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 AASS gene AASS Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperlysinemia, MIM# 238700 Abnormality of metabolism/homeostasis;HP:0001939 23570448 False 2 0;100;0 8.460 True ENSG00000008311 ENSG00000008311 HGNC:17366 ACADS gene ACADS Expert Review Amber;Literature;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470;MONDO:0008722 Abnormality of metabolism/homeostasis;HP:0001939 25778941;2808706;29678161 False 2 50;50;0 8.460 True ENSG00000122971 ENSG00000122971 HGNC:90 ACADS gene ACADS Expert Review Amber;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, short-chain, deficiency of, MIM# 201470;MONDO:0008722 Abnormality of metabolism/homeostasis;HP:0001939 False 2 0;100;0 8.460 True ENSG00000122971 ENSG00000122971 HGNC:90 ACSF3 gene ACSF3 Expert Review Amber;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined malonic and methylmalonic aciduria MIM#614265 Abnormality of metabolism/homeostasis;HP:0001939 21841779;30740739 False 2 0;100;0 8.460 True ENSG00000176715 ENSG00000176715 HGNC:27288 APOO gene APOO Expert Review Amber;Literature;Literature Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mitochondrial disease, MONDO:0044970, APOO-related;Developmental delay;Lactic acidosis;Muscle weakness;Hypotonia;Repetitive infections;Cognitive impairment;Autistic behaviour Abnormality of metabolism/homeostasis;HP:0001939 32439808;37649161 False 2 0;67;33 8.460 True ENSG00000184831 ENSG00000184831 HGNC:28727 ATP5A1 gene ATP5A1 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 22 616045;Mitochondrial complex V (ATP synthase) deficiency nuclear type 4, 615228;Mitochondrial disorder, autosomal dominant Abnormality of metabolism/homeostasis;HP:0001939 23599390;34483339 False 2 0;100;0 8.460 True ENSG00000152234 ENSG00000152234 HGNC:823 ATP5B gene ATP5B Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inherited dystonia, MONDO:0044807, ATP5B-related Abnormality of metabolism/homeostasis;HP:0001939 36860166;36239646 False 2 0;100;0 8.460 True ENSG00000110955 ENSG00000110955 HGNC:830 BLVRA gene BLVRA Expert Review Amber Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Disorders of haem degradation and bilirubin metabolism;hyperbiliverdinemia MONDO:0013595 Abnormality of metabolism/homeostasis;HP:0001939 19580635, 21278388 False 2 0;0;0 8.460 False ENSG00000106605 ENSG00000106605 HGNC:1062 CD320 gene CD320 Expert Review Amber Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic acidemia due to transcobalamin receptor defect MONDO:0013341 Abnormality of metabolism/homeostasis;HP:0001939 27604308;29663633;30303736 False 2 0;0;0 8.460 False ENSG00000167775 ENSG00000167775 HGNC:16692 CD320 gene CD320 Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646;Disorders of cobalamin absorption, transport and metabolism Abnormality of metabolism/homeostasis;HP:0001939 29663633;27604308;30303736 False 2 100;0;0 8.460 True ENSG00000167775 ENSG00000167775 HGNC:16692 CEL gene CEL Expert Review Amber;NHS GMS Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes and pancreatic exocrine dysfunction;Maturity-onset diabetes of the young, type VIII, 609812 Abnormality of metabolism/homeostasis;HP:0001939 19760265;21784842;27650499;18544793;17989309;24062244;16369531;25160620 False 2 0;0;100 8.460 True ENSG00000170835 ENSG00000170835 HGNC:1848 CEP89 gene CEP89 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency Abnormality of metabolism/homeostasis;HP:0001939 23575228 False 2 0;0;100 8.460 True ENSG00000121289 ENSG00000121289 HGNC:25907 CETP gene CETP Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperalphalipoproteinemia MIM#143470;Disorders of high density lipoprotein metabolism Abnormality of metabolism/homeostasis;HP:0001939 12070157;2586614;27604308;2215607;2390095 False 2 100;0;0 8.460 True ENSG00000087237 ENSG00000087237 HGNC:1869 CLCN7 gene CLCN7 Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypopigmentation, organomegaly, and delayed myelination and development, MIM# 618541 Abnormality of metabolism/homeostasis;HP:0001939 31155284 False 2 0;100;0 8.460 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000103249 ENSG00000103249 HGNC:2025 CMPK2 gene CMPK2 Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal bilateral striopallidodentate calcinosis, MONDO:0008947, CMPK2-related Abnormality of metabolism/homeostasis;HP:0001939 36443312 False 2 0;100;0 8.460 True ENSG00000134326 ENSG00000134326 HGNC:27015 COG3 gene COG3 Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIbb, MIM# 620546 Abnormality of metabolism/homeostasis;HP:0001939 37711075 False 2 0;100;0 8.460 True ENSG00000136152 ENSG00000136152 HGNC:18619 COX14 gene COX14 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053" Abnormality of metabolism/homeostasis;HP:0001939 22243966 False 2 0;100;0 8.460 True ENSG00000178449 ENSG00000178449 HGNC:28216 COX16 gene COX16 Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 22, MIM# 619355;Hypertrophic cardiomyopathy;encephalopathy;severe fatal lactic acidosis Abnormality of metabolism/homeostasis;HP:0001939 33169484 False 2 0;100;0 8.460 True ENSG00000133983 ENSG00000133983 HGNC:20213 COX4I1 gene COX4I1 Expert Review Amber;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 16, MIM#619060;regression;seizures;short stature;mild dysmorphic features;Fanconi anemia Abnormality of metabolism/homeostasis;HP:0001939 28766551;22592081;31290619 False 2 0;50;50 8.460 True ENSG00000131143 ENSG00000131143 HGNC:2265 COX5A gene COX5A Expert Review Amber;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 20, MIM#619064;pulmonary arterial hypertension;lactic acidemia;failure to thrive;isolated complex IV deficiency Abnormality of metabolism/homeostasis;HP:0001939 28247525;35246835 False 2 0;50;50 8.460 True ENSG00000178741 ENSG00000178741 HGNC:2267 CRAT gene CRAT Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Neurodegeneration with brain iron accumulation 8, MIM# 617917;Leigh syndrome" Abnormality of metabolism/homeostasis;HP:0001939 29395073;31448845 False 2 0;100;0 8.460 True ENSG00000095321 ENSG00000095321 HGNC:2342 CREB3L3 gene CREB3L3 Expert Review Amber;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertriglyceridaemia-2, MIM#619324 Abnormality of metabolism/homeostasis;HP:0001939 32580631;29954705;27982131;27291420;26427795;21666694 False 2 0;100;0 8.460 True ENSG00000060566 ENSG00000060566 HGNC:18855 CTH gene CTH Expert Review Amber;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cystathioninuria MIM#219500 Abnormality of metabolism/homeostasis;HP:0001939 12574942;20584029;24761004;15151507 False 2 100;0;0 8.460 True ENSG00000116761 ENSG00000116761 HGNC:2501 CYB5A gene CYB5A Expert Review Amber Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of haem degradation and bilirubin metabolism;methemoglobinemia type 4 MONDO:0009605 Abnormality of metabolism/homeostasis;HP:0001939 22170710, 20080843, 32051920, 3951505 False 2 0;0;0 8.460 False ENSG00000166347 ENSG00000166347 HGNC:2570 DCXR gene DCXR Expert Review Amber;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Pentosuria MIM#260800;Disorders of pentose metabolism Abnormality of metabolism/homeostasis;HP:0001939 22042873 False 2 100;0;0 8.460 True ENSG00000169738 ENSG00000169738 HGNC:18985 DDOST gene DDOST Expert Review Amber;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ir, MIM# 614507 Abnormality of metabolism/homeostasis;HP:0001939 22305527 False 2 50;50;0 8.460 True ENSG00000244038 ENSG00000244038 HGNC:2728 DMGDH gene DMGDH Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Dimethylglycine dehydrogenase deficiency MIM#605850;Disorders and variants of other enzymes that oxidise xenobiotics Abnormality of metabolism/homeostasis;HP:0001939 11231903;18937046;28881522;27604308 False 2 0;100;0 8.460 True ENSG00000132837 ENSG00000132837 HGNC:24475 DYRK1B gene DYRK1B Expert Review Amber;NHS GMS Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Metabolic syndrome (coronary artery disease, hypertension, central obesity and diabetes);Abdominal obesity-metabolic syndrome 3, 615812 Abnormality of metabolism/homeostasis;HP:0001939 34193236;34786696;24827035;28743892 False 2 0;100;0 8.460 True ENSG00000105204 ENSG00000105204 HGNC:3092 EBP gene EBP Expert Review Amber;Expert Review Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Chondrodysplasia punctata, X-linked dominant (MIM#302960) Abnormality of metabolism/homeostasis;HP:0001939 12509714 False 2 0;100;0 8.460 True ENSG00000147155 ENSG00000147155 HGNC:3133 EPHX1 gene EPHX1 Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary lipodystrophy, MONDO:0020087, EPHX1-related Abnormality of metabolism/homeostasis;HP:0001939 34342583 False 2 0;100;0 8.460 True ENSG00000143819 ENSG00000143819 HGNC:3401 ERAL1 gene ERAL1 Expert Review Amber;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Perrault syndrome 6, MIM# 617565" Abnormality of metabolism/homeostasis;HP:0001939 28449065 False 2 0;100;0 8.460 True ENSG00000132591 ENSG00000132591 HGNC:3424 EXOSC3 gene EXOSC3 Expert Review Amber;Expert list;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Pontocerebellar hypoplasia, type 1B 614678;Intellectual disability;Microcephaly;Hypotonia;Mitochondrial dysfunction" Abnormality of metabolism/homeostasis;HP:0001939 28687512 False 2 0;100;0 8.460 True ENSG00000107371 ENSG00000107371 HGNC:17944 FECH gene FECH NHS Genomic Medicine Service;Expert Review Amber;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal EPP1;177000 PROTOPORPHYRIA, ERYTHROPOIETIC, 1 Abnormality of metabolism/homeostasis;HP:0001939 20857522;26387792;28614581 False 2 0;0;0 8.460 False ENSG00000066926 ENSG00000066926 HGNC:3647 FICD gene FICD Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Monogenic diabetes, MONDO:0015967, FICD-related Abnormality of metabolism/homeostasis;HP:0001939 36704923;36136088 False 2 0;100;0 8.460 True ENSG00000198855 ENSG00000198855 HGNC:18416 FXYD2 gene FXYD2 Expert Review Amber Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal hypomagnesemia 2 MONDO:0007937, Disorders of magnesium metabolism Abnormality of metabolism/homeostasis;HP:0001939 17980699, 12763862, 18448590, 11062458, 25765846, 27014088 False 2 0;0;0 8.460 False ENSG00000137731 ENSG00000137731 HGNC:4026 GATA1 gene GATA1 Expert Review Amber;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Thrombocytopenia, X-linked, with or without dyserythropoietic anemia, 300367;Congenital erythropoietic porphyria Abnormality of metabolism/homeostasis;HP:0001939 25251786;17148589 False 2 0;100;0 8.460 True ENSG00000102145 ENSG00000102145 HGNC:4170 GGT1 gene GGT1 Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Glutathioninuria MIM#231950;Disorders of the gamma-glutamyl cycle Abnormality of metabolism/homeostasis;HP:0001939 31520399;27604308;23615310;29483667 False 2 0;100;0 8.460 True ENSG00000100031 ENSG00000100031 HGNC:4250 GSR gene GSR Expert Review Amber;Other Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia due to glutathione reductase deficiency MONDO:0019531;Disorders of glutathione metabolism Abnormality of metabolism/homeostasis;HP:0001939 17185460;31122244 False 2 0;100;0 8.460 True ENSG00000104687 ENSG00000104687 HGNC:4623 HAL gene HAL Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Histidinemia MIM#235800;Disorders of histidine, tryptophan or lysine metabolism Abnormality of metabolism/homeostasis;HP:0001939 27604308;15806399;20156889 False 2 100;0;0 8.460 True ENSG00000084110 ENSG00000084110 HGNC:4806 HYAL1 gene HYAL1 Expert Review Amber;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IX, MIM# 601492;MONDO:0011093 Abnormality of metabolism/homeostasis;HP:0001939 10339581;18344557;21559944 False 2 0;100;0 8.460 True ENSG00000114378 ENSG00000114378 HGNC:5320 IDH3B gene IDH3B Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 46, MIM# 612572 Abnormality of metabolism/homeostasis;HP:0001939 18806796;31736247 False 2 0;100;0 8.460 True ENSG00000101365 ENSG00000101365 HGNC:5385 KHK gene KHK Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Fructosuria MIM#229800;Disorders of fructose metabolism Abnormality of metabolism/homeostasis;HP:0001939 7833921;27604308;29870677 False 2 0;100;0 8.460 True ENSG00000138030 ENSG00000138030 HGNC:6315 LYRM4 gene LYRM4 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 19, MIM# 615595 Abnormality of metabolism/homeostasis;HP:0001939 23814038;31497476 False 2 0;100;0 8.460 True ENSG00000214113 ENSG00000214113 HGNC:21365 MAN2B2 gene MAN2B2 Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, MONDO:0015286, MAN2B2-related Abnormality of metabolism/homeostasis;HP:0001939 38622837;35637269;31775018 False 2 0;100;0 8.460 True ENSG00000013288 ENSG00000013288 HGNC:29623 MANF gene MANF Expert Review Amber;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Diabetes, deafness, developmental delay, and short stature syndrome, MIM# 620651 Abnormality of metabolism/homeostasis;HP:0001939 26077850;33500254;34815294 False 2 0;100;0 8.460 True ENSG00000145050 ENSG00000145050 HGNC:15461 MARS2 gene MARS2 Expert Review Green;Expert list;Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 25, OMIM #616430;Spastic ataxia 3, autosomal recessive, OMIM #611390 Abnormality of metabolism/homeostasis;HP:0001939 25754315 False 2 0;100;0 8.460 True ENSG00000247626 ENSG00000247626 HGNC:25133 MPC2 gene MPC2 Expert Review Amber;Literature;Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal mitochondrial pyruvate carrier deficiency, MONDO:0013877, MPC2-related Abnormality of metabolism/homeostasis;HP:0001939 36417180 False 2 0;100;0 8.460 True ENSG00000143158 ENSG00000143158 HGNC:24515 MRPL50 gene MRPL50 Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO: 004470, MRPL50-related Abnormality of metabolism/homeostasis;HP:0001939 PMID: 37148394 False 2 0;100;0 8.460 True ENSG00000136897 ENSG00000136897 HGNC:16654 MRPS14 gene MRPS14 Expert Review Amber;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Combined oxidative phosphorylation deficiency 38, MIM# 618378" Abnormality of metabolism/homeostasis;HP:0001939 30358850 False 2 0;100;0 8.460 True ENSG00000120333 ENSG00000120333 HGNC:14049 MRPS16 gene MRPS16 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Australian Genomcis Health Alliance Leukodystrophy Flagship;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 2;OMIM #610498 Abnormality of metabolism/homeostasis;HP:0001939 28749478;15505824 False 2 0;0;100 8.460 True ENSG00000182180 ENSG00000182180 HGNC:14048 MRPS7 gene MRPS7 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 34, MIM# 617872 Abnormality of metabolism/homeostasis;HP:0001939 25556185;36421788 False 2 0;50;50 8.460 True ENSG00000125445 ENSG00000125445 HGNC:14499 NDUFA11 gene NDUFA11 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 Abnormality of metabolism/homeostasis;HP:0001939 18306244;31074871 False 2 0;100;0 8.460 True ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA8 gene NDUFA8 Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 37, MIM# 619272;Developmental delay;microcehaly;seizures Abnormality of metabolism/homeostasis;HP:0001939 32385911;33153867 False 2 0;100;0 8.460 True ENSG00000119421 ENSG00000119421 HGNC:7692 NDUFB7 gene NDUFB7 Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital lactic acidosis;hypertrophic cardiomyopathy Abnormality of metabolism/homeostasis;HP:0001939 33502047;27626371 False 2 0;100;0 8.460 True ENSG00000099795 ENSG00000099795 HGNC:7702 NDUFB9 gene NDUFB9 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 24, MIM#618245 Abnormality of metabolism/homeostasis;HP:0001939 22200994;38129218 False 2 0;100;0 8.460 True ENSG00000147684 ENSG00000147684 HGNC:7704 NDUFC2 gene NDUFC2 Expert Review Amber;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial complex I deficiency, nuclear type 36, MIM# 619170" Abnormality of metabolism/homeostasis;HP:0001939 32969598 False 2 0;100;0 8.460 True ENSG00000151366 ENSG00000151366 HGNC:7706 NNT gene NNT Expert Review Amber;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency MIM#614736 Abnormality of metabolism/homeostasis;HP:0001939 26309815;22634753 False 2 67;33;0 8.460 True ENSG00000112992 ENSG00000112992 HGNC:7863 NSUN3 gene NSUN3 Expert Review Amber;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 48, MIM# 619012 Abnormality of metabolism/homeostasis;HP:0001939 27356879;32488845 False 2 0;100;0 8.460 True ENSG00000178694 ENSG00000178694 HGNC:26208 NUS1 gene NUS1 Expert Review Amber;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 1aa, MIM#610463 Abnormality of metabolism/homeostasis;HP:0001939 25066056 False 2 0;100;0 8.460 True ENSG00000153989 ENSG00000153989 HGNC:21042 OPLAH gene OPLAH Expert Review Amber;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 5-oxoprolinase deficiency MIM#260005;Disorders of the gamma-glutamyl cycle Abnormality of metabolism/homeostasis;HP:0001939 27604308;27477828 False 2 100;0;0 8.460 True ENSG00000178814 ENSG00000178814 HGNC:8149 OXA1L gene OXA1L Expert Review Amber;Expert Review Amber;NHS GMS;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal encephalopathy;hypotonia;developmental delay Abnormality of metabolism/homeostasis;HP:0001939 30201738 False 2 0;100;0 8.460 True ENSG00000155463 ENSG00000155463 HGNC:8526 P4HTM gene P4HTM Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities;OMIM #618493 Abnormality of metabolism/homeostasis;HP:0001939 25078763;30940925;34285383 False 2 0;100;0 8.460 True ENSG00000178467 ENSG00000178467 HGNC:28858 PCBD1 gene PCBD1 Expert Review Amber;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070 Abnormality of metabolism/homeostasis;HP:0001939 9585615 False 2 0;100;0 8.460 True ENSG00000166228 ENSG00000166228 HGNC:8646 PDIA6 gene PDIA6 Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Asphyxiating thoracic dystrophy (ATD) syndrome and infantile onset diabetes Abnormality of metabolism/homeostasis;HP:0001939 PMID: 33495992 False 2 0;100;0 8.460 True ENSG00000143870 ENSG00000143870 HGNC:30168 PIGM gene PIGM Expert Review Amber;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol deficiency, MIM# 610293;portal vein thrombosis;persistent absence seizures;macrocephaly;infantile-onset cerebrovascular thrombotic events;portal vein thrombosis;persistent absence seizures;macrocephaly;infantile-onset cerebrovascular thrombotic events Abnormality of metabolism/homeostasis;HP:0001939 31445883;16767100 False 2 0;100;0 8.460 True ENSG00000143315 ENSG00000143315 HGNC:18858 PLIN1 gene PLIN1 Expert Review Amber;NHS GMS Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lipodystrophy, familial partial, type 4, 613877;Severe insulin resistance, partial lipodystrophy and diabetes Abnormality of metabolism/homeostasis;HP:0001939 11371650;21345103;25695774;30020498 False 2 0;100;0 8.460 True ENSG00000166819 ENSG00000166819 HGNC:9076 PNLIP gene PNLIP Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Pancreatic lipase deficiency MIM#614338;disorders of lipid and lipoprotein metabolism Abnormality of metabolism/homeostasis;HP:0001939 31977950;25862608;24262094;27604308 False 2 100;0;0 8.460 True ENSG00000175535 ENSG00000175535 HGNC:9155 POFUT1 gene POFUT1 Expert Review Amber;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dowling-Degos disease 2 (MIM# 615327) Abnormality of metabolism/homeostasis;HP:0001939 23684010;29452367;25157627 False 2 0;100;0 8.460 True ENSG00000101346 ENSG00000101346 HGNC:14988 PPM1K gene PPM1K Expert Review Amber;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, mild variant MONDO:0014057 Abnormality of metabolism/homeostasis;HP:0001939 29152456;23086801;36706222 False 2 0;50;50 8.460 True ENSG00000163644 ENSG00000163644 HGNC:25415 PPP1R15B gene PPP1R15B Expert Review Amber;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive juvenile-onset diabetes with microcephaly, epilepsy and intellectual disability,616817 Abnormality of metabolism/homeostasis;HP:0001939 26159176;26307080;27640355 False 2 0;100;0 8.460 True ENSG00000158615 ENSG00000158615 HGNC:14951 RRM1 gene RRM1 Expert Review Amber;Expert list;Expert Review Amber Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 6, MIM# 620647" Abnormality of metabolism/homeostasis;HP:0001939 PMID: 35617047 False 2 0;100;0 8.460 True ENSG00000167325 ENSG00000167325 HGNC:10451 SARDH gene SARDH Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Sarcosinemia MIM#268900;Disorders of serine, glycine or glycerate metabolism Abnormality of metabolism/homeostasis;HP:0001939 22825317;27604308 False 2 100;0;0 8.460 True ENSG00000123453 ENSG00000123453 HGNC:10536 SCARB1 gene SCARB1 Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal High density lipoprotein cholesterol level QTL6 MIM#610762;Scavenger receptor class B type I deficiency;Inherited hypolipidaemias Abnormality of metabolism/homeostasis;HP:0001939 21226579;30720493;21480869;26965621;27604308 False 2 100;0;0 8.460 True ENSG00000073060 ENSG00000073060 HGNC:1664 SCP2 gene SCP2 Expert Review Amber;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724 Abnormality of metabolism/homeostasis;HP:0001939 16685654;26497993 False 2 0;50;50 8.460 True ENSG00000116171 ENSG00000116171 HGNC:10606 SGMS1 gene SGMS1 Expert Review Amber;Other Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 Abnormality of metabolism/homeostasis;HP:0001939 False 2 0;100;0 8.460 True ENSG00000198964 ENSG00000198964 HGNC:29799 SHPK gene SHPK Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Sedoheptulokinase deficiency MIM#617213 Abnormality of metabolism/homeostasis;HP:0001939 25647543;27604308 False 2 0;100;0 8.460 False ENSG00000197417 ENSG00000197417 HGNC:1492 SLC1A1 gene SLC1A1 Expert Review Amber;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal dicarboxylic aminoaciduria MONDO:0009110 Abnormality of metabolism/homeostasis;HP:0001939 21123949 False 2 0;100;0 8.460 True ENSG00000106688 ENSG00000106688 HGNC:10939 SLC1A1 gene SLC1A1 Expert Review Amber;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Dicarboxylic aminoaciduria, MIM#222730 Abnormality of metabolism/homeostasis;HP:0001939 21123949 False 2 0;100;0 8.460 True ENSG00000106688 ENSG00000106688 HGNC:10939 SLC25A10 gene SLC25A10 Expert Review Amber;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Intractable epileptic encephalopathy;Mitochondrial DNA depletion syndrome 19, MIM# 618972 Abnormality of metabolism/homeostasis;HP:0001939 29211846 False 2 0;100;0 8.460 True ENSG00000183048 ENSG00000183048 HGNC:10980 SLC25A21 gene SLC25A21 Expert Review Amber;NHS GMS;Expert Review Amber;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome-18 MIM#618811 Abnormality of metabolism/homeostasis;HP:0001939 29517768 False 2 0;100;0 8.460 True ENSG00000183032 ENSG00000183032 HGNC:14411 SLC26A2 gene SLC26A2 Expert Review Amber;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Skeletal dysplasia (various) Abnormality of metabolism/homeostasis;HP:0001939 11241838 False 2 0;100;0 8.460 True ENSG00000155850 ENSG00000155850 HGNC:10994 SLC36A2 gene SLC36A2 Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperglycinuria MIM#138500;Iminoglycinuria, digenic MIM#242600;Disorders of amino acid transport Abnormality of metabolism/homeostasis;HP:0001939 19033659;26141664;27604308 False 2 100;0;0 8.460 False ENSG00000186335 ENSG00000186335 HGNC:18762 SLC39A8 gene SLC39A8 Expert Review Amber;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type IIn MIM#616721" Abnormality of metabolism/homeostasis;HP:0001939 29453449;27995398 False 2 50;50;0 8.460 True ENSG00000138821 ENSG00000138821 HGNC:20862 SLC6A6 gene SLC6A6 Expert Review Amber;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hypotaurinemic retinal degeneration and cardiomyopathy MONDO:0007777 Abnormality of metabolism/homeostasis;HP:0001939 31903486;31345061 False 2 0;100;0 8.460 True ENSG00000131389 ENSG00000131389 HGNC:11052 SLC9A7 gene SLC9A7 Expert Review Amber;Expert list Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked 108, OMIM #301024 Abnormality of metabolism/homeostasis;HP:0001939 30335141 False 2 0;100;0 8.460 True ENSG00000065923 ENSG00000065923 HGNC:17123 SQOR gene SQOR Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Leigh-like disorder;Sulfide:quinone oxidoreductase deficiency (SQORD), MIM#619221 Abnormality of metabolism/homeostasis;HP:0001939 32160317 False 2 0;100;0 8.460 True ENSG00000137767 ENSG00000137767 HGNC:20390 SSR3 gene SSR3 Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation Abnormality of metabolism/homeostasis;HP:0001939 30945312 False 2 0;100;0 8.460 True ENSG00000114850 ENSG00000114850 HGNC:11325 STAT1 gene STAT1 Expert Review Amber;Expert Review Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome MONDO:0013599 Abnormality of metabolism/homeostasis;HP:0001939 23534974;33027576 False 2 0;100;0 8.460 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000115415 ENSG00000115415 HGNC:11362 STRA6 gene STRA6 Expert Review Amber Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Matthew-Wood syndrome MONDO:0011010;Other disorders of vitamin metabolism Abnormality of metabolism/homeostasis;HP:0001939 21901792, 18316031, 24852372 False 2 0;0;0 8.460 False ENSG00000137868 ENSG00000137868 HGNC:30650 STX5 gene STX5 Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal congenital disorder of glycosylation MONDO#0015286, STX5-related Abnormality of metabolism/homeostasis;HP:0001939 34711829 False 2 0;100;0 8.460 True ENSG00000162236 ENSG00000162236 HGNC:11440 SUGCT gene SUGCT Expert Review Amber;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal glutaric acidemia type 3 MONDO:0009283 Abnormality of metabolism/homeostasis;HP:0001939 18926513;28766179;29421601 False 2 0;100;0 8.460 True ENSG00000175600 ENSG00000175600 HGNC:16001 SUGCT gene SUGCT Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glutaric aciduria III MIM#231690;Organic acidurias Abnormality of metabolism/homeostasis;HP:0001939 28766179;18926513;33483254;32779420;27604308 False 2 100;0;0 8.460 True ENSG00000175600 ENSG00000175600 HGNC:16001 TCN1 gene TCN1 Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal transcobalamin I deficiency MONDO:0008659 Abnormality of metabolism/homeostasis;HP:0001939 19686235 False 2 0;100;0 8.460 True ENSG00000134827 ENSG00000134827 HGNC:11652 TFRC gene TFRC Expert Review Amber Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of iron metabolism;TFRC-related combined immunodeficiency MONDO:0014760 Abnormality of metabolism/homeostasis;HP:0001939 26642240 False 2 0;0;0 8.460 False ENSG00000072274 ENSG00000072274 HGNC:11763 TIMM22 gene TIMM22 Expert Review Amber;Expert Review Amber;NHS GMS;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hypotonia;gastroesophageal reflux disease Abnormality of metabolism/homeostasis;HP:0001939 30452684 False 2 0;100;0 8.460 True ENSG00000177370 ENSG00000177370 HGNC:17317 TMEM65 gene TMEM65 Expert Review Amber;Expert Review Amber;NHS GMS;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial encephalomyopathy Abnormality of metabolism/homeostasis;HP:0001939 28295037 False 2 0;100;0 8.460 True ENSG00000164983 ENSG00000164983 HGNC:25203 TOMM7 gene TOMM7 Expert Review Amber;Literature;Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Garg-Mishra progeroid syndrome, MIM# 620601 Abnormality of metabolism/homeostasis;HP:0001939 36299998;36282599 False 2 0;100;0 8.460 True ENSG00000196683 ENSG00000196683 HGNC:21648 TOMM70 gene TOMM70 Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Severe anaemia;Lactic acidosis;Developmental delay Abnormality of metabolism/homeostasis;HP:0001939 31907385 False 2 0;100;0 8.460 True ENSG00000154174 ENSG00000154174 HGNC:11985 TRAPPC11 gene TRAPPC11 Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 18 MIM# 615356 Abnormality of metabolism/homeostasis;HP:0001939 23830518;26322222;29855340;30105108;26912795;27707803;27862579;28484880 False 2 50;50;0 8.460 True ENSG00000168538 ENSG00000168538 HGNC:25751 TXN2 gene TXN2 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 29, MIM# 616811 Abnormality of metabolism/homeostasis;HP:0001939 26626369;12529397 False 2 0;100;0 8.460 True ENSG00000100348 ENSG00000100348 HGNC:17772 UQCC3 gene UQCC3 Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 9, MIM# 616111 Abnormality of metabolism/homeostasis;HP:0001939 25008109;28804536 False 2 0;100;0 8.460 True ENSG00000204922 ENSG00000204922 HGNC:34399 UQCRH gene UQCRH Expert Review Amber;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 11, MIM#620137 Abnormality of metabolism/homeostasis;HP:0001939 34750991 False 2 0;100;0 8.460 True ENSG00000173660 ENSG00000173660 HGNC:12590 UQCRQ gene UQCRQ Expert Review Amber;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 4, MIM# 615159 Abnormality of metabolism/homeostasis;HP:0001939 18439546 False 2 0;100;0 8.460 True ENSG00000164405 ENSG00000164405 HGNC:29594 UROC1 gene UROC1 Expert Review Amber;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal urocanic aciduria MONDO:0010167 Abnormality of metabolism/homeostasis;HP:0001939 19304569;30619714;32439973;27391121 False 2 0;100;0 8.460 True ENSG00000159650 ENSG00000159650 HGNC:26444 UROC1 gene UROC1 Expert Review Amber;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Urocanase deficiency, MIM#276880 Abnormality of metabolism/homeostasis;HP:0001939 19304569;30619714 False 2 0;100;0 8.460 True ENSG00000159650 ENSG00000159650 HGNC:26444 USMG5 gene USMG5 Expert Review Amber;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6 MIM#618683 Abnormality of metabolism/homeostasis;HP:0001939 29917077;30240627 False 2 0;100;0 8.460 True ENSG00000173915 ENSG00000173915 HGNC:30889 YME1L1 gene YME1L1 Expert Review Amber;NHS GMS;Expert Review Amber;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Optic atrophy 11 MIM#617302 Abnormality of metabolism/homeostasis;HP:0001939 30544562;27495975 False 2 0;100;0 8.460 True ENSG00000136758 ENSG00000136758 HGNC:12843 ZNF143 gene ZNF143 Expert Review Amber;Literature;Expert Review Red;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylmalonic aciduria and homocystinuria MONDO:0016826 Abnormality of metabolism/homeostasis;HP:0001939 27349184;33845046;9009278;22268977;27349184;27349184 False 2 0;50;50 8.460 True ENSG00000166478 ENSG00000166478 HGNC:12928