gene: cpt2 has been classified as Green List (High Evidence).