Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ACAD9 gene ACAD9 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 20, 611126 False 3 100;0;0 3.19 False ENSG00000177646 ENSG00000177646 HGNC:21497 FOXRED1 gene FOXRED1 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 19, 618241 False 3 100;0;0 3.19 False ENSG00000110074 ENSG00000110074 HGNC:26927 NDUFA1 gene NDUFA1 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mitochondrial complex I deficiency, nuclear type 12, 301020 False 3 100;0;0 3.19 False ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA10 gene NDUFA10 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 22, 618243 False 3 100;0;0 3.19 False ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA11 gene NDUFA11 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 14, 618236 False 3 100;0;0 3.19 False ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA12 gene NDUFA12 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 21617257;33715266;35141356 False 3 80;20;0 3.19 True ENSG00000184752 ENSG00000184752 HGNC:23987 NDUFA13 gene NDUFA13 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 28, OMIM:618249 25901006;32722639 False 3 80;20;0 3.19 True ENSG00000186010 ENSG00000186010 HGNC:17194 NDUFA2 gene NDUFA2 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 13, 618235 False 3 100;0;0 3.19 False ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFA6 gene NDUFA6 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253 30245030 False 3 67;33;0 3.19 True ENSG00000184983 ENSG00000184983 HGNC:7690 NDUFA8 gene NDUFA8 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 37, OMIM:619272 15576045;33153867;32385911 False 3 60;40;0 3.19 True ENSG00000119421 ENSG00000119421 HGNC:7692 NDUFA9 gene NDUFA9 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 26, 618247 28671271;22114105 False 3 75;25;0 3.19 True ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFAF1 gene NDUFAF1 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 11, 618234 False 3 100;0;0 3.19 False ENSG00000137806 ENSG00000137806 HGNC:18828 NDUFAF2 gene NDUFAF2 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 10, 618233 False 3 100;0;0 3.19 False ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF3 gene NDUFAF3 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 18, 618240 False 3 100;0;0 3.19 False ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF4 gene NDUFAF4 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 15, 618237 False 3 100;0;0 3.19 False ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFAF5 gene NDUFAF5 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 16, 616238 False 3 100;0;0 3.19 False ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFAF6 gene NDUFAF6 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 17, 612392 False 3 100;0;0 3.19 False ENSG00000156170 ENSG00000156170 HGNC:28625 NDUFAF8 gene NDUFAF8 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776 27499296 False 3 100;0;0 3.19 True ENSG00000224877 ENSG00000224877 HGNC:33551 NDUFB10 gene NDUFB10 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003 28040730;32025618;33169436 False 3 60;40;0 3.19 True ENSG00000140990 ENSG00000140990 HGNC:7696 NDUFB11 gene NDUFB11 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ?Mitochondrial complex I deficiency, nuclear type 30, 301021;Linear skin defects with multiple congenital anomalies 3, 300952 False 3 100;0;0 3.19 False ENSG00000147123 ENSG00000147123 HGNC:20372 NDUFB3 gene NDUFB3 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246 False 3 100;0;0 3.19 False ENSG00000119013 ENSG00000119013 HGNC:7698 NDUFB7 gene NDUFB7 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135 33502047;27626371;40025060 False 3 50;50;0 3.19 True ENSG00000099795 ENSG00000099795 HGNC:7702 NDUFB8 gene NDUFB8 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 32, 618252 27290639;29429571 False 3 67;33;0 3.19 True ENSG00000166136 ENSG00000166136 HGNC:7703 NDUFC2 gene NDUFC2 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170 32969598 False 3 80;20;0 3.19 True ENSG00000151366 ENSG00000151366 HGNC:7706 NDUFS1 gene NDUFS1 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 False 3 100;0;0 3.19 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 6, 618228 False 3 100;0;0 3.19 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS3 gene NDUFS3 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 8, 618230 False 3 100;0;0 3.19 False ENSG00000213619 ENSG00000213619 HGNC:7710 NDUFS4 gene NDUFS4 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 1, 252010 False 3 100;0;0 3.19 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS6 gene NDUFS6 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 9, 618232 False 3 100;0;0 3.19 False ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFS7 gene NDUFS7 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 3, 618224 False 3 100;0;0 3.19 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 2, 618222 False 3 100;0;0 3.19 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 4, 618225 False 3 100;0;0 3.19 False ENSG00000167792 ENSG00000167792 HGNC:7716 NDUFV2 gene NDUFV2 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 7, 618229 False 3 100;0;0 3.19 False ENSG00000178127 ENSG00000178127 HGNC:7717 NUBPL gene NUBPL Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 21, 618242 False 3 100;0;0 3.19 False ENSG00000151413 ENSG00000151413 HGNC:20278 TIMMDC1 gene TIMMDC1 Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 31, OMIM:618251 28604674;33278652 False 3 75;25;0 3.19 True ENSG00000113845 ENSG00000113845 HGNC:1321 TMEM126B gene TMEM126B Expert Review Green;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 29, 618250 27374774;27374773 False 3 60;40;0 3.19 False ENSG00000171204 ENSG00000171204 HGNC:30883 NDUFA3 gene NDUFA3 Expert Review Amber;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal Leigh syndrome 39661167 False 2 33;67;0 3.19 True ENSG00000170906 ENSG00000170906 HGNC:7686 NDUFA5 gene NDUFA5 Expert Review Amber;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 3.19 True ENSG00000128609 ENSG00000128609 HGNC:7688 NDUFA7 gene NDUFA7 Expert Review Amber;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 3.19 True ENSG00000267855 ENSG00000267855 HGNC:7691 NDUFAB1 gene NDUFAB1 Expert Review Amber;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 3.19 True ENSG00000004779 ENSG00000004779 HGNC:7694 NDUFB1 gene NDUFB1 Expert Review Amber;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 3.19 True ENSG00000183648 ENSG00000183648 HGNC:7695 NDUFB2 gene NDUFB2 Expert Review Amber;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 3.19 True ENSG00000090266 ENSG00000090266 HGNC:7697 NDUFB4 gene NDUFB4 Expert Review Amber;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype 28454995 False 2 33;67;0 3.19 True ENSG00000065518 ENSG00000065518 HGNC:7699 NDUFB5 gene NDUFB5 Expert Review Amber;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 3.19 True ENSG00000136521 ENSG00000136521 HGNC:7700 NDUFB6 gene NDUFB6 Expert Review Amber;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 3.19 True ENSG00000165264 ENSG00000165264 HGNC:7701 NDUFB9 gene NDUFB9 Expert Review Amber;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex I deficiency, nuclear type 24, 618245 22200994 False 2 67;33;0 3.19 True ENSG00000147684 ENSG00000147684 HGNC:7704 NDUFC1 gene NDUFC1 Expert Review Amber;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 3.19 True ENSG00000109390 ENSG00000109390 HGNC:7705 NDUFS5 gene NDUFS5 Expert Review Amber;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 3.19 True ENSG00000168653 ENSG00000168653 HGNC:7712 NDUFV3 gene NDUFV3 Expert Review Amber;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial Unknown No OMIM phenotype False 2 33;67;0 3.19 True ENSG00000160194 ENSG00000160194 HGNC:7719 ECSIT gene ECSIT Expert Review Red;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial Unknown No OMIM phenotype False 1 50;50;0 3.19 True ENSG00000130159 ENSG00000130159 HGNC:29548 NDUFAF7 gene NDUFAF7 Expert Review Red;NHS GMS Mitochondrial disorder with complex I deficiency Mitochondrial Unknown No OMIM phenotype 28837730 False 1 50;50;0 3.19 True ENSG00000003509 ENSG00000003509 HGNC:28816