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 AARS2 gene AARS2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 8 MIM#614096;Leukoencephalopathy, progressive, with ovarian failure MIM#615889;MONDO:0013570 Abnormality of metabolism/homeostasis;HP:0001939 30706699;27839525;21549344;25058219;24808023 False 3 100;0;0 8.460 True ENSG00000124608 ENSG00000124608 HGNC:21022 AASS gene AASS Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hyperlysinemia MONDO:0009388 Abnormality of metabolism/homeostasis;HP:0001939 23890588;10775527;27604308;23570448;35135854 False 3 100;0;0 8.460 True ENSG00000008311 ENSG00000008311 HGNC:17366 ABAT gene ABAT Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal mtDNA depletion syndrome (MDS) Abnormality of metabolism/homeostasis;HP:0001939 25738457;27903293 False 3 100;0;0 8.460 True ENSG00000183044 ENSG00000183044 HGNC:23 ABAT gene ABAT Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal GABA-transaminase deficiency, MIM# 613163 Abnormality of metabolism/homeostasis;HP:0001939 28411234;27596361;20052547;10407778;6148708 False 3 100;0;0 8.460 True ENSG00000183044 ENSG00000183044 HGNC:23 ABCA1 gene ABCA1 Expert Review Green;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Tangier disease, MIM# 205400;HDL deficiency, familial, 1, MIM# 604091 Abnormality of metabolism/homeostasis;HP:0001939 10431237;10431236 False 3 100;0;0 8.460 True ENSG00000165029 ENSG00000165029 HGNC:29 ABCB11 gene ABCB11 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal progressive familial intrahepatic cholestasis type 2 MONDO:0011156;Disorders of bile acid metabolism Abnormality of metabolism/homeostasis;HP:0001939 9806540 False 3 0;0;0 8.460 False ENSG00000073734 ENSG00000073734 HGNC:42 ABCB11 gene ABCB11 Expert Review Green;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 2 MIM#601847;disorder of bile acid metabolism Abnormality of metabolism/homeostasis;HP:0001939 9806540 False 3 100;0;0 8.460 True ENSG00000073734 ENSG00000073734 HGNC:42 ABCB4 gene ABCB4 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 3 MIM#602347;disorder of bile acid metabolism Abnormality of metabolism/homeostasis;HP:0001939 8666348 False 3 100;0;0 8.460 True ENSG00000005471 ENSG00000005471 HGNC:45 ABCB4 gene ABCB4 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of bile acid metabolism;progressive familial intrahepatic cholestasis type 3 MONDO:0011214 Abnormality of metabolism/homeostasis;HP:0001939 8666348 False 3 0;0;0 8.460 False ENSG00000005471 ENSG00000005471 HGNC:45 ABCB7 gene ABCB7 NHS Genomic Medicine Service;Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females 301310 Anemia, sideroblastic, with ataxia Abnormality of metabolism/homeostasis;HP:0001939 10196363;30401706;29787825 False 3 0;0;0 8.460 False ENSG00000131269 ENSG00000131269 HGNC:48 ABCB7 gene ABCB7 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Anaemia, sideroblastic, with ataxia, MIM# 301310 Abnormality of metabolism/homeostasis;HP:0001939 10196363;10196363;33157103;31772327;31511561;26242992 False 3 100;0;0 8.460 True ENSG00000131269 ENSG00000131269 HGNC:48 ABCC2 gene ABCC2 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of haem degradation and bilirubin metabolism;Dubin-Johnson syndrome MONDO:0009380 Abnormality of metabolism/homeostasis;HP:0001939 21044052, 11477083 False 3 0;0;0 8.460 False ENSG00000023839 ENSG00000023839 HGNC:53 ABCC6 gene ABCC6 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Abnormality of metabolism/homeostasis;HP:0001939 28102862;11536079;33005041;34355424 False 3 100;0;0 8.460 False ENSG00000091262 ENSG00000091262 HGNC:57 ABCC8 gene ABCC8 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal permanent neonatal diabetes mellitus MONDO:0100164;transient neonatal diabetes mellitus MONDO:0020525 Abnormality of metabolism/homeostasis;HP:0001939 21054355;32027066;32376986 False 3 100;0;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 ENSG00000006071 ENSG00000006071 HGNC:59 ABCD1 gene ABCD1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females adrenoleukodystrophy (MONDO:0018544) Abnormality of metabolism/homeostasis;HP:0001939 15811009;8651290;7825602;21700483 False 3 100;0;0 8.460 True ENSG00000101986 ENSG00000101986 HGNC:61 ABCD4 gene ABCD4 Expert Review Green;Literature;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857;disorder of vitamin B12 metabolism" Abnormality of metabolism/homeostasis;HP:0001939 22922874;31113616;30651581;28572511 False 3 100;0;0 8.460 True ENSG00000119688 ENSG00000119688 HGNC:68 ABCG5 gene ABCG5 Expert Review Green;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Sitosterolaemia 2, MIM# 618666 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000138075 ENSG00000138075 HGNC:13886 ABCG8 gene ABCG8 Royal Melbourne Hospital;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Sitosterolemia Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000143921 ENSG00000143921 HGNC:13887 ABHD12 gene ABHD12 Expert Review Green;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674;disorder of of endocannabinoid metabolism Abnormality of metabolism/homeostasis;HP:0001939 20797687 False 3 100;0;0 8.460 True ENSG00000100997 ENSG00000100997 HGNC:15868 ABHD5 gene ABHD5 Expert Review Green;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Chanarin-Dorfman syndrome MIM#275630;neutral lipid storage disease with ichthyosis;lipid metabolism Abnormality of metabolism/homeostasis;HP:0001939 30795549 False 3 100;0;0 8.460 True ENSG00000011198 ENSG00000011198 HGNC:21396 ACAD8 gene ACAD8 Expert Review Green;Literature;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal isobutyryl-CoA dehydrogenase deficiency MONDO:0012648 Abnormality of metabolism/homeostasis;HP:0001939 29152456;34544473;12359132;17304052 False 3 100;0;0 8.460 True ENSG00000151498 ENSG00000151498 HGNC:87 ACAD9 gene ACAD9 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 20, MIM# 611126 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000177646 ENSG00000177646 HGNC:21497 ACAD9 gene ACAD9 Expert Review Green;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 20 MIM#611126 Abnormality of metabolism/homeostasis;HP:0001939 30025539 False 3 100;0;0 8.460 True ENSG00000177646 ENSG00000177646 HGNC:21497 ACADM gene ACADM Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, medium chain, deficiency of, MIM# 201450 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000117054 ENSG00000117054 HGNC:89 ACADM gene ACADM Expert Review Green;Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, medium chain, deficiency of MIM#201450 Abnormality of metabolism/homeostasis;HP:0001939 25778941;1972503;26223887 False 3 100;0;0 8.460 True ENSG00000117054 ENSG00000117054 HGNC:89 ACADM gene ACADM Expert Review Green;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Acyl-CoA dehydrogenase, medium chain, deficiency of 201450" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000117054 ENSG00000117054 HGNC:89 ACADSB gene ACADSB Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 2-methylbutyryl-CoA dehydrogenase deficiency MONDO:0012392 Abnormality of metabolism/homeostasis;HP:0001939 25778941;17945527;29152456 False 3 100;0;0 8.460 True ENSG00000196177 ENSG00000196177 HGNC:91 ACADSB gene ACADSB Expert Review Green;Expert Review Green;Literature;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 2-methylbutyrylglycinuria MIM#610006 Abnormality of metabolism/homeostasis;HP:0001939 25778941;17945527 False 3 100;0;0 8.460 True ENSG00000196177 ENSG00000196177 HGNC:91 ACADSB gene ACADSB Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 2-methylbutyrylglycinuria MIM#610006 Abnormality of metabolism/homeostasis;HP:0001939 11013134;17945527;30730842 False 3 100;0;0 8.460 True ENSG00000196177 ENSG00000196177 HGNC:91 ACADVL gene ACADVL Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency, MIM# 201475 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000072778 ENSG00000072778 HGNC:92 ACADVL gene ACADVL Expert Review Green;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "VLCAD deficiency 201475" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000072778 ENSG00000072778 HGNC:92 ACADVL gene ACADVL Expert Review Green;Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency MIM#201475 Abnormality of metabolism/homeostasis;HP:0001939 25778941;8845838;29459657 False 3 100;0;0 8.460 True ENSG00000072778 ENSG00000072778 HGNC:92 ACAT1 gene ACAT1 Expert Review Green;Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Alpha-methylacetoacetic aciduria MIM#203750" Abnormality of metabolism/homeostasis;HP:0001939 31268215;25778941;1715688 False 3 100;0;0 8.460 True ENSG00000075239 ENSG00000075239 HGNC:93 ACAT1 gene ACAT1 Expert Review Green;Literature;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal beta-ketothiolase deficiency MONDO:0008760 Abnormality of metabolism/homeostasis;HP:0001939 29152456 False 3 100;0;0 8.460 True ENSG00000075239 ENSG00000075239 HGNC:93 ACAT1 gene ACAT1 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Alpha-methylacetoacetic aciduria, MIM#203750;Deficiency of acetyl-CoA acetyltransferase;Beta-ketothiolase deficiency MONDO:0008760 Abnormality of metabolism/homeostasis;HP:0001939 17236799;1715688 False 3 100;0;0 8.460 True ENSG00000075239 ENSG00000075239 HGNC:93 ACBD5 gene ACBD5 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy with leukodystrophy (MIM#618863) Abnormality of metabolism/homeostasis;HP:0001939 27799409;23105016 False 3 100;0;0 8.460 True ENSG00000107897 ENSG00000107897 HGNC:23338 ACO2 gene ACO2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Infantile cerebellar-retinal degeneration, MIM#614559;Optic atrophy 9, MIM# 616289 Abnormality of metabolism/homeostasis;HP:0001939 22405087;25351951;30689204;32519519;25351951;34056600 False 3 100;0;0 8.460 True ENSG00000100412 ENSG00000100412 HGNC:118 ACOX1 gene ACOX1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 True ENSG00000161533 ENSG00000161533 HGNC:119 ACOX2 gene ACOX2 Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 6, 617308 Abnormality of metabolism/homeostasis;HP:0001939 27647924;27884763;29287774;35395098 False 3 67;33;0 8.460 True ENSG00000168306 ENSG00000168306 HGNC:120 ACSF3 gene ACSF3 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal combined malonic and methylmalonic acidemia MONDO:0013661 Abnormality of metabolism/homeostasis;HP:0001939 21785126, 26915364, 30740739, 26827111, 27604308, 21841779 False 3 100;0;0 8.460 True ENSG00000176715 ENSG00000176715 HGNC:27288 ACY1 gene ACY1 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Aminoacylase 1 deficiency MIM#609924;disorder of amino acid metabolism Abnormality of metabolism/homeostasis;HP:0001939 16465618;17562838;24117009 False 3 100;0;0 8.460 True ENSG00000243989 ENSG00000243989 HGNC:177 ACY1 gene ACY1 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal aminoacylase 1 deficiency MONDO:0012368 Abnormality of metabolism/homeostasis;HP:0001939 4997716;24117009;16465618;17562838;21414403;16274666;20480396 False 3 100;0;0 8.460 True ENSG00000243989 ENSG00000243989 HGNC:177 ADA gene ADA Expert Review Green;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency due to ADA deficiency MIM#102700;Adenosine deaminase deficiency, partial MIM#102700;disorder of purine metabolism Abnormality of metabolism/homeostasis;HP:0001939 3684597;3475710;2783588;1680289 False 3 100;0;0 8.460 False ENSG00000196839 ENSG00000196839 HGNC:186 ADA gene ADA Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Adenosine deaminase deficiency, partial MIM#102700;Severe combined immunodeficiency due to ADA deficiency MIM#102700;disorder of purine metabolism Abnormality of metabolism/homeostasis;HP:0001939 3475710;3684597;2783588;1680289 False 3 100;0;0 8.460 True ENSG00000196839 ENSG00000196839 HGNC:186 ADA2 gene ADA2 Expert Review Green;Expert Review Green;Expert Review Green;Literature;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of purine metabolism;Deficiency of adenosine deaminase 2 MONDO:0100317 Abnormality of metabolism/homeostasis;HP:0001939 24552284;35095905 False 3 100;0;0 8.460 False ENSG00000093072 ENSG00000093072 HGNC:1839 ADAR gene ADAR Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of ectonucleotide and nucleic acid metabolism;Aicardi-Goutieres syndrome MONDO:0018866 Abnormality of metabolism/homeostasis;HP:0001939 29221912;23001123;24262145 False 3 100;0;0 8.460 False ENSG00000160710 ENSG00000160710 HGNC:225 ADK gene ADK Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal adenosine kinase deficiency MONDO:0100255 Abnormality of metabolism/homeostasis;HP:0001939 21963049;26642971;33309011;27671891 False 3 100;0;0 8.460 True ENSG00000156110 ENSG00000156110 HGNC:257 ADSL gene ADSL Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal disorder of purine metabolism;Adenylosuccinase deficiency MIM#103050 Abnormality of metabolism/homeostasis;HP:0001939 1302001;22180458;27626380;18524658 False 3 100;0;0 8.460 False ENSG00000239900 ENSG00000239900 HGNC:291 ADSL gene ADSL Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Adenylosuccinase deficiency MIM#103050;disorder of purine metabolism Abnormality of metabolism/homeostasis;HP:0001939 1302001;22180458;18524658;27626380 False 3 100;0;0 8.460 True ENSG00000239900 ENSG00000239900 HGNC:291 AFG3L2 gene AFG3L2 Expert Review Green;Expert list;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic ataxia 5, autosomal recessive (MIM#614487);Spinocerebellar ataxia 28 (MIM#610246);Optic atrophy 12, MIM# 618977 Abnormality of metabolism/homeostasis;HP:0001939 29181157;26539208;30252181;30389403;32219868;32600459;32548275;20725928 False 3 100;0;0 8.460 True ENSG00000141385 ENSG00000141385 HGNC:315 AGA gene AGA Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Aspartylglucosaminuria, MIM# 208400;MONDO:0008830 Abnormality of metabolism/homeostasis;HP:0001939 1703489;1904874;8064811;8946839 False 3 100;0;0 8.460 True ENSG00000038002 ENSG00000038002 HGNC:318 AGA gene AGA Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Canavan disease MONDO:0010079 Abnormality of metabolism/homeostasis;HP:0001939 8252036, 20301412 False 3 100;0;0 8.460 True ENSG00000038002 ENSG00000038002 HGNC:318 AGK gene AGK Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000006530 ENSG00000006530 HGNC:21869 AGL gene AGL Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IIIa and IIIb, MIM# 232400 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000162688 ENSG00000162688 HGNC:321 AGPAT2 gene AGPAT2 Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal congenital generalized lipodystrophy type 1 MONDO:0012071 Abnormality of metabolism/homeostasis;HP:0001939 33651552;30296183;35857714;21847459 False 3 100;0;0 8.460 True ENSG00000169692 ENSG00000169692 HGNC:325 AGPS gene AGPS Victorian Clinical Genetics Services;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000018510 ENSG00000018510 HGNC:327 AGXT gene AGXT Victorian Clinical Genetics Services;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000172482 ENSG00000172482 HGNC:341 AHCY gene AHCY Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0013404 Abnormality of metabolism/homeostasis;HP:0001939 13641268;15024124;16736098;20852937;22959829;30121674;26527160;26095522;27848944;31957987;35463910 False 3 100;0;0 8.460 True ENSG00000101444 ENSG00000101444 HGNC:343 AHCY gene AHCY Expert Review Green;NHS GMS;Expert Review Green;Expert list;Victorian Clinical Genetics Services;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752;disorder of methionine metabolism Abnormality of metabolism/homeostasis;HP:0001939 28779239;26095522;20852937;15024124;27626380 False 3 100;0;0 8.460 True ENSG00000101444 ENSG00000101444 HGNC:343 AICDA gene AICDA Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hyper-IgM syndrome type 2 MONDO:0011528;Disorders of ectonucleotide and nucleic acid metabolism Abnormality of metabolism/homeostasis;HP:0001939 10373455;21700883;14962793 False 3 100;0;0 8.460 False ENSG00000111732 ENSG00000111732 HGNC:13203 AIFM1 gene AIFM1 Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000156709 ENSG00000156709 HGNC:8768 AK1 gene AK1 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hemolytic anemia due to adenylate kinase deficiency MONDO:0012967;Disorders of purine metabolism Abnormality of metabolism/homeostasis;HP:0001939 2542324;34321014;9432020;10233365 False 3 100;0;0 8.460 False ENSG00000106992 ENSG00000106992 HGNC:361 AK2 gene AK2 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal reticular dysgenesis MONDO:0009973;Disorders of purine metabolism Abnormality of metabolism/homeostasis;HP:0001939 19043417;19043416 False 3 100;0;0 8.460 False ENSG00000004455 ENSG00000004455 HGNC:362 AKR1D1 gene AKR1D1 Expert Review Green;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 2 MIM#235555;disorder of bile acid metabolism Abnormality of metabolism/homeostasis;HP:0001939 12970144;20522910;15030995 False 3 100;0;0 8.460 True ENSG00000122787 ENSG00000122787 HGNC:388 ALAD gene ALAD Expert Review Green;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Porphyria, acute hepatic 612740;{Lead poisoning, susceptibility to} 612740;Acute hepatic porphyria (Acute neuropathic porphyrias) Abnormality of metabolism/homeostasis;HP:0001939 16343966;30724374;31311713 False 3 100;0;0 8.460 True ENSG00000148218 ENSG00000148218 HGNC:395 ALAS2 gene ALAS2 NHS Genomic Medicine Service;Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females 300752 Protoporphyria, erythropoietic, X-linked;Sideroblastic anaemia - increased serum ferritin;300751 Anemia, sideroblastic, 1 Abnormality of metabolism/homeostasis;HP:0001939 24003969;30401706;10029606;30098397 False 3 0;0;0 8.460 False ENSG00000158578 ENSG00000158578 HGNC:397 ALAS2 gene ALAS2 Expert Review Green;Royal Melbourne Hospital 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) Protoporphyria, erythropoietic, X-linked, 300752;Anemia, sideroblastic, X-linked, 300751 Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 True ENSG00000158578 ENSG00000158578 HGNC:397 ALDH18A1 gene ALDH18A1 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIIA MIM#219150;Spastic paraplegia 9A, autosomal dominant MIM#601162;Spastic paraplegia 9B, autosomal recessive MIM#616586;Cutis laxa, autosomal dominant 3 MIM#616603;disorders of ornithine or proline metabolism Abnormality of metabolism/homeostasis;HP:0001939 32221810;11092761;29754261;26026163 False 3 100;0;0 8.460 True ENSG00000059573 ENSG00000059573 HGNC:9722 ALDH18A1 gene ALDH18A1 Expert Review Green;Genomics England PanelApp;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIIA (Delta-1-pyrroline 5 carboxylic acid synthetase deficiency) 219150 Abnormality of metabolism/homeostasis;HP:0001939 24767728;11092761 False 3 100;0;0 8.460 False ENSG00000059573 ENSG00000059573 HGNC:9722 ALDH18A1 gene ALDH18A1 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal P5CS deficiency MONDO:0100126 Abnormality of metabolism/homeostasis;HP:0001939 32017139;26026163;26320891 False 3 100;0;0 8.460 True ENSG00000059573 ENSG00000059573 HGNC:9722 ALDH3A2 gene ALDH3A2 Expert Review Green;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Sjogren-Larsson syndrome MIM#270200;disorder of lipid metabolism Abnormality of metabolism/homeostasis;HP:0001939 8528251;31273323 False 3 100;0;0 8.460 True ENSG00000072210 ENSG00000072210 HGNC:403 ALDH4A1 gene ALDH4A1 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hyperprolinemia type 2 MONDO:0009401 Abnormality of metabolism/homeostasis;HP:0001939 2624476;13835167;4369405;8621661 False 3 100;0;0 8.460 True ENSG00000159423 ENSG00000159423 HGNC:406 ALDH4A1 gene ALDH4A1 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperprolinemia, type II MIM#239510;disorders of ornithine or proline metabolism Abnormality of metabolism/homeostasis;HP:0001939 9700195;31884946 False 3 100;0;0 8.460 True ENSG00000159423 ENSG00000159423 HGNC:406 ALDH5A1 gene ALDH5A1 Expert Review Green;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Succinic semialdehyde dehydrogenase deficiency MIM#271980;disorder of neurotransmitter metabolism Abnormality of metabolism/homeostasis;HP:0001939 9683595;14635103;32887777 False 3 100;0;0 8.460 True ENSG00000112294 ENSG00000112294 HGNC:408 ALDH5A1 gene ALDH5A1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Abnormality of metabolism/homeostasis;HP:0001939 9683595;14635103;32402538 False 3 100;0;0 8.460 True ENSG00000112294 ENSG00000112294 HGNC:408 ALDH6A1 gene ALDH6A1 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonate semialdehyde dehydrogenase deficiency MIM#614105;disorder of valine and pyrimidine metabolism Abnormality of metabolism/homeostasis;HP:0001939 32151545;10947204;21863277;23835272 False 3 100;0;0 8.460 True ENSG00000119711 ENSG00000119711 HGNC:7179 ALDH6A1 gene ALDH6A1 Expert Review Green;Literature;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylmalonate semialdehyde dehydrogenase deficiency MONDO:0013579 Abnormality of metabolism/homeostasis;HP:0001939 29152456;32151545;10947204;21863277;23835272 False 3 100;0;0 8.460 True ENSG00000119711 ENSG00000119711 HGNC:7179 ALDH7A1 gene ALDH7A1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, pyridoxine-dependent, MIM# 266100 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000164904 ENSG00000164904 HGNC:877 ALDH7A1 gene ALDH7A1 Expert Review Green;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, pyridoxine-dependent MM#266100;disorder of lysine metabolism Abnormality of metabolism/homeostasis;HP:0001939 16491085;17068770 False 3 100;0;0 8.460 True ENSG00000164904 ENSG00000164904 HGNC:877 ALDH7A1 gene ALDH7A1 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal pyridoxine-dependent epilepsy MONDO:0009945 Abnormality of metabolism/homeostasis;HP:0001939 19142996;16491085;22784480;29053735 False 3 100;0;0 8.460 True ENSG00000164904 ENSG00000164904 HGNC:877 ALDOA gene ALDOA Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XII , MIM#611881 Abnormality of metabolism/homeostasis;HP:0001939 7331996;8598869;25392908 False 3 100;0;0 8.460 True ENSG00000149925 ENSG00000149925 HGNC:414 ALDOB gene ALDOB Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Fructose intolerance, hereditary, MIM# 229600 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000136872 ENSG00000136872 HGNC:417 ALG1 gene ALG1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type Ik 608540" Abnormality of metabolism/homeostasis;HP:0001939 26931382 False 3 100;0;0 8.460 True ENSG00000033011 ENSG00000033011 HGNC:18294 ALG11 gene ALG11 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type Ip, MIM# 613661" Abnormality of metabolism/homeostasis;HP:0001939 30676690 False 3 100;0;0 8.460 True ENSG00000253710 ENSG00000253710 HGNC:32456 ALG12 gene ALG12 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type Ig 607143" Abnormality of metabolism/homeostasis;HP:0001939 31481313 False 3 100;0;0 8.460 True ENSG00000182858 ENSG00000182858 HGNC:19358 ALG13 gene ALG13 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital disorder of glycosylation, type Is (MIM# 300884) Abnormality of metabolism/homeostasis;HP:0001939 22492991;28887793;26138355;31444733;23033978;23934111;24781210;24896178;25732998;26138355;26482601;28940310;32238909 False 3 67;33;0 8.460 True ENSG00000101901 ENSG00000101901 HGNC:30881 ALG14 gene ALG14 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 15, without tubular aggregates 616227;Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031;Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036;Disorder of N-glycosylation Abnormality of metabolism/homeostasis;HP:0001939 30221345;23404334;28733338 False 3 100;0;0 8.460 True ENSG00000172339 ENSG00000172339 HGNC:28287 ALG3 gene ALG3 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Id, MIM# 601110 Abnormality of metabolism/homeostasis;HP:0001939 31067009 False 3 100;0;0 8.460 True ENSG00000214160 ENSG00000214160 HGNC:23056 ALG6 gene ALG6 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ic (MIM#603147) Abnormality of metabolism/homeostasis;HP:0001939 10914684;27498540 False 3 100;0;0 8.460 True ENSG00000088035 ENSG00000088035 HGNC:23157 ALG8 gene ALG8 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ih, MIM# 608104 Abnormality of metabolism/homeostasis;HP:0001939 26066342 False 3 100;0;0 8.460 True ENSG00000159063 ENSG00000159063 HGNC:23161 ALG9 gene ALG9 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Il, MIM#608776;Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210 Abnormality of metabolism/homeostasis;HP:0001939 28932688;25966638;26453364 False 3 100;0;0 8.460 True ENSG00000086848 ENSG00000086848 HGNC:15672 ALMS1 gene ALMS1 Royal Melbourne Hospital;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Alstrom syndrome Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000116127 ENSG00000116127 HGNC:428 ALMS1 gene ALMS1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Alstrom syndrome MONDO:0008763 Abnormality of metabolism/homeostasis;HP:0001939 11941369;17594715 False 3 100;0;0 8.460 True ENSG00000116127 ENSG00000116127 HGNC:428 ALPL gene ALPL Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypophosphatasia;disorder of bone metabolism Abnormality of metabolism/homeostasis;HP:0001939 3174660;1409720 False 3 100;0;0 8.460 True ENSG00000162551 ENSG00000162551 HGNC:438 AMACR gene AMACR Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 4, MIM# 214950;Alpha-methylacyl-CoA racemase deficiency, MIM# 614307 Abnormality of metabolism/homeostasis;HP:0001939 35641312;35428665 False 3 100;0;0 8.460 True ENSG00000242110 ENSG00000242110 HGNC:451 AMACR gene AMACR Victorian Clinical Genetics Services;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000242110 ENSG00000242110 HGNC:451 AMN gene AMN Expert Review Green;Literature;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Imerslund-Grasbeck syndrome 2 MIM#618882;Disorders of cobalamin absorption, transport and metabolism Abnormality of metabolism/homeostasis;HP:0001939 12590260;27604308 False 3 100;0;0 8.460 True ENSG00000166126 ENSG00000166126 HGNC:14604 AMPD2 gene AMPD2 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal pontocerebellar hypoplasia type 9 MONDO:0014351;Disorders of purine metabolism Abnormality of metabolism/homeostasis;HP:0001939 27066553;23911318 False 3 100;0;0 8.460 False ENSG00000116337 ENSG00000116337 HGNC:469 AMT gene AMT Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy MIM#605899;disorder of glycine metabolism Abnormality of metabolism/homeostasis;HP:0001939 8188235;10873393;11592811 False 3 100;0;0 8.460 True ENSG00000145020 ENSG00000145020 HGNC:473 AMT gene AMT Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal glycine encephalopathy MONDO:0011612 Abnormality of metabolism/homeostasis;HP:0001939 27362913;8005589;25231368;26179960;26371980;27164344;6863283;18941301 False 3 100;0;0 8.460 True ENSG00000145020 ENSG00000145020 HGNC:473 ANGPTL3 gene ANGPTL3 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hypobetalipoproteinemia, familial, 2 MIM#605019 Abnormality of metabolism/homeostasis;HP:0001939 23150577;20942659;22155345;22062970 False 3 100;0;0 8.460 False ENSG00000132855 ENSG00000132855 HGNC:491 AP1S1 gene AP1S1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal MEDNIK syndrome MONDO:0012251;Disorders of copper metabolism Abnormality of metabolism/homeostasis;HP:0001939 31399000 False 3 0;0;0 8.460 False ENSG00000106367 ENSG00000106367 HGNC:559 AP5Z1 gene AP5Z1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of autophagy;hereditary spastic paraplegia MONDO:0019064 Abnormality of metabolism/homeostasis;HP:0001939 26085577;29884839 False 3 0;0;0 8.460 False ENSG00000242802 ENSG00000242802 HGNC:22197 APOA1 gene APOA1 Expert Review Green;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypoalphalipoproteinaemia, primary, 2, intermediate, MIM# 619836 Abnormality of metabolism/homeostasis;HP:0001939 16023124 False 3 100;0;0 8.460 True ENSG00000118137 ENSG00000118137 HGNC:600 APOA5 gene APOA5 Royal Melbourne Hospital;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperchylomicronemia Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000110243 ENSG00000110243 HGNC:17288 APOB gene APOB Royal Melbourne Hospital;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypobetalipoproteinemia, Hypercholesterolemia Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000084674 ENSG00000084674 HGNC:603 APOC2 gene APOC2 Expert Review Green;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Hyperlipoproteinemia, type Ib MIM#207750" Abnormality of metabolism/homeostasis;HP:0001939 PMID: 32562799;26044956;32292609;32280258 False 3 100;0;0 8.460 True ENSG00000234906 ENSG00000234906 HGNC:609 APOE gene APOE Royal Melbourne Hospital;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Sea-blue histiocyte disease, Dysbetalipoproteinemia, familial (Hyperlipoproteinemia), Lipoprotein glomerulopathy Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000130203 ENSG00000130203 HGNC:613 APOPT1 gene APOPT1 Expert Review Green;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 17, MIM#619061 Abnormality of metabolism/homeostasis;HP:0001939 25175347 False 3 100;0;0 8.460 True ENSG00000256053 ENSG00000256053 HGNC:20492 APRT gene APRT Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal adenine phosphoribosyltransferase deficiency MONDO:0013869;Disorders of purine metabolism Abnormality of metabolism/homeostasis;HP:0001939 7915931;2227934;1353080;3680503 False 3 100;0;0 8.460 False ENSG00000198931 ENSG00000198931 HGNC:626 APTX gene APTX Expert Review Green;Expert Review Green;Expert list;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia MIM#208920 Abnormality of metabolism/homeostasis;HP:0001939 30986824;26256098 False 3 100;0;0 8.460 True ENSG00000137074 ENSG00000137074 HGNC:15984 ARG1 gene ARG1 Expert Review Green;Genomics England PanelApp;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Argininemia 207800 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000118520 ENSG00000118520 HGNC:663 ARG1 gene ARG1 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Argininemia MIM#207800;Urea cycle disorders and inherited hyperammonaemias;disorder of arginine metabolism Abnormality of metabolism/homeostasis;HP:0001939 2365823;1598908;29726057 False 3 100;0;0 8.460 True ENSG00000118520 ENSG00000118520 HGNC:663 ARG1 gene ARG1 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hyperargininemia MONDO:0008814 Abnormality of metabolism/homeostasis;HP:0001939 16747805;23859858;1463019;1598908;12052859;23920045 False 3 100;0;0 8.460 True ENSG00000118520 ENSG00000118520 HGNC:663 ARSA gene ARSA Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy, MIM# 250100;MONDO:0009591 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000100299 ENSG00000100299 HGNC:713 ARSB gene ARSB Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200;MONDO:0009661 Abnormality of metabolism/homeostasis;HP:0001939 11668612 False 3 100;0;0 8.460 True ENSG00000113273 ENSG00000113273 HGNC:714 ARSE gene ARSE Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Chondrodysplasia punctata, X-linked recessive (MIM#302950) Abnormality of metabolism/homeostasis;HP:0001939 23470839 False 3 0;100;0 8.460 True ENSG00000157399 ENSG00000157399 HGNC:719 ARSK gene ARSK Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis MONDO:0019249, ARSK-related Abnormality of metabolism/homeostasis;HP:0001939 34916232;32856704 False 3 100;0;0 8.460 True ENSG00000164291 ENSG00000164291 HGNC:25239 ASAH1 gene ASAH1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Farber lipogranulomatosis, MIM# 228000 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000104763 ENSG00000104763 HGNC:735 ASL gene ASL Expert Review Green;NHS GMS;Expert Review Green;Expert list;Victorian Clinical Genetics Services;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Argininosuccinic aciduria MIM#207900;Urea cycle disorders and inherited hyperammonaemias;disorder of amino acid metabolism Abnormality of metabolism/homeostasis;HP:0001939 2263616;12384776 False 3 100;0;0 8.460 True ENSG00000126522 ENSG00000126522 HGNC:746 ASL gene ASL Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal argininosuccinic aciduria MONDO:0008815 Abnormality of metabolism/homeostasis;HP:0001939 2263616;17326097;19703900;12559843;22081021 False 3 100;0;0 8.460 True ENSG00000126522 ENSG00000126522 HGNC:746 ASL gene ASL Expert Review Green;Expert Review Green;Genomics England PanelApp;NHS GMS;Expert list;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Argininosuccinic aciduria 207900" Abnormality of metabolism/homeostasis;HP:0001939 2263616;12408190 False 3 100;0;0 8.460 False ENSG00000126522 ENSG00000126522 HGNC:746 ASNS gene ASNS Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome MONDO:0014258 Abnormality of metabolism/homeostasis;HP:0001939 29375865;25663424;25227173;29405484;28776279;30315573 False 3 100;0;0 8.460 True ENSG00000070669 ENSG00000070669 HGNC:753 ASPA gene ASPA Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Canavan disease MIM#271900;disorder of amino acid metabolism Abnormality of metabolism/homeostasis;HP:0001939 8252036;8023850 False 3 100;0;0 8.460 True ENSG00000108381 ENSG00000108381 HGNC:756 ASS1 gene ASS1 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Citrullinemia MIM#215700;Urea cycle disorders and inherited hyperammonaemias;disorder of amino acid metabolism Abnormality of metabolism/homeostasis;HP:0001939 19006241 False 3 100;0;0 8.460 True ENSG00000130707 ENSG00000130707 HGNC:758 ASS1 gene ASS1 Expert Review Green;Genomics England PanelApp;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Citrullinemia 215700" Abnormality of metabolism/homeostasis;HP:0001939 2358466 False 3 100;0;0 8.460 False ENSG00000130707 ENSG00000130707 HGNC:758 ASS1 gene ASS1 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal citrullinemia type I MONDO:0008988 Abnormality of metabolism/homeostasis;HP:0001939 19006241 False 3 100;0;0 8.460 True ENSG00000130707 ENSG00000130707 HGNC:758 ATAD3A gene ATAD3A Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Harel-Yoon syndrome, MIM# 617183;Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810 Abnormality of metabolism/homeostasis;HP:0001939 27640307;32004445;28549128 False 3 100;0;0 8.460 True Other ENSG00000197785 ENSG00000197785 HGNC:25567 ATIC gene ATIC Expert Review Green;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal AICA-ribosiduria due to ATIC deficiency MIM#608688;disorders of purine metabolism Abnormality of metabolism/homeostasis;HP:0001939 15114530;32557644 False 3 100;0;0 8.460 True ENSG00000138363 ENSG00000138363 HGNC:794 ATP13A2 gene ATP13A2 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 78, autosomal recessive 617225 Abnormality of metabolism/homeostasis;HP:0001939 28137957;31996848 False 3 100;0;0 8.460 True ENSG00000159363 ENSG00000159363 HGNC:30213 ATP5D gene ATP5D Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, MIM# 618120 Abnormality of metabolism/homeostasis;HP:0001939 29478781 False 3 100;0;0 8.460 True ENSG00000099624 ENSG00000099624 HGNC:837 ATP5E gene ATP5E Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3 MIM#614053 Abnormality of metabolism/homeostasis;HP:0001939 20566710;27626380;20026007;34954817 False 3 50;50;0 8.460 True ENSG00000124172 ENSG00000124172 HGNC:838 ATP5O gene ATP5O Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MIM# 620359 Abnormality of metabolism/homeostasis;HP:0001939 34954817;35621276 False 3 100;0;0 8.460 True ENSG00000241837 ENSG00000241837 HGNC:850 ATP6AP1 gene ATP6AP1 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "immunodeficiency-47 (MIM# 300972)" Abnormality of metabolism/homeostasis;HP:0001939 PMID: 27231034 False 3 100;0;0 8.460 True ENSG00000071553 ENSG00000071553 HGNC:868 ATP6AP2 gene ATP6AP2 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital disorder of glycosylation, type IIr, MIM# 301045 Abnormality of metabolism/homeostasis;HP:0001939 29127204;29388887 False 3 100;0;0 8.460 True ENSG00000182220 ENSG00000182220 HGNC:18305 ATP6V0A2 gene ATP6V0A2 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIA, MIM# 219200;Wrinkly skin syndrome, MIM#278250 Abnormality of metabolism/homeostasis;HP:0001939 29952037;22773132 False 3 100;0;0 8.460 True ENSG00000185344 ENSG00000185344 HGNC:18481 ATP7A gene ATP7A Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease MIM#309400;Occipital horn syndrome MIM#304150;disorder of copper matabolism Abnormality of metabolism/homeostasis;HP:0001939 7842019;8981948 False 3 100;0;0 8.460 True ENSG00000165240 ENSG00000165240 HGNC:869 ATP7A gene ATP7A Expert Review Green Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Disorders of copper metabolism;Menkes disease MONDO:0010651, occipital Horn Syndrome (OHS, OMIM #304150), X-linked distal spinal muscular atrophy-3 (SMAX3, OMIM #300489) Abnormality of metabolism/homeostasis;HP:0001939 20170900, 33137485, 31969342, 31558336 False 3 0;0;0 8.460 False ENSG00000165240 ENSG00000165240 HGNC:869 ATP7B gene ATP7B NHS Genomic Medicine Service;Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 277900 WILSON DISEASE Abnormality of metabolism/homeostasis;HP:0001939 24002824;18210110;27982432;28433102;24266916 False 3 0;0;0 8.460 False ENSG00000123191 ENSG00000123191 HGNC:870 ATP8B1 gene ATP8B1 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 1 MIM#211600;disorder of bile acid metabolism Abnormality of metabolism/homeostasis;HP:0001939 9500542 False 3 100;0;0 8.460 True ENSG00000081923 ENSG00000081923 HGNC:3706 ATP8B1 gene ATP8B1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal progressive familial intrahepatic cholestasis type 1 MONDO:0008892;Disorders of bile acid metabolism Abnormality of metabolism/homeostasis;HP:0001939 9500542 False 3 0;0;0 8.460 False ENSG00000081923 ENSG00000081923 HGNC:3706 AUH gene AUH Expert Review Green;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "3-methylglutaconic aciduria, type I 250950" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000148090 ENSG00000148090 HGNC:890 AUH gene AUH Expert Review Green;Literature;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria type 1 MONDO:0009610 Abnormality of metabolism/homeostasis;HP:0001939 29152456;12434311;16354225;20855850;21840233 False 3 100;0;0 8.460 True ENSG00000148090 ENSG00000148090 HGNC:890 B3GALNT2 gene B3GALNT2 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, MIM# 615181;MONDO:0014071 Abnormality of metabolism/homeostasis;HP:0001939 23453667;33290285;29791932;29273094;28688748;28303321 False 3 100;0;0 8.460 True ENSG00000162885 ENSG00000162885 HGNC:28596 B3GALT6 gene B3GALT6 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Al-Gazali syndrome, MIM# 609465;Ehlers-Danlos syndrome, spondylodysplastic type, 2, MIM# 615349, MONDO:0014139;Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, MIM# 271640, MONDO:0010075 Abnormality of metabolism/homeostasis;HP:0001939 25149931;29443383;23664117;29931299;23664117;23664118;31614862 False 3 100;0;0 8.460 True ENSG00000176022 ENSG00000176022 HGNC:17978 B3GAT3 gene B3GAT3 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600 Abnormality of metabolism/homeostasis;HP:0001939 26754439;31988067;26086840;25893793;21763480;24668659 False 3 100;0;0 8.460 True ENSG00000149541 ENSG00000149541 HGNC:923 B3GLCT gene B3GLCT Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peters-plus syndrome (MIM# 261540) Abnormality of metabolism/homeostasis;HP:0001939 18199743;16909395 False 3 100;0;0 8.460 True ENSG00000187676 ENSG00000187676 HGNC:20207 B4GALNT1 gene B4GALNT1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 26, autosomal recessive (MIM #609195) Abnormality of metabolism/homeostasis;HP:0001939 23746551;24103911 False 3 100;0;0 8.460 True ENSG00000135454 ENSG00000135454 HGNC:4117 B4GALT1 gene B4GALT1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000086062 ENSG00000086062 HGNC:924 B4GALT7 gene B4GALT7 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070 Abnormality of metabolism/homeostasis;HP:0001939 23956117;24755949;31278392;31614862;31862401 False 3 100;0;0 8.460 True ENSG00000027847 ENSG00000027847 HGNC:930 BAAT gene BAAT Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Bile acid conjugation defect 1, MIM# 619232;Hypercholanemia, familial MIM#607748;disorder of bile acid metabolism Abnormality of metabolism/homeostasis;HP:0001939 12704386;23415802 False 3 100;0;0 8.460 True ENSG00000136881 ENSG00000136881 HGNC:932 BCAT2 gene BCAT2 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hypervalinemia and hyperleucine-isoleucinemia MONDO:0100058 Abnormality of metabolism/homeostasis;HP:0001939 14755340;25653144;31177572 False 3 100;0;0 8.460 True ENSG00000105552 ENSG00000105552 HGNC:977 BCKDHA gene BCKDHA Expert Review Green;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Maple syrup urine disease, type Ia 248600" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHA gene BCKDHA Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal maple syrup urine disease type 1A MONDO:0023691 Abnormality of metabolism/homeostasis;HP:0001939 29152456;34883003;34556729;34288399 False 3 100;0;0 8.460 True ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHB gene BCKDHB Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal maple syrup urine disease type 1B MONDO:0023692 Abnormality of metabolism/homeostasis;HP:0001939 29152456;34883003;34556729;34288399 False 3 100;0;0 8.460 True ENSG00000083123 ENSG00000083123 HGNC:987 BCKDHB gene BCKDHB Expert Review Green;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Maple syrup urine disease, type Ib 248600" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000083123 ENSG00000083123 HGNC:987 BCKDK gene BCKDK Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal branched-chain keto acid dehydrogenase kinase deficiency MONDO:0013970 Abnormality of metabolism/homeostasis;HP:0001939 22956686;24449431 False 3 100;0;0 8.460 True ENSG00000103507 ENSG00000103507 HGNC:16902 BCS1L gene BCS1L Expert Review Green;Expert Review Green;Literature;Royal Melbourne Hospital;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000074582 ENSG00000074582 HGNC:1020 BMP6 gene BMP6 Expert Review Green;NHS Genomic Medicine Service;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Iron overload, susceptibility to} 620121 Abnormality of metabolism/homeostasis;HP:0001939 26582087 False 3 100;0;0 8.460 True ENSG00000153162 ENSG00000153162 HGNC:1073 BOLA3 gene BOLA3 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000163170 ENSG00000163170 HGNC:24415 BSCL2 gene BSCL2 Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal congenital generalized lipodystrophy type 2 MONDO:0010020;diabetes mellitus MONDO:0005015 Abnormality of metabolism/homeostasis;HP:0001939 11479539;26239609 False 3 100;0;0 8.460 True ENSG00000168000 ENSG00000168000 HGNC:15832 BTD gene BTD Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Biotinidase deficiency MIM#253260;disorder of biotin metabolism Abnormality of metabolism/homeostasis;HP:0001939 7550325 False 3 100;0;0 8.460 True ENSG00000169814 ENSG00000169814 HGNC:1122 C12orf65 gene C12orf65 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 55, autosomal recessive, MIM#615035;Combined oxidative phosphorylation deficiency 7, MIM# 613559 Abnormality of metabolism/homeostasis;HP:0001939 23188110;24080142;24198383;20598281;32808965;32478789;28804760 False 3 100;0;0 8.460 True ENSG00000130921 ENSG00000130921 HGNC:26784 C19orf70 gene C19orf70 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Combined oxidative phosphorylation deficiency 37, MIM# 618329" Abnormality of metabolism/homeostasis;HP:0001939 29618761;27623147;27485409 False 3 100;0;0 8.460 True ENSG00000174917 ENSG00000174917 HGNC:33702 C1QBP gene C1QBP Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 33, MIM# 617713 Abnormality of metabolism/homeostasis;HP:0001939 28942965 False 3 100;0;0 8.460 True ENSG00000108561 ENSG00000108561 HGNC:1243 C2orf69 gene C2orf69 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency-53 (COXPD53), MIM#619423 Abnormality of metabolism/homeostasis;HP:0001939 34038740;33945503 False 3 100;0;0 8.460 True ENSG00000178074 ENSG00000178074 HGNC:26799 CA5A gene CA5A Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency MONDO:0014332 Abnormality of metabolism/homeostasis;HP:0001939 24530203;26913920;23589845 False 3 100;0;0 8.460 True ENSG00000174990 ENSG00000174990 HGNC:1377 CA5A gene CA5A Expert Review Green;Genomics England PanelApp;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Hyperammonemia due to carbonic anhydrase VA deficiency 615751" Abnormality of metabolism/homeostasis;HP:0001939 24530203 False 3 100;0;0 8.460 False ENSG00000174990 ENSG00000174990 HGNC:1377 CA5A gene CA5A Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000174990 ENSG00000174990 HGNC:1377 CAD gene CAD Expert Review Green;Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 50, MIM# 616457 Abnormality of metabolism/homeostasis;HP:0001939 25678555;29884839;28007989 False 3 100;0;0 8.460 False ENSG00000084774 ENSG00000084774 HGNC:1424 CARS2 gene CARS2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 27, MIM# 616672;MONDO:0014728 Abnormality of metabolism/homeostasis;HP:0001939 25361775;25787132;30139652 False 3 100;0;0 8.460 True ENSG00000134905 ENSG00000134905 HGNC:25695 CAT gene CAT Victorian Clinical Genetics Services;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000121691 ENSG00000121691 HGNC:1516 CBS gene CBS Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal classic homocystinuria MONDO:0009352 Abnormality of metabolism/homeostasis;HP:0001939 20301697;18987302;29398487 False 3 100;0;0 8.460 True ENSG00000160200 ENSG00000160200 HGNC:1550 CBS gene CBS Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria, B6-responsive and nonresponsive types MIM#236200;disorder of intracellular cobalamin metabolism;metabolic disorder of sulfur metabolism Abnormality of metabolism/homeostasis;HP:0001939 7967489 False 3 100;0;0 8.460 True ENSG00000160200 ENSG00000160200 HGNC:1550 CCDC115 gene CCDC115 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type IIo (MIM# 616828)" Abnormality of metabolism/homeostasis;HP:0001939 26833332 False 3 100;0;0 8.460 True ENSG00000136710 ENSG00000136710 HGNC:28178 CHCHD10 gene CHCHD10 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911;Spinal muscular atrophy, Jokela type 615048;Myopathy, isolated mitochondrial, autosomal dominant 616209 Abnormality of metabolism/homeostasis;HP:0001939 24934289;25428574;25193783;32042922;31690696;30877432;30874923;31261376 False 3 100;0;0 8.460 True Other ENSG00000250479 ENSG00000250479 HGNC:15559 CHCHD2 gene CHCHD2 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinson disease 22, autosomal dominant MIM#616710 Abnormality of metabolism/homeostasis;HP:0001939 32068847;25662902;31600778 False 3 100;0;0 8.460 True ENSG00000106153 ENSG00000106153 HGNC:21645 CHKB gene CHKB Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy, congenital, megaconial type, MIM# 602541;Intellectual disability;Abnormal mitochondria" Abnormality of metabolism/homeostasis;HP:0001939 21665002;23692895;24997086 False 3 100;0;0 8.460 True ENSG00000100288 ENSG00000100288 HGNC:1938 CHST14 gene CHST14 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 1, MIM# 601776 Abnormality of metabolism/homeostasis;HP:0001939 26373698 False 3 100;0;0 8.460 True ENSG00000169105 ENSG00000169105 HGNC:24464 CHST3 gene CHST3 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia with congenital joint dislocations, MIM# 143095 Abnormality of metabolism/homeostasis;HP:0001939 18513679 False 3 100;0;0 8.460 True ENSG00000122863 ENSG00000122863 HGNC:1971 CHST6 gene CHST6 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Macular corneal dystrophy, MIM# 217800, MONDO:0009020 Abnormality of metabolism/homeostasis;HP:0001939 11818380;16207214;26604660 False 3 100;0;0 8.460 True ENSG00000183196 ENSG00000183196 HGNC:6938 CHSY1 gene CHSY1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Temtamy preaxial brachydactyly syndrome, MIM# 605282, MONDO:0011533;CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Abnormality of metabolism/homeostasis;HP:0001939 21129728;21129727;24269551 False 3 100;0;0 8.460 True ENSG00000131873 ENSG00000131873 HGNC:17198 CIAO1 gene CIAO1 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 10, MIM#620960 Abnormality of metabolism/homeostasis;HP:0001939 38411040;38196629 False 3 100;0;0 8.460 True ENSG00000144021 ENSG00000144021 HGNC:14280 CISD2 gene CISD2 Expert Review Green;Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome 2 MIM#604928 Abnormality of metabolism/homeostasis;HP:0001939 29237418;28335035;27459537;26230298;17846994 False 3 100;0;0 8.460 True ENSG00000145354 ENSG00000145354 HGNC:24212 CISD2 gene CISD2 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome, MIM#2604928 Abnormality of metabolism/homeostasis;HP:0001939 10739754;17846994;25056293;25371195;7490992 False 3 100;0;0 8.460 True ENSG00000145354 ENSG00000145354 HGNC:24212 CLCN6 gene CLCN6 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Benign partial epilepsy;febrile seizures;NCL Abnormality of metabolism/homeostasis;HP:0001939 25794116;21107136;33217309 False 3 100;0;0 8.460 True Other ENSG00000011021 ENSG00000011021 HGNC:2024 CLDN10 gene CLDN10 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of magnesium metabolism;HELIX syndrome MONDO:0060564 Abnormality of metabolism/homeostasis;HP:0001939 28686597 False 3 0;0;0 8.460 False ENSG00000134873 ENSG00000134873 HGNC:2033 CLDN16 gene CLDN16 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of magnesium metabolism;renal hypomagnesemia 3 MONDO:0009550 Abnormality of metabolism/homeostasis;HP:0001939 26426912, 16501001, 10878661 False 3 0;0;0 8.460 False ENSG00000113946 ENSG00000113946 HGNC:2037 CLDN19 gene CLDN19 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of magnesium metabolism;renal hypomagnesemia 5 with ocular involvement MONDO:0009548 Abnormality of metabolism/homeostasis;HP:0001939 17033971, 22422540, 27530400 False 3 0;0;0 8.460 False ENSG00000164007 ENSG00000164007 HGNC:2040 CLN3 gene CLN3 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 3, MIM# 204200;MONDO:0008767 Abnormality of metabolism/homeostasis;HP:0001939 7553855 False 3 100;0;0 8.460 True ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 5, MIM# 256731;MONDO:0009745 Abnormality of metabolism/homeostasis;HP:0001939 20157158 False 3 100;0;0 8.460 True ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 6, MIM# 601780;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300 Abnormality of metabolism/homeostasis;HP:0001939 11791207;11727201;21549341 False 3 100;0;0 8.460 True ENSG00000128973 ENSG00000128973 HGNC:2077 CLN8 gene CLN8 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 8, MIM# 600143;Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 Abnormality of metabolism/homeostasis;HP:0001939 10508524;15024724;16570191 False 3 100;0;0 8.460 True ENSG00000182372 ENSG00000182372 HGNC:2079 CLPB gene CLPB Expert Review Green;Literature;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia MONDO:0014561;3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835 Abnormality of metabolism/homeostasis;HP:0001939 29152456;25597510;34140661 False 3 100;0;0 8.460 True ENSG00000162129 ENSG00000162129 HGNC:30664 CLPB gene CLPB Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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 Abnormality of metabolism/homeostasis;HP:0001939 25597510;34140661 False 3 100;0;0 8.460 True ENSG00000162129 ENSG00000162129 HGNC:30664 CLPP gene CLPP Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000125656 ENSG00000125656 HGNC:2084 CNNM2 gene CNNM2 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal renal hypomagnesemia 6 MONDO:0013480;Disorders of magnesium metabolism Abnormality of metabolism/homeostasis;HP:0001939 34604137, 35170241 False 3 0;0;0 8.460 False ENSG00000148842 ENSG00000148842 HGNC:103 COA6 gene COA6 Expert Review Green;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 13, MIM# 616501;Cardioencephalomyopathy, fatal infantile, MONDO:0014668 Abnormality of metabolism/homeostasis;HP:0001939 24549041;25339201;31851937;26160915 False 3 100;0;0 8.460 True ENSG00000168275 ENSG00000168275 HGNC:18025 COA7 gene COA7 Expert Review Green;Expert list;Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387 Abnormality of metabolism/homeostasis;HP:0001939 30885959;29718187 False 3 100;0;0 8.460 True ENSG00000162377 ENSG00000162377 HGNC:25716 COASY gene COASY Expert Review Green;Expert Review Green;Literature;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 6 MIM#615643;Pontocerebellar hypoplasia, type 12 MIM#618266 Abnormality of metabolism/homeostasis;HP:0001939 25778941;24360804;30089828;28489334 False 3 100;0;0 8.460 True ENSG00000068120 ENSG00000068120 HGNC:29932 COASY gene COASY Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal neurodegeneration with brain iron accumulation 6 MONDO:0014290;Disorders of pantothenate and CoA metabolism Abnormality of metabolism/homeostasis;HP:0001939 24360804, 28489334, 27021474 False 3 0;0;0 8.460 False ENSG00000068120 ENSG00000068120 HGNC:29932 COG1 gene COG1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIg, MIM# 611209 Abnormality of metabolism/homeostasis;HP:0001939 16537452;19008299;17904886;11980916 False 3 100;0;0 8.460 True ENSG00000166685 ENSG00000166685 HGNC:6545 COG4 gene COG4 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIj 613489 Abnormality of metabolism/homeostasis;HP:0001939 21185756;19494034 False 3 100;0;0 8.460 True ENSG00000103051 ENSG00000103051 HGNC:18620 COG5 gene COG5 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIi, MIM# 613612 Abnormality of metabolism/homeostasis;HP:0001939 23228021;31572517;32174980 False 3 100;0;0 8.460 True ENSG00000164597 ENSG00000164597 HGNC:14857 COG6 gene COG6 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIl, MIM# 614576 Abnormality of metabolism/homeostasis;HP:0001939 20605848;23430903;26260076;32905044;32683677;31420886 False 3 100;0;0 8.460 True ENSG00000133103 ENSG00000133103 HGNC:18621 COG7 gene COG7 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIe , MIM#608779 Abnormality of metabolism/homeostasis;HP:0001939 15107842;17356545;28883096 False 3 100;0;0 8.460 True ENSG00000168434 ENSG00000168434 HGNC:18622 COG8 gene COG8 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIh, MIM# 611182 Abnormality of metabolism/homeostasis;HP:0001939 17220172;28619360;30690882;17331980 False 3 100;0;0 8.460 True ENSG00000213380 ENSG00000213380 HGNC:18623 COQ2 gene COQ2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1, MIM# 607426;MONDO:0011829 Abnormality of metabolism/homeostasis;HP:0001939 16400613;17332895;17855635 False 3 100;0;0 8.460 True ENSG00000173085 ENSG00000173085 HGNC:25223 COQ2 gene COQ2 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal coenzyme Q10 deficiency, primary, 1 MONDO:0011829 Abnormality of metabolism/homeostasis;HP:0001939 16400613;30337132;26296322 False 3 100;0;0 8.460 True ENSG00000173085 ENSG00000173085 HGNC:25223 COQ4 gene COQ4 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 7, MIM# 616276;Spastic ataxia 10, autosomal recessive, MIM# 620666 Abnormality of metabolism/homeostasis;HP:0001939 25658047;26185144;33704555;36047608;38014483;38013626 False 3 100;0;0 8.460 True ENSG00000167113 ENSG00000167113 HGNC:19693 COQ6 gene COQ6 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000119723 ENSG00000119723 HGNC:20233 COQ7 gene COQ7 Expert Review Green;Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 8 MIM#616733 Abnormality of metabolism/homeostasis;HP:0001939 31240163 False 3 100;0;0 8.460 True ENSG00000167186 ENSG00000167186 HGNC:2244 COQ8A gene COQ8A Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000163050 ENSG00000163050 HGNC:16812 COQ8B gene COQ8B Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000123815 ENSG00000123815 HGNC:19041 COQ9 gene COQ9 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000088682 ENSG00000088682 HGNC:25302 COX10 gene COX10 Expert Review Green;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 3, MIM# 619046 Abnormality of metabolism/homeostasis;HP:0001939 10767350;12928484;15455402;27290639 False 3 100;0;0 8.460 True ENSG00000006695 ENSG00000006695 HGNC:2260 COX11 gene COX11 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease (MONDO:0044970), COX11-related Abnormality of metabolism/homeostasis;HP:0001939 36030551 False 3 100;0;0 8.460 True ENSG00000166260 ENSG00000166260 HGNC:2261 COX15 gene COX15 Expert Review Green;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 6, MIM# 615119 Abnormality of metabolism/homeostasis;HP:0001939 33746038;32232962;26959537;21412973;12474143;15235026 False 3 100;0;0 8.460 True ENSG00000014919 ENSG00000014919 HGNC:2263 COX20 gene COX20 Expert Review Green;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 11, MIM#619054 Abnormality of metabolism/homeostasis;HP:0001939 24202787;31079202;30656193;23125284;32606554 False 3 100;0;0 8.460 True ENSG00000203667 ENSG00000203667 HGNC:26970 COX6A1 gene COX6A1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Charcot Marie Tooth disease, recessive intermediate D, MIM# 616039;MONDO:0014467 Abnormality of metabolism/homeostasis;HP:0001939 25152455;26302975;25152455 False 3 100;0;0 8.460 True ENSG00000111775 ENSG00000111775 HGNC:2277 COX6A2 gene COX6A2 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 18, MIM#619062 Abnormality of metabolism/homeostasis;HP:0001939 31155743;23460811 False 3 100;0;0 8.460 True ENSG00000156885 ENSG00000156885 HGNC:2279 COX6B1 gene COX6B1 Expert Review Green;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 7, MIM# 619051 Abnormality of metabolism/homeostasis;HP:0001939 18499082;24781756 False 3 100;0;0 8.460 True ENSG00000126267 ENSG00000126267 HGNC:2280 COX7B gene COX7B Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000131174 ENSG00000131174 HGNC:2291 CP gene CP NHS Genomic Medicine Service;Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 604290 ACERULOPLASMINEMIA;604290 Hemosiderosis, systemic, due to aceruloplasminemia Abnormality of metabolism/homeostasis;HP:0001939 15338274 False 3 0;0;0 8.460 False ENSG00000047457 ENSG00000047457 HGNC:2295 CPOX gene CPOX Expert Review Green;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Coproporphyria 121300;Hereditary coproporphyria (Acute neuropathic porphyrias);Harderoporphyria 121300 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000080819 ENSG00000080819 HGNC:2321 CPS1 gene CPS1 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal carbamoyl phosphate synthetase I deficiency disease MONDO:0009376 Abnormality of metabolism/homeostasis;HP:0001939 9862865;29801986;27834067;27150549;22173106 False 3 100;0;0 8.460 True ENSG00000021826 ENSG00000021826 HGNC:2323 CPS1 gene CPS1 Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Carbamoylphosphate synthetase I deficiency 237300" Abnormality of metabolism/homeostasis;HP:0001939 False 3 50;0;50 8.460 False ENSG00000021826 ENSG00000021826 HGNC:2323 CPT1A gene CPT1A Expert Review Green;Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "CPT deficiency, hepatic, type IA 255120" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000110090 ENSG00000110090 HGNC:2328 CPT1A gene CPT1A Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal CPT deficiency, hepatic, type IA, MIM# 255120 Abnormality of metabolism/homeostasis;HP:0001939 12189492 False 3 100;0;0 8.460 True ENSG00000110090 ENSG00000110090 HGNC:2328 CPT1A gene CPT1A Expert Review Green;Expert Review Green;Literature;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal CPT deficiency, hepatic, type IA MIM#255120 Abnormality of metabolism/homeostasis;HP:0001939 25778941;12189492;23430932 False 3 100;0;0 8.460 True ENSG00000110090 ENSG00000110090 HGNC:2328 CPT2 gene CPT2 Expert Review Green;Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "CPT II deficiency, infantile MIM#600649;CPT II deficiency, lethal neonatal MIM#608836;CPT II deficiency, myopathic, stress-induced MIM#255110" Abnormality of metabolism/homeostasis;HP:0001939 25778941;12673791;30957255 False 3 100;0;0 8.460 True ENSG00000157184 ENSG00000157184 HGNC:2330 CPT2 gene CPT2 Expert Review Green;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal CPT deficiency, hepatic, type II 600649;CPT II deficiency, lethal neonatal 608836 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000157184 ENSG00000157184 HGNC:2330 CPT2 gene CPT2 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal CPT II deficiency, infantile 600649;CPT II deficiency, lethal neonatal 608836;CPT II deficiency, myopathic, stress-induced 255110 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000157184 ENSG00000157184 HGNC:2330 CRLS1 gene CRLS1 Expert Review Green;Literature;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 57, MIM# 620167 Abnormality of metabolism/homeostasis;HP:0001939 35147173 False 3 100;0;0 8.460 True ENSG00000088766 ENSG00000088766 HGNC:16148 CSGALNACT1 gene CSGALNACT1 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation;Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870 Abnormality of metabolism/homeostasis;HP:0001939 31705726;31325655 False 3 100;0;0 8.460 True ENSG00000147408 ENSG00000147408 HGNC:24290 CTH gene CTH Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal cystathioninuria MONDO:0009058 Abnormality of metabolism/homeostasis;HP:0001939 20584029;19428278;12574942 False 3 100;0;0 8.460 True ENSG00000116761 ENSG00000116761 HGNC:2501 CTNS gene CTNS Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Cystinosis, late-onset juvenile or adolescent nephropathic 219900;Cystinosis, nephropathic 219800;Cystinosis, ocular nonnephropathic 219750" Abnormality of metabolism/homeostasis;HP:0001939 PMID: 32564281 False 3 100;0;0 8.460 True ENSG00000040531 ENSG00000040531 HGNC:2518 CTSA gene CTSA Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Galactosialidosis, MIM# 256540 Abnormality of metabolism/homeostasis;HP:0001939 8514852;8968752 False 3 100;0;0 8.460 True ENSG00000064601 ENSG00000064601 HGNC:9251 CTSC gene CTSC Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Haim-Munk syndrome MIM#245010;Papillon-Lefevre syndrome MIM#245000;other lysosomal disorder Abnormality of metabolism/homeostasis;HP:0001939 10581027 False 3 100;0;0 8.460 True ENSG00000109861 ENSG00000109861 HGNC:2528 CTSC gene CTSC Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal ectodermal dysplasia syndrome MONDO:0019287;Other disorders of complex molecule degradation Abnormality of metabolism/homeostasis;HP:0001939 31282082;29884839 False 3 0;0;0 8.460 False ENSG00000109861 ENSG00000109861 HGNC:2528 CTSD gene CTSD Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 10, MIM# 610127;MONDO:0012414 Abnormality of metabolism/homeostasis;HP:0001939 16685649;16670177;25298308;33681191;29284168;27072142 False 3 100;0;0 8.460 True ENSG00000117984 ENSG00000117984 HGNC:2529 CTSF gene CTSF Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 13, Kufs type, MIM# 615362 Abnormality of metabolism/homeostasis;HP:0001939 28749476;27668283;27524508 False 3 100;0;0 8.460 True ENSG00000174080 ENSG00000174080 HGNC:2531 CTSK gene CTSK Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Pycnodysostosis 265800" Abnormality of metabolism/homeostasis;HP:0001939 PMID: 32667742;25725806;25304337 False 3 50;50;0 8.460 True ENSG00000143387 ENSG00000143387 HGNC:2536 CUBN gene CUBN Expert Review Green;Literature;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Proteinuria, chronic benign MIM#618884;Imerslund-Grasbeck syndrome 1 MIM#261100;Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism) Abnormality of metabolism/homeostasis;HP:0001939 10080186;31613795 False 3 100;0;0 8.460 True ENSG00000107611 ENSG00000107611 HGNC:2548 CYB5R3 gene CYB5R3 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of haem degradation and bilirubin metabolism;methemoglobinemia due to deficiency of methemoglobin reductase MONDO:0009606 Abnormality of metabolism/homeostasis;HP:0001939 2107882, 1707593, 12393396 False 3 0;0;0 8.460 False ENSG00000100243 ENSG00000100243 HGNC:2873 CYC1 gene CYC1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000179091 ENSG00000179091 HGNC:2579 CYCS gene CYCS Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopenia 4, MIM#612004 Abnormality of metabolism/homeostasis;HP:0001939 18345000;24326104;30051457 False 3 100;0;0 8.460 True ENSG00000172115 ENSG00000172115 HGNC:19986 CYP24A1 gene CYP24A1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Other disorders of vitamin metabolism;hypercalcemia, infantile, 1 MONDO:0020739 Abnormality of metabolism/homeostasis;HP:0001939 21675912, 22047572, 33516786, 33186763, 32866123, 32743688 False 3 0;0;0 8.460 False ENSG00000019186 ENSG00000019186 HGNC:2602 CYP27A1 gene CYP27A1 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Cerebrotendinous xanthomatosis MIM#213700;Disorders of bile acid biosynthesis" Abnormality of metabolism/homeostasis;HP:0001939 2019602 False 3 100;0;0 8.460 True ENSG00000135929 ENSG00000135929 HGNC:2605 CYP27A1 gene CYP27A1 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis MIM#213700 Abnormality of metabolism/homeostasis;HP:0001939 30720493;2019602;20301583 False 3 100;0;0 8.460 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP27B1 gene CYP27B1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal vitamin D-dependent rickets, type 1A MONDO:0020723;Other disorders of vitamin metabolism Abnormality of metabolism/homeostasis;HP:0001939 9486994, 9415400, 12050193, 27473561, 34492747, 33823104 False 3 0;0;0 8.460 False ENSG00000111012 ENSG00000111012 HGNC:2606 CYP2R1 gene CYP2R1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal vitamin D hydroxylation-deficient rickets, type 1B MONDO:0010810;Other disorders of vitamin metabolism Abnormality of metabolism/homeostasis;HP:0001939 15128933, 28548312 False 3 0;0;0 8.460 False ENSG00000186104 ENSG00000186104 HGNC:20580 CYP7B1 gene CYP7B1 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 3 MIM#613812;Spastic paraplegia 5A, autosomal recessive MIM#270800;Disorders of bile acid biosynthesis Abnormality of metabolism/homeostasis;HP:0001939 9802883;18252231;31337596 False 3 100;0;0 8.460 True ENSG00000172817 ENSG00000172817 HGNC:2652 D2HGDH gene D2HGDH Expert Review Green;Expert Review Green;NHS GMS;Literature;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal D-2-hydroxyglutaric aciduria MIM#600721 Abnormality of metabolism/homeostasis;HP:0001939 25778941;31349060;15609246;20020533 False 3 100;0;0 8.460 True ENSG00000180902 ENSG00000180902 HGNC:28358 DAP3 gene DAP3 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease MONDO:0044970, DAP3-related Abnormality of metabolism/homeostasis;HP:0001939 39701103 False 3 100;0;0 8.460 True ENSG00000132676 ENSG00000132676 HGNC:2673 DARS2 gene DARS2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000117593 ENSG00000117593 HGNC:25538 DBH gene DBH Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Dopamine beta-hydroxylase deficiency, MIM#223360 Abnormality of metabolism/homeostasis;HP:0001939 11857564 False 3 100;0;0 8.460 True ENSG00000123454 ENSG00000123454 HGNC:2689 DBT gene DBT Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Maple syrup urine disease, type II 248600" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000137992 ENSG00000137992 HGNC:2698 DBT gene DBT Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal maple syrup urine disease MONDO:0009563 Abnormality of metabolism/homeostasis;HP:0001939 29152456;20570198 False 3 100;0;0 8.460 True ENSG00000137992 ENSG00000137992 HGNC:2698 DCAF17 gene DCAF17 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Woodhouse-Sakati syndrome MONDO:0009419 Abnormality of metabolism/homeostasis;HP:0001939 24464444;19026396;20507343;35002959;34732557;34590781 False 3 100;0;0 8.460 True ENSG00000115827 ENSG00000115827 HGNC:25784 DDC gene DDC Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency, MIM# 608643 Abnormality of metabolism/homeostasis;HP:0001939 20505134 False 3 100;0;0 8.460 True ENSG00000132437 ENSG00000132437 HGNC:2719 DGUOK gene DGUOK Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000114956 ENSG00000114956 HGNC:2858 DHCR24 gene DHCR24 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Desmosterolosis MIM#602398;Disorders of the metabolism of sterols Abnormality of metabolism/homeostasis;HP:0001939 11519011;21559050;21671375 False 3 100;0;0 8.460 True ENSG00000116133 ENSG00000116133 HGNC:2859 DHCR7 gene DHCR7 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome MIM#270400;Disorders of sterol biosynthesis Abnormality of metabolism/homeostasis;HP:0001939 7560069;9634533 False 3 100;0;0 8.460 True ENSG00000172893 ENSG00000172893 HGNC:2860 DHDDS gene DHDDS Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 1bb, MIM# 613861 Abnormality of metabolism/homeostasis;HP:0001939 27343064;21295283;28130426;29276052;32483926;36046393;24078709;28005406;36046393 False 3 100;0;0 8.460 True ENSG00000117682 ENSG00000117682 HGNC:20603 DHFR gene DHFR Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Megaloblastic anemia due to dihydrofolate reductase deficiency, MIM# 613839" Abnormality of metabolism/homeostasis;HP:0001939 21310276;21310277 False 3 100;0;0 8.460 True ENSG00000228716 ENSG00000228716 HGNC:2861 DHODH gene DHODH Expert Review Green;Expert Review Green;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Miller syndrome MIM#263750;Disorders of pyrimidine metabolism Abnormality of metabolism/homeostasis;HP:0001939 19915526 False 3 100;0;0 8.460 False ENSG00000102967 ENSG00000102967 HGNC:2867 DHODH gene DHODH Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Miller syndrome MIM#263750;Disorders of pyrimidine metabolism Abnormality of metabolism/homeostasis;HP:0001939 19915526 False 3 100;0;0 8.460 True ENSG00000102967 ENSG00000102967 HGNC:2867 DHRSX gene DHRSX Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type 1DD, MIM# 301133" Abnormality of metabolism/homeostasis;HP:0001939 38821050 False 3 100;0;0 8.460 True ENSG00000169084 ENSG00000169084 HGNC:18399 DHTKD1 gene DHTKD1 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 2-aminoadipic 2-oxoadipic aciduria MONDO:0008774 Abnormality of metabolism/homeostasis;HP:0001939 26141459;25860818;23141293 False 3 100;0;0 8.460 True ENSG00000181192 ENSG00000181192 HGNC:23537 DHTKD1 gene DHTKD1 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 2-aminoadipic 2-oxoadipic aciduria MIM#204750;Disorders of histidine, tryptophan or lysine metabolism Abnormality of metabolism/homeostasis;HP:0001939 27604308;23141293;29661920;25860818 False 3 100;0;0 8.460 True ENSG00000181192 ENSG00000181192 HGNC:23537 DLAT gene DLAT Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000150768 ENSG00000150768 HGNC:2896 DLD gene DLD Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000091140 ENSG00000091140 HGNC:2898 DLD gene DLD Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal pyruvate dehydrogenase E3 deficiency MONDO:0009529 Abnormality of metabolism/homeostasis;HP:0001939 3769994;8506365;9934985;17404228;21558426;21930696 False 3 100;0;0 8.460 True ENSG00000091140 ENSG00000091140 HGNC:2898 DNA2 gene DNA2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000138346 ENSG00000138346 HGNC:2939 DNAJC12 gene DNAJC12 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hyperphenylalaninemia due to DNAJC12 deficiency MONDO:0044304 Abnormality of metabolism/homeostasis;HP:0001939 28132689;30179615;28892570;28794131;30139987 False 3 100;0;0 8.460 True ENSG00000108176 ENSG00000108176 HGNC:28908 DNAJC12 gene DNAJC12 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Hyperphenylalaninemia, mild, non-BH4-deficient, MIM# 617384" Abnormality of metabolism/homeostasis;HP:0001939 28132689;30139987;28892570 False 3 100;0;0 8.460 True ENSG00000108176 ENSG00000108176 HGNC:28908 DNAJC19 gene DNAJC19 Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000205981 ENSG00000205981 HGNC:30528 DNAJC19 gene DNAJC19 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria type 5 MONDO:0012435 Abnormality of metabolism/homeostasis;HP:0001939 29152456;16055927;17244376;22797137 False 3 100;0;0 8.460 True ENSG00000205981 ENSG00000205981 HGNC:30528 DNAJC3 gene DNAJC3 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome MONDO:0014523 Abnormality of metabolism/homeostasis;HP:0001939 33486469;34630333;34654017;32738013;29767246 False 3 100;0;0 8.460 True ENSG00000102580 ENSG00000102580 HGNC:9439 DNAJC30 gene DNAJC30 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Leber Hereditary Optic Neuropathy, MIM#619382 Abnormality of metabolism/homeostasis;HP:0001939 PMID: 33465056 False 3 100;0;0 8.460 True ENSG00000176410 ENSG00000176410 HGNC:16410 DNAJC5 gene DNAJC5 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ceroid lipofuscinosis, neuronal, 4, Parry type, MIM# 162350;MONDO:0008083 Abnormality of metabolism/homeostasis;HP:0001939 21820099;22073189;22235333;22978711 False 3 100;0;0 8.460 True ENSG00000101152 ENSG00000101152 HGNC:16235 DNM1L gene DNM1L Victorian Clinical Genetics Services;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000087470 ENSG00000087470 HGNC:2973 DNM1L gene DNM1L Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000087470 ENSG00000087470 HGNC:2973 DNM2 gene DNM2 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "Centronuclear myopathy 1 160150 AD 3 Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482;Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482;Lethal congenital contracture syndrome 5, MIM# 615368" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000079805 ENSG00000079805 HGNC:2974 DOLK gene DOLK Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal DK1-CDG, MONDO:0012556;Congenital disorder of glycosylation, type Im, MIM# 610768 Abnormality of metabolism/homeostasis;HP:0001939 17273964;22242004;23890587;30653653;28816422;24144945 False 3 100;0;0 8.460 True ENSG00000175283 ENSG00000175283 HGNC:23406 DPAGT1 gene DPAGT1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ij, MIM# 608093;DPAGT1-CDG MONDO:0011964 Abnormality of metabolism/homeostasis;HP:0001939 12872255;22492991;22304930;31153949;30653653;30117111 False 3 100;0;0 8.460 True ENSG00000172269 ENSG00000172269 HGNC:2995 DPM1 gene DPM1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ie, MIM# 608799 Abnormality of metabolism/homeostasis;HP:0001939 23856421;16641202;10642602;10642597 False 3 100;0;0 8.460 True ENSG00000000419 ENSG00000000419 HGNC:3005 DPM2 gene DPM2 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu, MIM#615042 Abnormality of metabolism/homeostasis;HP:0001939 23109149;33129689 False 3 100;0;0 8.460 True ENSG00000136908 ENSG00000136908 HGNC:3006 DPM3 gene DPM3 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 , MIM#612937;Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 618992 Abnormality of metabolism/homeostasis;HP:0001939 31266720;28803818;19576565;31266720;31469168 False 3 100;0;0 8.460 True ENSG00000179085 ENSG00000179085 HGNC:3007 DPYD gene DPYD Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidine dehydrogenase deficiency MIM#274270;5-fluorouracil toxicity MIM#274270;Disorders of pyrimidine metabolism Abnormality of metabolism/homeostasis;HP:0001939 8051923 False 3 100;0;0 8.460 True ENSG00000188641 ENSG00000188641 HGNC:3012 DPYD gene DPYD Expert Review Green;Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidine dehydrogenase deficiency MONDO:0010130;Disorders of pyrimidine metabolism Abnormality of metabolism/homeostasis;HP:0001939 8051923;29152729 False 3 100;0;0 8.460 False ENSG00000188641 ENSG00000188641 HGNC:3012 DPYS gene DPYS Expert Review Green;Expert Review Green;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidinuria MONDO:0009111;Disorders of pyrimidine metabolism Abnormality of metabolism/homeostasis;HP:0001939 9718352;29054612;30384990 False 3 100;0;0 8.460 False ENSG00000147647 ENSG00000147647 HGNC:3013 DPYS gene DPYS Expert Review Green;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidinuria MIM#222748;Disorders of pyrimidine metabolism Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000147647 ENSG00000147647 HGNC:3013 EARS2 gene EARS2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome MONDO:0009723;Combined oxidative phosphorylation deficiency 12 MIM#614924;leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome MONDO:0013971 Abnormality of metabolism/homeostasis;HP:0001939 22492562;23008233;25854774;26619324;26893310;27206875;27571996;27117034 False 3 100;0;0 8.460 True ENSG00000103356 ENSG00000103356 HGNC:29419 ECHS1 gene ECHS1 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277" Abnormality of metabolism/homeostasis;HP:0001939 31399326;25125611;25393721 False 3 100;0;0 8.460 True ENSG00000127884 ENSG00000127884 HGNC:3151 ECHS1 gene ECHS1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome MONDO:0009723 Abnormality of metabolism/homeostasis;HP:0001939 26000322;25393721;25125611;28409271;29575569;28755360;26099313 False 3 100;0;0 8.460 True ENSG00000127884 ENSG00000127884 HGNC:3151 EDEM3 gene EDEM3 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 2V, MIM# 619493 Abnormality of metabolism/homeostasis;HP:0001939 34143952 False 3 100;0;0 8.460 True ENSG00000116406 ENSG00000116406 HGNC:16787 EIF2AK3 gene EIF2AK3 Expert Review Green;UKGTN Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Wolcott-Rallison syndrome MONDO:0009192;neonatal diabetes mellitus MONDO:0016391 Abnormality of metabolism/homeostasis;HP:0001939 20202148;11997520;16813601;10932183;37873802;36106422 False 3 100;0;0 8.460 True ENSG00000172071 ENSG00000172071 HGNC:3255 EIF2B1 gene EIF2B1 Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neonatal diabetes mellitus, MONDO:0016391, EIF2B1-related Abnormality of metabolism/homeostasis;HP:0001939 31882561 False 3 100;0;0 8.460 True ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2S3 gene EIF2S3 NHS GMS;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females microcephaly;MEHMO syndrome (X-linked NDM and microcephaly),300148;diabetes;epilepsy;hypogonadism;intellectual disability;hypogenitalism;central obesity Abnormality of metabolism/homeostasis;HP:0001939 28055140 False 3 100;0;0 8.460 False ENSG00000130741 ENSG00000130741 HGNC:3267 ELAC2 gene ELAC2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 17, MIM#615440 Abnormality of metabolism/homeostasis;HP:0001939 23849775;31045291 False 3 100;0;0 8.460 True ENSG00000006744 ENSG00000006744 HGNC:14198 ENO3 gene ENO3 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XIII, MIM#612932 Abnormality of metabolism/homeostasis;HP:0001939 31741825;11506403;18070103;25267339 False 3 100;0;0 8.460 True ENSG00000108515 ENSG00000108515 HGNC:3354 ENPP1 gene ENPP1 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cole disease, MIM# 615522;Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312;Arterial calcification, generalized, of infancy, 1, MIM# 208000 Abnormality of metabolism/homeostasis;HP:0001939 20016754;12881724 False 3 100;0;0 8.460 False ENSG00000197594 ENSG00000197594 HGNC:3356 EOGT gene EOGT Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Adams-Oliver syndrome 4 (MIM #615297);scalp aplasia cutis congenita;transverse terminal limb defects Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000163378 ENSG00000163378 HGNC:28526 EPG5 gene EPG5 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of autophagy;Vici syndrome MONDO:0009452 Abnormality of metabolism/homeostasis;HP:0001939 33674710;34130600;29884839 False 3 0;0;0 8.460 False ENSG00000152223 ENSG00000152223 HGNC:29331 EPG5 gene EPG5 Expert Review Green;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Vici syndrome MIM#242840;Congenital disorders of autophagy Abnormality of metabolism/homeostasis;HP:0001939 23222957;26715604 False 3 100;0;0 8.460 True ENSG00000152223 ENSG00000152223 HGNC:29331 EPM2A gene EPM2A Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2A (Lafora), MIM# 254780 Abnormality of metabolism/homeostasis;HP:0001939 9771710 False 3 100;0;0 8.460 True ENSG00000112425 ENSG00000112425 HGNC:3413 ETFA gene ETFA Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA MIM#231680;Multiple acyl-CoA dehydrogenase deficiency (MADD) Abnormality of metabolism/homeostasis;HP:0001939 1882842;12815589 False 3 100;0;0 8.460 True ENSG00000140374 ENSG00000140374 HGNC:3481 ETFA gene ETFA Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA, MIM# 231680 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000140374 ENSG00000140374 HGNC:3481 ETFA gene ETFA Expert Review Green;Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Glutaric acidemia IIA 231680" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000140374 ENSG00000140374 HGNC:3481 ETFA gene ETFA Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal multiple acyl-CoA dehydrogenase deficiency MONDO:0009282;Disorders of mitochondrial fatty acid oxidation Abnormality of metabolism/homeostasis;HP:0001939 1430199, 1882842, 21347544 False 3 0;0;0 8.460 False ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Glutaric acidemia IIB 231680" Abnormality of metabolism/homeostasis;HP:0001939 27081516 False 3 100;0;0 8.460 False ENSG00000105379 ENSG00000105379 HGNC:3482 ETFB gene ETFB Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal multiple acyl-CoA dehydrogenase deficiency MONDO:0009282;Disorders of mitochondrial fatty acid oxidation Abnormality of metabolism/homeostasis;HP:0001939 7912128, 12815589, 27081516, 12706375, 30626930 False 3 0;0;0 8.460 False ENSG00000105379 ENSG00000105379 HGNC:3482 ETFB gene ETFB Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB, MIM# 231680 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000105379 ENSG00000105379 HGNC:3482 ETFB gene ETFB Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB MIM#231680;Multiple acyl-CoA dehydrogenase deficiency (MADD) Abnormality of metabolism/homeostasis;HP:0001939 12815589;7912128 False 3 100;0;0 8.460 True ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIC, MIM# 231680 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000171503 ENSG00000171503 HGNC:3483 ETFDH gene ETFDH Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIC MIM#231680;Multiple acyl-CoA dehydrogenase deficiency (MADD) Abnormality of metabolism/homeostasis;HP:0001939 19249206;17412732 False 3 100;0;0 8.460 True ENSG00000171503 ENSG00000171503 HGNC:3483 ETFDH gene ETFDH Expert Review Green;Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Glutaric acidemia IIC 231680" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000171503 ENSG00000171503 HGNC:3483 ETFDH gene ETFDH Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal multiple acyl-CoA dehydrogenase deficiency MONDO:0009282;Disorders of mitochondrial fatty acid oxidation Abnormality of metabolism/homeostasis;HP:0001939 17412732, 27038534, 19249206, 15710863, 32804429 False 3 0;0;0 8.460 False ENSG00000171503 ENSG00000171503 HGNC:3483 ETHE1 gene ETHE1 Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Ethylmalonic encephalopathy, MIM# 602473" Abnormality of metabolism/homeostasis;HP:0001939 18593870 False 3 100;0;0 8.460 True ENSG00000105755 ENSG00000105755 HGNC:23287 ETHE1 gene ETHE1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000105755 ENSG00000105755 HGNC:23287 EXT1 gene EXT1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exostoses, multiple, type 1 133700;Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) Abnormality of metabolism/homeostasis;HP:0001939 7550340;9521425 False 3 100;0;0 8.460 True ENSG00000182197 ENSG00000182197 HGNC:3512 EXT2 gene EXT2 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Seizures, scoliosis, and macrocephaly syndrome 616682;Exostoses, multiple, type 2 133701;Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) Abnormality of metabolism/homeostasis;HP:0001939 30288735;30075207;26246518 False 3 100;0;0 8.460 True ENSG00000151348 ENSG00000151348 HGNC:3513 EXTL3 gene EXTL3 Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Immunoskeletal dysplasia with neurodevelopmental abnormalities, MIM# 617425 Abnormality of metabolism/homeostasis;HP:0001939 28132690;28148688;28331220 False 3 100;0;0 8.460 True ENSG00000012232 ENSG00000012232 HGNC:3518 FAH gene FAH Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal tyrosinemia type I MONDO:0010161 Abnormality of metabolism/homeostasis;HP:0001939 20301688;8318997;7550234;7942842;2378356;9095403;26829318 False 3 100;0;0 8.460 True ENSG00000103876 ENSG00000103876 HGNC:3579 FAR1 gene FAR1 Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisomal fatty acyl-CoA reductase 1 disorder (MIM#616154);Cataracts, spastic paraparesis, and speech delay, MIM#619338 Abnormality of metabolism/homeostasis;HP:0001939 25439727;33239752 False 3 50;50;0 8.460 True ENSG00000197601 ENSG00000197601 HGNC:26222 FARS2 gene FARS2 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal combined oxidative phosphorylation defect type 14 MONDO:0013986;hereditary spastic paraplegia 77 MONDO:0014882 Abnormality of metabolism/homeostasis;HP:0001939 30250868;30177229;29126765;28043061 False 3 100;0;0 8.460 True ENSG00000145982 ENSG00000145982 HGNC:21062 FASTKD2 gene FASTKD2 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 44, MIM# 618855;FASTKD2-related infantile mitochondrial encephalomyopathy MONDO:0015632 Abnormality of metabolism/homeostasis;HP:0001939 18771761;28499982;31944455;34234304 False 3 100;0;0 8.460 True ENSG00000118246 ENSG00000118246 HGNC:29160 FBP1 gene FBP1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Fructose-1,6-bisphosphatase deficiency, MIM# 229700 Abnormality of metabolism/homeostasis;HP:0001939 9382095 False 3 100;0;0 8.460 True ENSG00000165140 ENSG00000165140 HGNC:3606 FBXL4 gene FBXL4 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) MIM#615471 Abnormality of metabolism/homeostasis;HP:0001939 28940506 False 3 100;0;0 8.460 True ENSG00000112234 ENSG00000112234 HGNC:13601 FDFT1 gene FDFT1 Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal squalene synthase deficiency MONDO:0032566 Abnormality of metabolism/homeostasis;HP:0001939 29909962 False 3 100;0;0 8.460 True ENSG00000079459 ENSG00000079459 HGNC:3629 FDX2 gene FDX2 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, MIM# 251900;inborn mitochondrial myopathy MONDO:0009637 Abnormality of metabolism/homeostasis;HP:0001939 24281368;28803783;30010796;35079622;34905296 False 3 100;0;0 8.460 True ENSG00000267673 ENSG00000267673 HGNC:30546 FDXR gene FDXR Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Auditory neuropathy and optic atrophy, MIM#617717;Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887 Abnormality of metabolism/homeostasis;HP:0001939 30250212;28965846;29040572;33348459;37046037;37481223 False 3 100;0;0 8.460 True ENSG00000161513 ENSG00000161513 HGNC:3642 FECH gene FECH Expert Review Green;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Protoporphyria, erythropoietic, autosomal recessive, 177000 Abnormality of metabolism/homeostasis;HP:0001939 20105171;23016163 False 3 100;0;0 8.460 True ENSG00000066926 ENSG00000066926 HGNC:3647 FH gene FH Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000091483 ENSG00000091483 HGNC:3700 FKRP gene FKRP Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153;Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800;Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000106692 ENSG00000106692 HGNC:3622 FLAD1 gene FLAD1 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM# 255100" Abnormality of metabolism/homeostasis;HP:0001939 25058219;27259049;16643857;20060505;30061063;30982706;30311138;31392824;30427553 False 3 0;100;0 8.460 True ENSG00000160688 ENSG00000160688 HGNC:24671 FLAD1 gene FLAD1 Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000160688 ENSG00000160688 HGNC:24671 FLAD1 gene FLAD1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal myopathy with abnormal lipid metabolism MONDO:0009703;Disorders of riboflavin metabolism Abnormality of metabolism/homeostasis;HP:0001939 34454814,34718578, 31392824, 30982706, 30311138, 30427553, 28433476, 27259049, 25058219 False 3 0;0;0 8.460 False ENSG00000160688 ENSG00000160688 HGNC:24671 FMO3 gene FMO3 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal trimethylaminuria MONDO:0011182 Abnormality of metabolism/homeostasis;HP:0001939 31317802;28649550 False 3 100;0;0 8.460 True ENSG00000007933 ENSG00000007933 HGNC:3771 FMO3 gene FMO3 Expert Review Green;NHS GMS;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Trimethylaminuria MIM#602079;Disorders and variants of other enzymes that oxidise xenobiotics Abnormality of metabolism/homeostasis;HP:0001939 27604308;9536088 False 3 100;0;0 8.460 True ENSG00000007933 ENSG00000007933 HGNC:3771 FOLR1 gene FOLR1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0013110;Disorders of folate metabolism Abnormality of metabolism/homeostasis;HP:0001939 27743887;30420205;19732866 False 3 0;0;0 8.460 False ENSG00000110195 ENSG00000110195 HGNC:3791 FOLR1 gene FOLR1 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068" Abnormality of metabolism/homeostasis;HP:0001939 19732866;30420205;27743887 False 3 100;0;0 8.460 True ENSG00000110195 ENSG00000110195 HGNC:3791 FOXP3 gene FOXP3 Expert Review Green;UKGTN Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0010580 Abnormality of metabolism/homeostasis;HP:0001939 11137992;32234571;11137993;33614561 False 3 100;0;0 8.460 True ENSG00000049768 ENSG00000049768 HGNC:6106 FOXRED1 gene FOXRED1 Expert Review Green;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 19 MIM#618241 Abnormality of metabolism/homeostasis;HP:0001939 33613441 False 3 100;0;0 8.460 True ENSG00000110074 ENSG00000110074 HGNC:26927 FTCD gene FTCD Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glutamate formiminotransferase deficiency MIM#229100;Disorders of histidine, tryptophan or lysine metabolism Abnormality of metabolism/homeostasis;HP:0001939 http://iembase.com/disorder/47 False 3 100;0;0 8.460 True ENSG00000160282 ENSG00000160282 HGNC:3974 FTL gene FTL Expert Review Green;NHS Genomic Medicine Service;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 606159 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3;LFTD;NBIA3;615604 L-FERRITIN DEFICIENCY;HRFTC;606159 Neurodegeneration with brain iron accumulation 3;600886 HYPERFERRITINEMIA WITH OR WITHOUT CATARACT;600886 Hyperferritinemia-cataract syndrome;615604 L-ferritin deficiency, dominant and recessive Abnormality of metabolism/homeostasis;HP:0001939 23940258;18413574;23421845;19176363 False 3 100;0;0 8.460 True ENSG00000087086 ENSG00000087086 HGNC:3999 FUCA1 gene FUCA1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Fucosidosis, MIM# 230000;MONDO:0009254 Abnormality of metabolism/homeostasis;HP:0001939 10094192 False 3 100;0;0 8.460 True ENSG00000179163 ENSG00000179163 HGNC:4006 FUK gene FUK Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation with defective fucosylation 2, MIM# 618324" Abnormality of metabolism/homeostasis;HP:0001939 30503518;35718084;36426412 False 3 100;0;0 8.460 True ENSG00000157353 ENSG00000157353 HGNC:29500 FUT8 gene FUT8 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation with defective fucosylation, 618005 Abnormality of metabolism/homeostasis;HP:0001939 29304374 False 3 100;0;0 8.460 True ENSG00000033170 ENSG00000033170 HGNC:4019 FXN gene FXN Expert Review Green;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, MIM# 229300 Abnormality of metabolism/homeostasis;HP:0001939 10500103;11351132 False 3 100;0;0 8.460 True ENSG00000165060 ENSG00000165060 HGNC:3951 G6PC gene G6PC Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ia, MIM# 232200 Abnormality of metabolism/homeostasis;HP:0001939 8733042 False 3 100;0;0 8.460 True ENSG00000131482 ENSG00000131482 HGNC:4056 G6PC3 gene G6PC3 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Dursun syndrome 612541;Neutropenia, severe congenital 4, autosomal recessive 612541 Abnormality of metabolism/homeostasis;HP:0001939 21385794 False 3 0;100;0 8.460 True ENSG00000141349 ENSG00000141349 HGNC:24861 GAA gene GAA Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease II, MIM# 232300;MONDO:0009290 Abnormality of metabolism/homeostasis;HP:0001939 16917947 False 3 100;0;0 8.460 True ENSG00000171298 ENSG00000171298 HGNC:4065 GAA gene GAA Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease II (MIM#232300);MONDO:0009290 Abnormality of metabolism/homeostasis;HP:0001939 25103075;27365701 False 3 100;0;0 8.460 True ENSG00000171298 ENSG00000171298 HGNC:4065 GABBR2 gene GABBR2 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy, 59 MONDO:0033368;Gamma-aminobutyric acid neurotransmitter disorders Abnormality of metabolism/homeostasis;HP:0001939 35850019 False 3 0;0;0 8.460 False ENSG00000136928 ENSG00000136928 HGNC:4507 GABRA1 gene GABRA1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 19, MIM# 615744 Abnormality of metabolism/homeostasis;HP:0001939 24623842 False 3 100;0;0 8.460 True ENSG00000022355 ENSG00000022355 HGNC:4075 GABRB1 gene GABRB1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy, 45 MONDO:0014942;Gamma-aminobutyric acid neurotransmitter disorders Abnormality of metabolism/homeostasis;HP:0001939 23934111;27273810;35850019;31618474 False 3 0;0;0 8.460 False ENSG00000163288 ENSG00000163288 HGNC:4081 GABRB2 gene GABRB2 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631;Gamma-aminobutyric acid neurotransmitter disorders Abnormality of metabolism/homeostasis;HP:0001939 27789573;35850019;29100083 False 3 0;0;0 8.460 False ENSG00000145864 ENSG00000145864 HGNC:4082 GABRB3 gene GABRB3 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 43, MIM# 617113 Abnormality of metabolism/homeostasis;HP:0001939 23934111;27476654 False 3 100;0;0 8.460 True ENSG00000166206 ENSG00000166206 HGNC:4083 GABRD gene GABRD Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual disability;Epilepsy;Susceptibility to epilepsy, MIM#613060 Abnormality of metabolism/homeostasis;HP:0001939 15115768;34633442 False 3 100;0;0 8.460 True ENSG00000187730 ENSG00000187730 HGNC:4084 GABRG2 gene GABRG2 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 74 618396;Epilepsy, generalized, with febrile seizures plus, type 3 607681 Abnormality of metabolism/homeostasis;HP:0001939 11326274;11326275;27864268 False 3 100;0;0 8.460 True ENSG00000113327 ENSG00000113327 HGNC:4087 GAD1 gene GAD1 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 89, MIM# 619124 Abnormality of metabolism/homeostasis;HP:0001939 28454995;31144778;32282878;15571623;32705143;9177246;9326630;20333300 False 3 100;0;0 8.460 True ENSG00000128683 ENSG00000128683 HGNC:4092 GALC gene GALC Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Krabbe disease, MIM# 245200;MONDO:0009499 Abnormality of metabolism/homeostasis;HP:0001939 20886637 False 3 100;0;0 8.460 True ENSG00000054983 ENSG00000054983 HGNC:4115 GALE gene GALE Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Galactose epimerase deficiency MIM#230350;Disorders of galactose metabolism Abnormality of metabolism/homeostasis;HP:0001939 27604308;9700591 False 3 100;0;0 8.460 True ENSG00000117308 ENSG00000117308 HGNC:4116 GALK1 gene GALK1 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Galactokinase deficiency with cataracts MIM#230200;Disorders of galactose metabolism Abnormality of metabolism/homeostasis;HP:0001939 27604308;5129682 False 3 100;0;0 8.460 True ENSG00000108479 ENSG00000108479 HGNC:4118 GALM gene GALM Expert Review Green;NHS GMS;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Galactosemia IV MIM#618881;Disorders of galactose metabolism Abnormality of metabolism/homeostasis;HP:0001939 30451973;30910422 False 3 100;0;0 8.460 True ENSG00000143891 ENSG00000143891 HGNC:24063 GALNS gene GALNS Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis IVA, MIM# 253000;MONDO:0009659 Abnormality of metabolism/homeostasis;HP:0001939 9298823 False 3 100;0;0 8.460 True ENSG00000141012 ENSG00000141012 HGNC:4122 GALNT2 gene GALNT2 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIt, MIM# 618885 Abnormality of metabolism/homeostasis;HP:0001939 32293671 False 3 100;0;0 8.460 True ENSG00000143641 ENSG00000143641 HGNC:4124 GALNT3 gene GALNT3 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900 Abnormality of metabolism/homeostasis;HP:0001939 15133511;20358599;32125652 False 3 100;0;0 8.460 True ENSG00000115339 ENSG00000115339 HGNC:4125 GALT gene GALT Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Galactosemia MIM#230400;Disorders of galactose metabolism Abnormality of metabolism/homeostasis;HP:0001939 27604308;2011574 False 3 100;0;0 8.460 True ENSG00000213930 ENSG00000213930 HGNC:4135 GAMT gene GAMT Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 2 MIM#612736;Disorders of creatinine metabolism Abnormality of metabolism/homeostasis;HP:0001939 27604308;8651275 False 3 100;0;0 8.460 True ENSG00000130005 ENSG00000130005 HGNC:4136 GAMT gene GAMT Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal guanidinoacetate methyltransferase deficiency MONDO:0012999 Abnormality of metabolism/homeostasis;HP:0001939 20301745;17466557;16293431;12701824;2441567 False 3 100;0;0 8.460 True ENSG00000130005 ENSG00000130005 HGNC:4136 GARS gene GARS Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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 Abnormality of metabolism/homeostasis;HP:0001939 17101916;22462675;31985473;32181591;12690580;25168514;26503042;29648643;16982418;24669931;28594869 False 3 100;0;0 8.460 True ENSG00000106105 ENSG00000106105 HGNC:4162 GATA4 gene GATA4 Expert Review Green;NHS GMS;UKGTN Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted neonatal diabetes mellitus MONDO:0016391 Abnormality of metabolism/homeostasis;HP:0001939 27810688;24696446;20854389 False 3 50;50;0 8.460 True ENSG00000136574 ENSG00000136574 HGNC:4173 GATA6 gene GATA6 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0010802 Abnormality of metabolism/homeostasis;HP:0001939 25706805;25708516;25356219;22158542;27098067;23635550;22806356;24310933;23223019;22962692;26210631;24433315;23639568 False 3 100;0;0 8.460 True ENSG00000141448 ENSG00000141448 HGNC:4174 GATM gene GATM Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal AGAT deficiency MONDO:0012996 Abnormality of metabolism/homeostasis;HP:0001939 26490222;23770102;12468279;27233232 False 3 100;0;0 8.460 True ENSG00000171766 ENSG00000171766 HGNC:4175 GATM gene GATM Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 3 MIM#612718 Abnormality of metabolism/homeostasis;HP:0001939 11555793;27604308 False 3 100;0;0 8.460 False ENSG00000171766 ENSG00000171766 HGNC:4175 GBA gene GBA NHS Genomic Medicine Service;Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 230800 Gaucher disease, type I;230900 Gaucher disease, type II;231005 Gaucher disease, type IIIC;231000 Gaucher disease, type III Abnormality of metabolism/homeostasis;HP:0001939 27265538;27816428;20575041 False 3 0;0;0 8.460 False ENSG00000177628 ENSG00000177628 HGNC:4177 GBA gene GBA Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Gaucher disease, perinatal lethal, MIM# 608013;Gaucher disease, type I, MIM# 230800;Gaucher disease, type II, MIM# 230900;Gaucher disease, type III, MIM# 231000;Gaucher disease, type IIIC, MIM# 231005 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000177628 ENSG00000177628 HGNC:4177 GBE1 gene GBE1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, MIM# 232500 Abnormality of metabolism/homeostasis;HP:0001939 8613547 False 3 100;0;0 8.460 True ENSG00000114480 ENSG00000114480 HGNC:4180 GCDH gene GCDH Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal glutaryl-CoA dehydrogenase deficiency MONDO:0009281 Abnormality of metabolism/homeostasis;HP:0001939 31536184, 7795610, 27476540, 31062211 False 3 100;0;0 8.460 True ENSG00000105607 ENSG00000105607 HGNC:4189 GCDH gene GCDH Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glutaricaciduria, type I MIM#231670;Organic acidurias Abnormality of metabolism/homeostasis;HP:0001939 27604308;8541831;8900227 False 3 100;0;0 8.460 True ENSG00000105607 ENSG00000105607 HGNC:4189 GCH1 gene GCH1 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal GTP cyclohydrolase I deficiency MONDO:0100184 Abnormality of metabolism/homeostasis;HP:0001939 20301681, 9749603, 10582612, 11026444, 15303002 False 3 100;0;0 8.460 True ENSG00000131979 ENSG00000131979 HGNC:4193 GCH1 gene GCH1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910;Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000131979 ENSG00000131979 HGNC:4193 GCK gene GCK Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Diabetes mellitus, noninsulin-dependent, late onset, AD (MIM#125853);Diabetes mellitus, permanent neonatal 1, AR (MIM#606176);Hyperinsulinemic hypoglycemia, familial, 3, AD (MIM#602485);MODY, type II, AD (MIM#125851) Abnormality of metabolism/homeostasis;HP:0001939 19790256 False 3 100;0;0 8.460 True ENSG00000106633 ENSG00000106633 HGNC:4195 GCLC gene GCLC Expert Review Green;Other Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Gamma-glutamylcysteine synthetase deficiency MONDO:0009259;Disorders of glutathione metabolism Abnormality of metabolism/homeostasis;HP:0001939 28571779;10515893;18024385 False 3 100;0;0 8.460 True ENSG00000001084 ENSG00000001084 HGNC:4311 GCLC gene GCLC Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency MIM#230450;Disorders of the gamma-glutamyl cycle Abnormality of metabolism/homeostasis;HP:0001939 27604308;10515893;18024385;11118286;10733484;12663448 False 3 100;0;0 8.460 True ENSG00000001084 ENSG00000001084 HGNC:4311 GCSH gene GCSH Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal glycine encephalopathy MONDO:0011612 Abnormality of metabolism/homeostasis;HP:0001939 33890291;36190515;33569080 False 3 100;0;0 8.460 True ENSG00000140905 ENSG00000140905 HGNC:4208 GCSH gene GCSH Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423" Abnormality of metabolism/homeostasis;HP:0001939 33890291;36190515 False 3 100;0;0 8.460 True ENSG00000140905 ENSG00000140905 HGNC:4208 GDAP1 gene GDAP1 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Charcot-Marie-Tooth disease, axonal, type 2K 607831, MIM# Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM# 607706;Charcot-Marie-Tooth disease, recessive intermediate, A, MIM# 608340;Charcot-Marie-Tooth disease, type 4A, MIM# 214400" Abnormality of metabolism/homeostasis;HP:0001939 16172208;21753178;21365284;20232219;11743580 False 3 100;0;0 8.460 True ENSG00000104381 ENSG00000104381 HGNC:15968 GFER gene GFER Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay (MIM #613076) Abnormality of metabolism/homeostasis;HP:0001939 28155230 False 3 100;0;0 8.460 True ENSG00000127554 ENSG00000127554 HGNC:4236 GFM1 gene GFM1 Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000168827 ENSG00000168827 HGNC:13780 GFM2 gene GFM2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 39, OMIM #618397 Abnormality of metabolism/homeostasis;HP:0001939 22700954;26016410;29075935 False 3 100;0;0 8.460 True ENSG00000164347 ENSG00000164347 HGNC:29682 GFPT1 gene GFPT1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Myasthenia, congenital, 12, with tubular aggregates, 610542;Limb-girdle congenital myasthenic syndrome;Leukoencephalopathy Abnormality of metabolism/homeostasis;HP:0001939 21310273;30635494 False 3 100;0;0 8.460 True ENSG00000198380 ENSG00000198380 HGNC:4241 GGCX gene GGCX Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal vitamin K-dependent clotting factors, combined deficiency of, type 1 MONDO:0010187;Other disorders of vitamin metabolism Abnormality of metabolism/homeostasis;HP:0001939 32785662, 30531603, 26758921 False 3 0;0;0 8.460 False ENSG00000115486 ENSG00000115486 HGNC:4247 GIF gene GIF Expert Review Green;Literature;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Intrinsic factor deficiency MIM#261000;Disorders of cobalamin absorption, transport and metabolism Abnormality of metabolism/homeostasis;HP:0001939 27604308;14695536;14576042 False 3 100;0;0 8.460 True ENSG00000134812 ENSG00000134812 HGNC:4268 GK gene GK Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Glycerol kinase deficiency MIM#307030;Disorders of glycerol metabolism Abnormality of metabolism/homeostasis;HP:0001939 27604308;8499912;8651297 False 3 100;0;0 8.460 True ENSG00000198814 ENSG00000198814 HGNC:4289 GLA gene GLA Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Fabry disease, MIM# 301500;MONDO:0010526 Abnormality of metabolism/homeostasis;HP:0001939 28613767;33673160 False 3 100;0;0 8.460 True ENSG00000102393 ENSG00000102393 HGNC:4296 GLB1 gene GLB1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal GM1-gangliosidosis, type I, MIM# 230500;GM1-gangliosidosis, type II, MIM# 230600;GM1-gangliosidosis, type III, MIM# 230650;Mucopolysaccharidosis type IVB (Morquio), MIM# 253010 Abnormality of metabolism/homeostasis;HP:0001939 1907800;1909089;17309651;11511921 False 3 100;0;0 8.460 True ENSG00000170266 ENSG00000170266 HGNC:4298 GLDC gene GLDC Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy MIM#605899;Disorders of serine, glycine or glycerate metabolism Abnormality of metabolism/homeostasis;HP:0001939 27604308;2246863;1634607 False 3 100;0;0 8.460 True ENSG00000178445 ENSG00000178445 HGNC:4313 GLDC gene GLDC Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal glycine encephalopathy MONDO:0011612 Abnormality of metabolism/homeostasis;HP:0001939 25736695;27362913;26179960;24407464 False 3 100;0;0 8.460 True ENSG00000178445 ENSG00000178445 HGNC:4313 GLIS3 gene GLIS3 Expert Review Green;UKGTN Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal neonatal diabetes mellitus with congenital hypothyroidism MONDO:0012436 Abnormality of metabolism/homeostasis;HP:0001939 16715098;21139041;35394098 False 3 100;0;0 8.460 True ENSG00000107249 ENSG00000107249 HGNC:28510 GLRA1 gene GLRA1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 1, MIM# 149400 Abnormality of metabolism/homeostasis;HP:0001939 8298642;16832093 False 3 100;0;0 8.460 True ENSG00000145888 ENSG00000145888 HGNC:4326 GLRB gene GLRB Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 2, MIM# 614619 Abnormality of metabolism/homeostasis;HP:0001939 21391991;11929858;27843043 False 3 100;0;0 8.460 True ENSG00000109738 ENSG00000109738 HGNC:4329 GLRX5 gene GLRX5 Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000182512 ENSG00000182512 HGNC:20134 GLRX5 gene GLRX5 NHS Genomic Medicine Service;Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 616860 Anemia, sideroblastic, 3, pyridoxine-refractory;Sideroblastic anaemia - increased serum ferritin Abnormality of metabolism/homeostasis;HP:0001939 24003969;30401706;25342667;30098397 False 3 0;0;0 8.460 False ENSG00000182512 ENSG00000182512 HGNC:20134 GLS gene GLS Expert Review Green;NHS GMS;Expert list Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 71 MIM#618328;Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412;disorder of amino acid metabolism Abnormality of metabolism/homeostasis;HP:0001939 30575854;30970188;30239721 False 3 100;0;0 8.460 True ENSG00000115419 ENSG00000115419 HGNC:4331 GLS gene GLS Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Glutaminase deficiency MONDO:0600001;Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development MONDO:0032685 Abnormality of metabolism/homeostasis;HP:0001939 29468182;30575854;30970188;16641247;30239721;37151363 False 3 50;50;0 8.460 True ENSG00000115419 ENSG00000115419 HGNC:4331 GLUD1 gene GLUD1 Expert Review Green;Genomics England PanelApp;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinism-hyperammonemia syndrome, 606762 Abnormality of metabolism/homeostasis;HP:0001939 11214910;10636977 False 3 100;0;0 8.460 False ENSG00000148672 ENSG00000148672 HGNC:4335 GLUD1 gene GLUD1 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hyperinsulinism-hyperammonemia syndrome MONDO:0011717 Abnormality of metabolism/homeostasis;HP:0001939 9571255;11214910;26759084 False 3 100;0;0 8.460 True ENSG00000148672 ENSG00000148672 HGNC:4335 GLUD1 gene GLUD1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinism-hyperammonemia syndrome, MIM# 606762 Abnormality of metabolism/homeostasis;HP:0001939 11214910;11297618 False 3 100;0;0 8.460 True ENSG00000148672 ENSG00000148672 HGNC:4335 GLUL gene GLUL Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Glutamine deficiency, congenital MIM#610015;Developmental and epileptic encephalopathy 116, MIM# 620806 Abnormality of metabolism/homeostasis;HP:0001939 16267323;21353613;33150193 False 3 100;0;0 8.460 True ENSG00000135821 ENSG00000135821 HGNC:4341 GLUL gene GLUL Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal congenital brain dysgenesis due to glutamine synthetase deficiency MONDO:0012393 Abnormality of metabolism/homeostasis;HP:0001939 25870278;20140959;30053506 False 3 100;0;0 8.460 True ENSG00000135821 ENSG00000135821 HGNC:4341 GLYCTK gene GLYCTK Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal D-glyceric aciduria MIM#220120;Disorders of serine, glycine or glycerate metabolism Abnormality of metabolism/homeostasis;HP:0001939 20949620;31837836 False 3 100;0;0 8.460 True ENSG00000168237 ENSG00000168237 HGNC:24247 GM2A gene GM2A Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "GM2-gangliosidosis, AB variant, MIM# 272750" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000196743 ENSG00000196743 HGNC:4367 GMPPA gene GMPPA Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Alacrima, achalasia, and impaired intellectual development syndrome (MIM# 615510) Abnormality of metabolism/homeostasis;HP:0001939 24035193;28574218 False 3 100;0;0 8.460 True ENSG00000144591 ENSG00000144591 HGNC:22923 GMPPB gene GMPPB Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 (MIM# 615350);Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 (MIM# 615351);Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 (MIM# 615352) Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000173540 ENSG00000173540 HGNC:22932 GNE gene GNE Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Nonaka myopathy 605820;Sialuria MIM#269921;ADUDP-GlcNAc epimerase/kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) Abnormality of metabolism/homeostasis;HP:0001939 12177386;12473753;32053088;29923088;10356312;11326336;11486897;27142465 False 3 100;0;0 8.460 True ENSG00000159921 ENSG00000159921 HGNC:23657 GNE gene GNE Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Nonaka myopathy, MIM# 605820" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000159921 ENSG00000159921 HGNC:23657 GNMT gene GNMT Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycine N-methyltransferase deficiency MIM#606664;Disorders of the metabolism of sulphur amino acids Abnormality of metabolism/homeostasis;HP:0001939 11810299;14739680;17937387;27207470 False 3 100;0;0 8.460 True ENSG00000124713 ENSG00000124713 HGNC:4415 GNPAT gene GNPAT Victorian Clinical Genetics Services;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000116906 ENSG00000116906 HGNC:4416 GNPTAB gene GNPTAB Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mucolipidosis II alpha/beta, MIM# 252500;MONDO:0009650;Mucolipidosis III alpha/beta, MIM# 252600;MONDO:0018931 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000111670 ENSG00000111670 HGNC:29670 GNPTG gene GNPTG Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mucolipidosis III gamma, MIM# 252605;MONDO:0009652 Abnormality of metabolism/homeostasis;HP:0001939 10712439;19370764;19659762;33507475;33023972;32651481 False 3 100;0;0 8.460 True ENSG00000090581 ENSG00000090581 HGNC:23026 GNS gene GNS Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIID, MIM# 252940;Sanfilippo syndrome type D, MONDO:0009658 Abnormality of metabolism/homeostasis;HP:0001939 12573255;12624138;31536183;25851924 False 3 100;0;0 8.460 True ENSG00000135677 ENSG00000135677 HGNC:4422 GORAB gene GORAB Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Geroderma osteodysplasticum MIM#231070 Abnormality of metabolism/homeostasis;HP:0001939 PMID: 18348262;28807865;30631079. False 3 100;0;0 8.460 True ENSG00000120370 ENSG00000120370 HGNC:25676 GPAA1 gene GPAA1 Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Glycosylphosphatidylinositol biosynthesis defect 15, MIM# 617810" Abnormality of metabolism/homeostasis;HP:0001939 29100095 False 3 100;0;0 8.460 True ENSG00000197858 ENSG00000197858 HGNC:4446 GPD1 gene GPD1 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hypertriglyceridemia, transient infantile MIM#614480;glycerol-3-phosphate dehydrogenase deficiency Abnormality of metabolism/homeostasis;HP:0001939 32591995;22226083;33447932 False 3 100;0;0 8.460 True ENSG00000167588 ENSG00000167588 HGNC:4455 GPD1 gene GPD1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of mitochondrial shuttles and carriers;transient infantile hypertriglyceridemia and hepatosteatosis MONDO:0013771 Abnormality of metabolism/homeostasis;HP:0001939 29884839;35988808;24549054 False 3 0;0;0 8.460 False ENSG00000167588 ENSG00000167588 HGNC:4455 GPHN gene GPHN Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of molybdenum cofactor metabolism;sulfite oxidase deficiency due to molybdenum cofactor deficiency type C MONDO:0014212 Abnormality of metabolism/homeostasis;HP:0001939 27604308, 11095995, 22040219, 9812897 False 3 0;0;0 8.460 False ENSG00000171723 ENSG00000171723 HGNC:15465 GPHN gene GPHN Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency C MIM#615501;Disorders of molybdenum cofactor metabolism Abnormality of metabolism/homeostasis;HP:0001939 27604308;11095995;22040219;9812897 False 3 100;0;0 8.460 True ENSG00000171723 ENSG00000171723 HGNC:15465 GPIHBP1 gene GPIHBP1 Expert Review Green;Expert list;Royal Melbourne Hospital;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperlipoproteinemia, type ID Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000182851 ENSG00000277494 HGNC:24945 GPX4 gene GPX4 Expert Review Green;Other Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia, Sedaghatian type MONDO:0009593;Disorders of glutathione metabolism Abnormality of metabolism/homeostasis;HP:0001939 24706940;32827718 False 3 100;0;0 8.460 True ENSG00000167468 ENSG00000167468 HGNC:4556 GRHPR gene GRHPR Expert Review Green;Other Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal primary hyperoxaluria type 2 MONDO:0009824;Disorders of glyoxylate and oxalate metabolism Abnormality of metabolism/homeostasis;HP:0001939 24116921 False 3 100;0;0 8.460 True ENSG00000137106 ENSG00000137106 HGNC:4570 GRIA3 gene GRIA3 Expert Review Green 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) Glutamate neurotransmitter disorders;X-linked complex neurodevelopmental disorder MONDO:0100148 Abnormality of metabolism/homeostasis;HP:0001939 38038360 False 3 0;0;0 8.460 False ENSG00000125675 ENSG00000125675 HGNC:4573 GRIA4 gene GRIA4 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glutamate neurotransmitter disorders;Neurodevelopmental disorder with or without seizures and gait abnormalities MONDO:0060641 Abnormality of metabolism/homeostasis;HP:0001939 35518358;29220673 False 3 0;0;0 8.460 False ENSG00000152578 ENSG00000152578 HGNC:4574 GRIN1 gene GRIN1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Glutamate neurotransmitter disorders;Complex neurodevelopmental disorder MONDO:0100038 Abnormality of metabolism/homeostasis;HP:0001939 29365063;27164704;28051072 False 3 0;0;0 8.460 False ENSG00000176884 ENSG00000176884 HGNC:4584 GRIN2A gene GRIN2A Expert Review Green Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glutamate neurotransmitter disorders;Complex neurodevelopmental disorder MONDO:0100038 Abnormality of metabolism/homeostasis;HP:0001939 30544257 False 3 0;0;0 8.460 False ENSG00000183454 ENSG00000183454 HGNC:4585 GRIN2B gene GRIN2B Expert Review Green Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glutamate neurotransmitter disorders;Complex neurodevelopmental disorder MONDO:0100038 Abnormality of metabolism/homeostasis;HP:0001939 28377535 False 3 0;0;0 8.460 False ENSG00000273079 ENSG00000273079 HGNC:4586 GRIN2D gene GRIN2D Expert Review Green Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glutamate neurotransmitter disorders;Complex neurodevelopmental disorder MONDO:0100038 Abnormality of metabolism/homeostasis;HP:0001939 30280376;27616483 False 3 0;0;0 8.460 False ENSG00000105464 ENSG00000105464 HGNC:4588 GRM1 gene GRM1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Cerebellar ataxia MONDO:0000437;Glutamate neurotransmitter disorders Abnormality of metabolism/homeostasis;HP:0001939 26308914;31319223;22901947 False 3 0;0;0 8.460 False ENSG00000152822 ENSG00000152822 HGNC:4593 GRM6 gene GRM6 Expert Review Green;Other Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal GRM6-related retinopathy MONDO:0800397 Abnormality of metabolism/homeostasis;HP:0001939 22008250 False 3 100;0;0 8.460 True ENSG00000113262 ENSG00000113262 HGNC:4598 GRN gene GRN Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal neuronal ceroid lipofuscinosis MONDO:0016295;GRN-related frontotemporal lobar degeneration with Tdp43 inclusions MONDO:0011842 Abnormality of metabolism/homeostasis;HP:0001939 37981505;38347588;29884839 False 3 0;0;0 8.460 False ENSG00000030582 ENSG00000030582 HGNC:4601 GSS gene GSS Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glutathione synthetase deficiency MIM#266130;Hemolytic anemia due to glutathione synthetase deficiency MIM#231900;Disorders of the gamma-glutamyl cycle Abnormality of metabolism/homeostasis;HP:0001939 8896573 False 3 100;0;0 8.460 True ENSG00000100983 ENSG00000100983 HGNC:4624 GSS gene GSS Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal inherited glutathione synthetase deficiency MONDO:0017909 Abnormality of metabolism/homeostasis;HP:0001939 17397529 False 3 100;0;0 8.460 True ENSG00000100983 ENSG00000100983 HGNC:4624 GTPBP3 gene GTPBP3 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 23, MIM#616198 Abnormality of metabolism/homeostasis;HP:0001939 34276756;25434004 False 3 100;0;0 8.460 True ENSG00000130299 ENSG00000130299 HGNC:14880 GUK1 gene GUK1 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 21, MIM# 621071 Abnormality of metabolism/homeostasis;HP:0001939 39230499 False 3 100;0;0 8.460 True ENSG00000143774 ENSG00000143774 HGNC:4693 GUK1 gene GUK1 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 21, MIM# 621071 Abnormality of metabolism/homeostasis;HP:0001939 39230499 False 3 100;0;0 8.460 True ENSG00000143774 ENSG00000143774 HGNC:4693 GUSB gene GUSB Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis VII, MIM# 253220;MONDO:0009662 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000169919 ENSG00000169919 HGNC:4696 GYG1 gene GYG1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XV, MIM# 613507;Polyglucosan body myopathy 2, MIM# 616199 Abnormality of metabolism/homeostasis;HP:0001939 31791869;20357282;27718144 False 3 100;0;0 8.460 True ENSG00000163754 ENSG00000163754 HGNC:4699 GYS1 gene GYS1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Glycogen storage disease 0, muscle, MIM# 611556" Abnormality of metabolism/homeostasis;HP:0001939 17928598;19699667;21958591 False 3 100;0;0 8.460 True ENSG00000104812 ENSG00000104812 HGNC:4706 GYS2 gene GYS2 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease 0, liver (MIM#240600) Abnormality of metabolism/homeostasis;HP:0001939 32395408;28245189 False 3 100;0;0 8.460 True ENSG00000111713 ENSG00000111713 HGNC:4707 HAAO gene HAAO Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal vertebral, cardiac, renal, and limb defects syndrome 1 MONDO:0060554 Abnormality of metabolism/homeostasis;HP:0001939 37499065;28792876;33942433 False 3 100;0;0 8.460 True ENSG00000162882 ENSG00000162882 HGNC:4796 HAAO gene HAAO Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660;NAD deficiency Abnormality of metabolism/homeostasis;HP:0001939 28792876;33942433 False 3 100;0;0 8.460 True ENSG00000162882 ENSG00000162882 HGNC:4796 HADH gene HADH Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530;Hyperinsulinemic hypoglycemia, familial, 4, MIM# 609975;SCHAD deficiency, MONDO:0009278 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000138796 ENSG00000138796 HGNC:4799 HADH gene HADH Expert Review Green;Expert Review Green;NHS GMS;Literature;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-hydroxyacyl-CoA dehydrogenase deficiency MIM#231530 Abnormality of metabolism/homeostasis;HP:0001939 25778941;23430856;27771675;11489939 False 3 100;0;0 8.460 True ENSG00000138796 ENSG00000138796 HGNC:4799 HADHA gene HADHA Expert Review Green;Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal LCHAD deficiency MIM#609016;Trifunctional protein deficiency MIM#609015 Abnormality of metabolism/homeostasis;HP:0001939 25778941;7811722;29459657 False 3 100;0;0 8.460 True ENSG00000084754 ENSG00000084754 HGNC:4801 HADHA gene HADHA Expert Review Green;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Trifunctional protein deficiency 609015 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000084754 ENSG00000084754 HGNC:4801 HADHA gene HADHA Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal LCHAD deficiency, MIM# 609016 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Trifunctional protein deficiency, MIM# 609015 Abnormality of metabolism/homeostasis;HP:0001939 30682426;28515471 False 3 100;0;0 8.460 True ENSG00000138029 ENSG00000138029 HGNC:4803 HADHB gene HADHB Expert Review Green;Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Trifunctional protein deficiency MIM#609015 Abnormality of metabolism/homeostasis;HP:0001939 25778941;30682426;9259266;29956646 False 3 100;0;0 8.460 True ENSG00000138029 ENSG00000138029 HGNC:4803 HADHB gene HADHB Expert Review Green;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Trifunctional protein deficiency 609015 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000138029 ENSG00000138029 HGNC:4803 HAMP gene HAMP Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2B 613313 Abnormality of metabolism/homeostasis;HP:0001939 33861982;12469120;34828384;15198949;33016646 False 3 100;0;0 8.460 True ENSG00000105697 ENSG00000105697 HGNC:15598 HAMP gene HAMP NHS Genomic Medicine Service;Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 613313 Hemochromatosis, type 2B;613313 HEMOCHROMATOSIS, TYPE 2B;HFE2B Abnormality of metabolism/homeostasis;HP:0001939 12915468;15198949;12469120 False 3 0;0;0 8.460 False ENSG00000105697 ENSG00000105697 HGNC:15598 HARS2 gene HARS2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 2, MIM# 614926 Abnormality of metabolism/homeostasis;HP:0001939 31827252 False 3 100;0;0 8.460 True ENSG00000112855 ENSG00000112855 HGNC:4817 HCCS gene HCCS Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000004961 ENSG00000004961 HGNC:4837 HCFC1 gene HCFC1 Expert Review Green;Literature;NHS GMS Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females methylmalonic acidemia with homocystinuria, type cblX MONDO:0010657;disorder of cobalamin metabolism Abnormality of metabolism/homeostasis;HP:0001939 24011988 False 3 100;0;0 8.460 True ENSG00000172534 ENSG00000172534 HGNC:4839 HEXA gene HEXA Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, several forms, MIM# 272800;Tay-Sachs disease, MIM# 272800;MONDO:0010100 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800;MONDO:0010006 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000049860 ENSG00000049860 HGNC:4879 HFE gene HFE Expert Review Green;Radboud University Medical Center, Nijmegen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal haemochromatosis type 1 MONDO:0021001 Abnormality of metabolism/homeostasis;HP:0001939 8696333;10575540;20301613;38560130 False 3 100;0;0 8.460 True ENSG00000010704 ENSG00000010704 HGNC:4886 HFE gene HFE NHS Genomic Medicine Service;Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 235200 Hemochromatosis;235200 HEMOCHROMATOSIS, TYPE 1;235200HEMOCHROMATOSIS, TYPE 1;HFE1 Abnormality of metabolism/homeostasis;HP:0001939 18199861 False 3 0;0;0 8.460 False ENSG00000010704 ENSG00000010704 HGNC:4886 HFE2 gene HFE2 Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2A, 602390 Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 True ENSG00000168509 ENSG00000168509 HGNC:4887 HFE2 gene HFE2 NHS Genomic Medicine Service;Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal HFE2A;602390 HEMOCHROMATOSIS, TYPE 2A;602390 Hemochromatosis, type 2A Abnormality of metabolism/homeostasis;HP:0001939 14982873 False 3 0;0;0 8.460 False ENSG00000168509 ENSG00000168509 HGNC:4887 HGD gene HGD Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Alkaptonuria MIM#203500;Disorders of phenylalanine or tyrosine metabolism Abnormality of metabolism/homeostasis;HP:0001939 8782815;27604308 False 3 100;0;0 8.460 True ENSG00000113924 ENSG00000113924 HGNC:4892 HGD gene HGD Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal alkaptonuria MONDO:0008753 Abnormality of metabolism/homeostasis;HP:0001939 8782815;9529363;9154114;9674916 False 3 100;0;0 8.460 True ENSG00000113924 ENSG00000113924 HGNC:4892 HGSNAT gene HGSNAT Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930;MONDO:0009657;Retinitis pigmentosa 73, MIM# 616544;MONDO:0014687 Abnormality of metabolism/homeostasis;HP:0001939 17033958;25859010;19479962;31228227;20825431;20583299 False 3 100;0;0 8.460 True ENSG00000165102 ENSG00000165102 HGNC:26527 HIBCH gene HIBCH Expert Review Green;Literature;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603 Abnormality of metabolism/homeostasis;HP:0001939 29152456;26026795;25251209;24299452;32677093 False 3 100;0;0 8.460 True ENSG00000198130 ENSG00000198130 HGNC:4908 HIBCH gene HIBCH Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000198130 ENSG00000198130 HGNC:4908 HLCS gene HLCS Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Holocarboxylase synthetase deficiency, MIM# 253270 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000159267 ENSG00000159267 HGNC:4976 HLCS gene HLCS ClinGen;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of biotin metabolism;holocarboxylase synthetase deficiency MONDO:0009666 Abnormality of metabolism/homeostasis;HP:0001939 10190325 False 3 0;0;0 8.460 False ENSG00000159267 ENSG00000159267 HGNC:4976 HLCS gene HLCS Expert Review Green;Genomics England PanelApp;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Holocarboxylase synthetase deficiency 253270" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000159267 ENSG00000159267 HGNC:4976 HMBS gene HMBS Expert Review Green;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porphyria, acute intermittent, 176000;Porphyria, acute intermittent, nonerythroid variant, 176000 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000256269 ENSG00000256269 HGNC:4982 HMGCL gene HMGCL Expert Review Green;Genomics England PanelApp;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000117305 ENSG00000117305 HGNC:5005 HMGCL gene HMGCL Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal HMG-CoA lyase deficiency, MIM# 246450 Abnormality of metabolism/homeostasis;HP:0001939 8617516 False 3 100;0;0 8.460 True ENSG00000117305 ENSG00000117305 HGNC:5005 HMGCL gene HMGCL Expert Review Green;Literature;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-hydroxy-3-methylglutaric aciduria MONDO:0009520 Abnormality of metabolism/homeostasis;HP:0001939 29152456;8617516 False 3 100;0;0 8.460 True ENSG00000117305 ENSG00000117305 HGNC:5005 HMGCL gene HMGCL Expert Review Green;Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal HMG-CoA lyase deficiency MIM#246450 Abnormality of metabolism/homeostasis;HP:0001939 25778941;11129331;19036343 False 3 100;0;0 8.460 True ENSG00000117305 ENSG00000117305 HGNC:5005 HMGCS2 gene HMGCS2 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal HMG-CoA synthase-2 deficiency, MIM# 605911 Abnormality of metabolism/homeostasis;HP:0001939 33045405 False 3 100;0;0 8.460 True ENSG00000134240 ENSG00000134240 HGNC:5008 HMGCS2 gene HMGCS2 Expert Review Green;Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal HMG-CoA synthase-2 deficiency MIM#605911 Abnormality of metabolism/homeostasis;HP:0001939 25778941;9337379;23751782 False 3 100;0;0 8.460 True ENSG00000134240 ENSG00000134240 HGNC:5008 HMOX1 gene HMOX1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of haem degradation and bilirubin metabolism;heme oxygenase 1 deficiency MONDO:0013536 Abnormality of metabolism/homeostasis;HP:0001939 21088618, 9884342, 20844238, 33066778 False 3 0;0;0 8.460 False ENSG00000100292 ENSG00000100292 HGNC:5013 HNF1A gene HNF1A NHS GMS;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3;Maturity-Onset Diabetes Of The Young;MODY, type III, 600496;Maturity-onset diabetes of the young (MODY);MODY, type III, 600496{Diabetes mellitus, noninsulin-dependent, 2}, 125853{Diabetes mellitus, insulin-dependent}, 222100Hepatic adenoma, somatic, 142330Renal cell carcinoma, 144700Diabetes mellitus, insulin-dependent, 20, 612520;{Diabetes mellitus, noninsulin-dependent, 2}, 125853;Diabetes mellitus, insulin-dependent, 20, 612520;{Diabetes mellitus, insulin-dependent}, 222100;Maturity Onset Diabetes of the Young;MODY3 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000135100 ENSG00000135100 HGNC:11621 HNF1B gene HNF1B Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted renal cysts and diabetes syndrome MONDO:0007669 Abnormality of metabolism/homeostasis;HP:0001939 25536396;9703339;10484768 False 3 100;0;0 8.460 True ENSG00000108753 ENSG00000275410 HGNC:11630 HNF4A gene HNF4A Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026;Maturity-Onset Diabetes Of The Young, Type 1;MODY1, 125850;{Diabetes mellitus, noninsulin-dependent}, 125853 Abnormality of metabolism/homeostasis;HP:0001939 28242437;8945471;11590126 False 3 100;0;0 8.460 True ENSG00000101076 ENSG00000101076 HGNC:5024 HOGA1 gene HOGA1 Expert Review Green;Other Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal primary hyperoxaluria type 3 MONDO:0013327;Disorders of ornithine, proline and hydroxyproline metabolism Abnormality of metabolism/homeostasis;HP:0001939 26401545;21896830;20797690 False 3 100;0;0 8.460 True ENSG00000241935 ENSG00000241935 HGNC:25155 HPD gene HPD Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hawkinsinuria MIM#140350;Tyrosinemia, type III MIM#276710;Disorders of phenylalanine or tyrosine metabolism Abnormality of metabolism/homeostasis;HP:0001939 10942115;11073718;27604308 False 3 100;0;0 8.460 True ENSG00000158104 ENSG00000158104 HGNC:5147 HPD gene HPD Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal tyrosinemia type III MONDO:0010162;hawkinsinuria MONDO:0007700 Abnormality of metabolism/homeostasis;HP:0001939 10942115, 11073718, 28649543, 11073718, 31342835 False 3 100;0;0 8.460 True ENSG00000158104 ENSG00000158104 HGNC:5147 HPDL gene HPDL Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), MIM#619026;Progressive neurological disorder;Leigh-like syndrome Abnormality of metabolism/homeostasis;HP:0001939 32707086 False 3 100;0;0 8.460 True ENSG00000186603 ENSG00000186603 HGNC:28242 HPRT1 gene HPRT1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lesch-Nyhan syndrome MONDO:0010298;Disorders of purine metabolism Abnormality of metabolism/homeostasis;HP:0001939 2928313;23975452;20176575 False 3 100;0;0 8.460 False ENSG00000165704 ENSG00000165704 HGNC:5157 HPS1 gene HPS1 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Hermansky-Pudlak syndrome 1, MIM# 203300" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000107521 ENSG00000107521 HGNC:5163 HS2ST1 gene HS2ST1 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194;Developmental delay and corpus callosum, skeletal, and renal abnormalities;disorder of glycosaminoglycan metabolism Abnormality of metabolism/homeostasis;HP:0001939 33159882 False 3 100;0;0 8.460 True ENSG00000153936 ENSG00000153936 HGNC:5193 HSD17B10 gene HSD17B10 Expert Review Green;Victorian Clinical Genetics Services 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) HSD10 mitochondrial disease, MIM# 300438 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000072506 ENSG00000072506 HGNC:4800 HSD17B10 gene HSD17B10 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000072506 ENSG00000072506 HGNC:4800 HSD17B4 gene HSD17B4 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal D-bifunctional protein deficiency, AR (MIM#261515);Perrault syndrome 1, AR (MIM#233400) Abnormality of metabolism/homeostasis;HP:0001939 27790638 False 3 100;0;0 8.460 True ENSG00000133835 ENSG00000133835 HGNC:5213 HSD3B7 gene HSD3B7 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 1 MIM#607765;Disorders of bile acid biosynthesis Abnormality of metabolism/homeostasis;HP:0001939 11067870;27604308 False 3 100;0;0 8.460 True ENSG00000099377 ENSG00000099377 HGNC:18324 HSPA9 gene HSPA9 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal even-plus syndrome MONDO:0014801;Disorders of mitochondrial protein quality control Abnormality of metabolism/homeostasis;HP:0001939 29884839;21123823;26598328 False 3 0;0;0 8.460 False ENSG00000113013 ENSG00000113013 HGNC:5244 HSPD1 gene HSPD1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000144381 ENSG00000144381 HGNC:5261 HTRA2 gene HTRA2 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "3-methylglutaconic aciduria, type VIII, MIM# 617248" Abnormality of metabolism/homeostasis;HP:0001939 27208207;27696117 False 3 100;0;0 8.460 True ENSG00000115317 ENSG00000115317 HGNC:14348 IARS2 gene IARS2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000067704 ENSG00000067704 HGNC:29685 IBA57 gene IBA57 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 3, MIM# 615330 Abnormality of metabolism/homeostasis;HP:0001939 23462291;25971455;27785568;28671726;28913435 False 3 100;0;0 8.460 True ENSG00000181873 ENSG00000181873 HGNC:27302 IDH2 gene IDH2 Expert Review Green;Expert Review Green;Literature;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted D-2-hydroxyglutaric aciduria 2 MIM#613657 Abnormality of metabolism/homeostasis;HP:0001939 25778941;27142242;20847235;24049096 False 3 100;0;0 8.460 True ENSG00000182054 ENSG00000182054 HGNC:5383 IDH3A gene IDH3A Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 90, MIM#619007 Abnormality of metabolism/homeostasis;HP:0001939 31012789;30478029;30058936;28412069 False 3 100;0;0 8.460 True ENSG00000166411 ENSG00000166411 HGNC:5384 IDS gene IDS Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mucopolysaccharidosis II, MIM# 309900;MONDO:0010674;Hunter syndrome Abnormality of metabolism/homeostasis;HP:0001939 9921913;9762601;8940265;1901826 False 3 100;0;0 8.460 True ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Ih, MIM# 607014;Mucopolysaccharidosis Ih/s, MIM# 607015;Mucopolysaccharidosis Is, MIM# 607016;Mucopolysaccharidosis type 1, MONDO:0001586 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000127415 ENSG00000127415 HGNC:5391 IER3IP1 gene IER3IP1 Expert Review Green;UKGTN Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231;Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647 Abnormality of metabolism/homeostasis;HP:0001939 22991235;24138066;21835305 False 3 100;0;0 8.460 True ENSG00000134049 ENSG00000134049 HGNC:18550 IFIH1 gene IFIH1 Expert Review Green;Expert Review Green;Expert Review;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Disorders of ectonucleotide and nucleic acid metabolism;Aicardi-Goutieres syndrome 7, MIM#615846;Early-onset Inflammatory Bowel Disease Abnormality of metabolism/homeostasis;HP:0001939 34185153;24686847 False 3 100;0;0 8.460 False ENSG00000115267 ENSG00000115267 HGNC:18873 IL2RA gene IL2RA NHS GMS;Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Neoantal diabetes, congenital hypothyrodism (multiple autoimmune) Recessive;{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942;insulin-dependent diabetes mellitus at 8-weeks;IPEX-like syndrome;neonatal diabetes Abnormality of metabolism/homeostasis;HP:0001939 17196245 False 3 0;100;0 8.460 False ENSG00000134460 ENSG00000134460 HGNC:6008 IMPDH1 gene IMPDH1 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Disorders of purine metabolism;retinitis pigmentosa MONDO:0019200 Abnormality of metabolism/homeostasis;HP:0001939 11875049;16384941;11875050 False 3 100;0;0 8.460 False ENSG00000106348 ENSG00000106348 HGNC:6052 INS gene INS Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal diabetes mellitus, permanent neonatal 4 MONDO:0030089;maturity-onset diabetes of the young type 10 MONDO:0013240 Abnormality of metabolism/homeostasis;HP:0001939 17855560;18451997;18162506;18192540;32034745;30182532 False 3 100;0;0 8.460 True ENSG00000254647 ENSG00000254647 HGNC:6081 INSR gene INSR Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal insulin-resistance syndrome type A MONDO:0012520;Rabson-Mendenhall syndrome MONDO:0009874;Donohue syndrome MONDO:0009517 Abnormality of metabolism/homeostasis;HP:0001939 34965699;8288049;28765322 False 3 100;0;0 8.460 True ENSG00000171105 ENSG00000171105 HGNC:6091 ISCA1 gene ISCA1 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Multiple mitochondrial dysfunctions syndrome 5, MIM# 617613" Abnormality of metabolism/homeostasis;HP:0001939 28356563;32092383;31016283;30113620;30105122 False 3 100;0;0 8.460 True ENSG00000135070 ENSG00000135070 HGNC:28660 ISCA2 gene ISCA2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 4, MIM# 616370 Abnormality of metabolism/homeostasis;HP:0001939 25539947;29297947;29122497;29359243 False 3 100;0;0 8.460 True ENSG00000165898 ENSG00000165898 HGNC:19857 ISCU gene ISCU Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000136003 ENSG00000136003 HGNC:29882 ISPD gene ISPD Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000214960 ENSG00000214960 HGNC:37276 ITPA gene ITPA Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Inosine triphosphatase deficiency MIM#613850;Developmental and epileptic encephalopathy 35 MIM#616647;Disorders of purine metabolism Abnormality of metabolism/homeostasis;HP:0001939 27604308;12384777 False 3 100;0;0 8.460 True ENSG00000125877 ENSG00000125877 HGNC:6176 ITPA gene ITPA Expert Review Green;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of purine metabolism;Inosine triphosphatase deficiency MIM#613850;Developmental and epileptic encephalopathy 35 MIM#616647 Abnormality of metabolism/homeostasis;HP:0001939 12384777;27604308 False 3 100;0;0 8.460 False ENSG00000125877 ENSG00000125877 HGNC:6176 IVD gene IVD Expert Review Green;Literature;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal isovaleric acidemia MONDO:0009475 Abnormality of metabolism/homeostasis;HP:0001939 29152456;15486829 False 3 100;0;0 8.460 True ENSG00000128928 ENSG00000128928 HGNC:6186 IVD gene IVD Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Isovaleric acidaemia, MIM# 243500 Abnormality of metabolism/homeostasis;HP:0001939 23063737;26018748;24019846;23587913;15486829 False 3 100;0;0 8.460 True ENSG00000128928 ENSG00000128928 HGNC:6186 KARS gene KARS Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000065427 ENSG00000065427 HGNC:6215 KCNJ10 gene KCNJ10 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal EAST syndrome MONDO:0013005, SESAME syndrome, MIM# 612780;Disorders of magnesium metabolism Abnormality of metabolism/homeostasis;HP:0001939 19289823, 21849804, 11466414 False 3 0;0;0 8.460 False ENSG00000177807 ENSG00000177807 HGNC:6256 KCNJ11 gene KCNJ11 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted permanent neonatal diabetes mellitus MONDO:0100164 Abnormality of metabolism/homeostasis;HP:0001939 30086875;20922570;28824061;15115830;23626843 False 3 100;0;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 ENSG00000187486 ENSG00000187486 HGNC:6257 KCTD7 gene KCTD7 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Progressive myoclonus epilepsy MONDO:0020074;Neuronal ceroid lipofuscinosis Abnormality of metabolism/homeostasis;HP:0001939 36368077;30295347;29884839 False 3 0;0;0 8.460 False ENSG00000243335 ENSG00000243335 HGNC:21957 KIAA0391 gene KIAA0391 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Combined oxidative phosphorylation deficiency 54, MIM# 619737" Abnormality of metabolism/homeostasis;HP:0001939 PMID: 34715011 False 3 100;0;0 8.460 True ENSG00000100890 ENSG00000100890 HGNC:19958 KYNU gene KYNU Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hydroxykynureninuria MIM#236800;Vertebral, cardiac, renal, and limb defects syndrome 2 MIM#617661;Disorders of histidine, tryptophan or lysine metabolism Abnormality of metabolism/homeostasis;HP:0001939 17334708;28792876;31923704 False 3 100;0;0 8.460 True ENSG00000115919 ENSG00000115919 HGNC:6469 KYNU gene KYNU Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal vertebral, cardiac, renal, and limb defects syndrome 2 MONDO:0060555 Abnormality of metabolism/homeostasis;HP:0001939 37499065, 28792876, 33942433, 31923704, 17334708, 34200361 False 3 100;0;0 8.460 True ENSG00000115919 ENSG00000115919 HGNC:6469 L2HGDH gene L2HGDH Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of mitochondrial metabolite repair;L-2-hydroxyglutaric aciduria MONDO:0009370 Abnormality of metabolism/homeostasis;HP:0001939 29884839;37995940 False 3 0;0;0 8.460 False ENSG00000087299 ENSG00000087299 HGNC:20499 L2HGDH gene L2HGDH Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal L-2-hydroxyglutaric aciduria MIM#236792;organic acidurias Abnormality of metabolism/homeostasis;HP:0001939 27604308;15385440 False 3 100;0;0 8.460 True ENSG00000087299 ENSG00000087299 HGNC:20499 LAMP2 gene LAMP2 Expert Review Green;Victorian Clinical Genetics Services 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) Danon disease, MIM# 300257;MONDO:0010281 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000005893 ENSG00000005893 HGNC:6501 LAMP2 gene LAMP2 Expert Review Green;Victorian Clinical Genetics Services 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) Danon disease, MIM# 300257 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000005893 ENSG00000005893 HGNC:6501 LARGE1 gene LARGE1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000133424 ENSG00000133424 HGNC:6511 LARS gene LARS Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Infantile liver failure syndrome 1 MIM#615438;disorder of leucine metabolism Abnormality of metabolism/homeostasis;HP:0001939 22607940;30349989;28774368 False 3 100;0;0 8.460 True ENSG00000133706 ENSG00000133706 HGNC:6512 LARS2 gene LARS2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000011376 ENSG00000011376 HGNC:17095 LBR gene LBR Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Greenberg skeletal dysplasia MIM#215140;Disorders of sterol biosynthesis Abnormality of metabolism/homeostasis;HP:0001939 12618959;27604308 False 3 100;0;0 8.460 True ENSG00000143815 ENSG00000143815 HGNC:6518 LCAT gene LCAT Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Fish-eye disease MIM#136120;Norum disease MIM#245900;Disorders of high density lipoprotein metabolism Abnormality of metabolism/homeostasis;HP:0001939 30720493;6624548 False 3 100;0;0 8.460 True ENSG00000213398 ENSG00000213398 HGNC:6522 LCT gene LCT Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Lactase deficiency, congenital MIM#223000;Other carbohydrate disorders Abnormality of metabolism/homeostasis;HP:0001939 9758622;27604308 False 3 100;0;0 8.460 True ENSG00000115850 ENSG00000115850 HGNC:6530 LDHA gene LDHA Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XI, MIM# 612933 Abnormality of metabolism/homeostasis;HP:0001939 2334430;1959923;8327147 False 3 100;0;0 8.460 True ENSG00000134333 ENSG00000134333 HGNC:6535 LDLR gene LDLR Royal Melbourne Hospital;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypercholesterolemia Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000130164 ENSG00000130164 HGNC:6547 LDLRAP1 gene LDLRAP1 Expert Review Green;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hypercholesterolemia, familial, 4, MIM# 603813 Abnormality of metabolism/homeostasis;HP:0001939 4351242 False 3 100;0;0 8.460 True ENSG00000157978 ENSG00000157978 HGNC:18640 LETM1 gene LETM1 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Abnormality of metabolism/homeostasis;HP:0001939 36055214 False 3 100;0;0 8.460 True ENSG00000168924 ENSG00000168924 HGNC:6556 LFNG gene LFNG Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 3, autosomal recessive, MIM# 609813 Abnormality of metabolism/homeostasis;HP:0001939 9690472;16385447;30531807;9690473 False 3 100;0;0 8.460 True ENSG00000106003 ENSG00000106003 HGNC:6560 LIAS gene LIAS Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000121897 ENSG00000121897 HGNC:16429 LIG3 gene LIG3 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 20 (MNGIE type), MIM# 619780 Abnormality of metabolism/homeostasis;HP:0001939 PMID: 33855352 False 3 100;0;0 8.460 True ENSG00000005156 ENSG00000005156 HGNC:6600 LIPA gene LIPA Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cholesteryl ester storage disease, MIM# 278000;Wolman disease, MIM# 278000;Lysosomal acid lipase deficiency, MONDO:0010204 Abnormality of metabolism/homeostasis;HP:0001939 11487567 False 3 100;0;0 8.460 True ENSG00000107798 ENSG00000107798 HGNC:6617 LIPA gene LIPA Royal Melbourne Hospital;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Wolman disease, Cholesterol ester storage disease Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000107798 ENSG00000107798 HGNC:6617 LIPC gene LIPC Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hepatic lipase deficiency MIM#614025;Inherited mixed hyperlipidaemias;hyperalphalipoproteinemia Abnormality of metabolism/homeostasis;HP:0001939 1671786;12777476;1883393;23219720;26423094;22464213 False 3 100;0;0 8.460 True ENSG00000166035 ENSG00000166035 HGNC:6619 LIPT1 gene LIPT1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Lipoyltransferase 1 deficiency, MIM#616299;Leigh-like presentation Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000144182 ENSG00000144182 HGNC:29569 LIPT2 gene LIPT2 Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000175536 ENSG00000175536 HGNC:37216 LMBRD1 gene LMBRD1 Expert Review Green;Literature;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblF type MIM#277380;Disorders of cobalamin absorption, transport and metabolism Abnormality of metabolism/homeostasis;HP:0001939 19136951;27604308 False 3 100;0;0 8.460 True ENSG00000168216 ENSG00000168216 HGNC:23038 LMBRD1 gene LMBRD1 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylmalonic aciduria and homocystinuria type cblF MONDO:0010183 Abnormality of metabolism/homeostasis;HP:0001939 20301503;19136951;32875039;20127417;21303734 False 3 100;0;0 8.460 True ENSG00000168216 ENSG00000168216 HGNC:23038 LMF1 gene LMF1 Royal Melbourne Hospital;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined lipase deficiency Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000103227 ENSG00000103227 HGNC:14154 LMNA gene LMNA NHS GMS;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules;Severe insulin resistance, partial lipodystrophy and diabetes;FPLD2;LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2;Lipodystrophy, familial partial, 2, 151660 Abnormality of metabolism/homeostasis;HP:0001939 24002959;26775134 False 3 100;0;0 8.460 False ENSG00000160789 ENSG00000160789 HGNC:6636 LONP1 gene LONP1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal CODAS syndrome, MIM#600373;Mitochondrial cytopathy Abnormality of metabolism/homeostasis;HP:0001939 31636596 False 3 100;0;0 8.460 True ENSG00000196365 ENSG00000196365 HGNC:9479 LPIN1 gene LPIN1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Myoglobinuria, acute recurrent, autosomal recessive, MIM# 268200 Abnormality of metabolism/homeostasis;HP:0001939 18817903;32549891;32522502;32410653 False 3 100;0;0 8.460 True ENSG00000134324 ENSG00000134324 HGNC:13345 LPL gene LPL Royal Melbourne Hospital;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Lipoprotein lipase deficiency, Hyperlipoproteinemia, Combined hyperlipidemia, familial Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000175445 ENSG00000175445 HGNC:6677 LRAT gene LRAT Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 14 Abnormality of metabolism/homeostasis;HP:0001939 11381255 False 3 0;0;0 8.460 False ENSG00000121207 ENSG00000121207 HGNC:6685 LRBA gene LRBA Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 8, with autoimmunity Abnormality of metabolism/homeostasis;HP:0001939 25468195;25479458;26206937;26745254;27057999 False 3 100;0;0 8.460 False ENSG00000198589 ENSG00000198589 HGNC:1742 LRPPRC gene LRPPRC Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000138095 ENSG00000138095 HGNC:15714 LYRM7 gene LYRM7 Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000186687 ENSG00000186687 HGNC:28072 MAGT1 gene MAGT1 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Congenital disorder of glycosylation, type Icc (MIM# 301031);Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853)" Abnormality of metabolism/homeostasis;HP:0001939 31036665;31714901 False 3 100;0;0 8.460 True ENSG00000102158 ENSG00000102158 HGNC:28880 MAN1B1 gene MAN1B1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 15, MIM#614202 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000177239 ENSG00000177239 HGNC:6823 MAN2B1 gene MAN2B1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha-, types I and II, MIM# 248500;MONDO:0009561 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000104774 ENSG00000104774 HGNC:6826 MANBA gene MANBA Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mannosidosis, beta, MIM# 248510;MONDO:0009562 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000109323 ENSG00000109323 HGNC:6831 MAOA gene MAOA Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Brunner syndrome, MIM# 300615 Abnormality of metabolism/homeostasis;HP:0001939 25807999;24169519 False 3 100;0;0 8.460 True ENSG00000189221 ENSG00000189221 HGNC:6833 MAT1A gene MAT1A Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850;Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850;Disorders of the metabolism of sulphur amino acids Abnormality of metabolism/homeostasis;HP:0001939 27604308;7560086 False 3 100;0;0 8.460 True ENSG00000151224 ENSG00000151224 HGNC:6903 MAT1A gene MAT1A Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methionine adenosyltransferase deficiency MONDO:0009607 Abnormality of metabolism/homeostasis;HP:0001939 9042912;11320206 False 3 100;0;0 8.460 True Other ENSG00000151224 ENSG00000151224 HGNC:6903 MCCC1 gene MCCC1 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950 Abnormality of metabolism/homeostasis;HP:0001939 29152456;31730530;27604308;11170888;36822454 False 3 100;0;0 8.460 True ENSG00000078070 ENSG00000078070 HGNC:6936 MCCC1 gene MCCC1 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200;Organic acidurias Abnormality of metabolism/homeostasis;HP:0001939 36822454;31730530 False 3 100;0;0 8.460 True ENSG00000078070 ENSG00000078070 HGNC:6936 MCCC2 gene MCCC2 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210;Organic acidurias Abnormality of metabolism/homeostasis;HP:0001939 27604308;11181649 False 3 100;0;0 8.460 True ENSG00000131844 ENSG00000131844 HGNC:6937 MCCC2 gene MCCC2 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950 Abnormality of metabolism/homeostasis;HP:0001939 29152456;31730530;27604308;11181649 False 3 100;0;0 8.460 True ENSG00000131844 ENSG00000131844 HGNC:6937 MCEE gene MCEE Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009615 Abnormality of metabolism/homeostasis;HP:0001939 16697227;17823972;27699154;29104221;30682498;31146325 False 3 100;0;0 8.460 True ENSG00000124370 ENSG00000124370 HGNC:16732 MCEE gene MCEE Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonyl-CoA epimerase deficiency MIM#251120;Organic acidurias Abnormality of metabolism/homeostasis;HP:0001939 27604308;16752391;32521958;31146325;32719376;30682498 False 3 100;0;0 8.460 True ENSG00000124370 ENSG00000124370 HGNC:16732 MCEE gene MCEE Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009615 Abnormality of metabolism/homeostasis;HP:0001939 20301409 False 3 100;0;0 8.460 True ENSG00000124370 ENSG00000124370 HGNC:16732 MCOLN1 gene MCOLN1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mucolipidosis IV, MIM# 252650;MONDO:0009653 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000090674 ENSG00000090674 HGNC:13356 MDH2 gene MDH2 Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000146701 ENSG00000146701 HGNC:6971 MECR gene MECR Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, MIM# 617282;MONDO:0015003 Abnormality of metabolism/homeostasis;HP:0001939 27817865;33401012;31137067;31070877 False 3 100;0;0 8.460 True ENSG00000116353 ENSG00000116353 HGNC:19691 MFF gene MFF Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000168958 ENSG00000168958 HGNC:24858 MFN2 gene MFN2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000116688 ENSG00000116688 HGNC:16877 MFSD8 gene MFSD8 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7, MIM# 610951;MONDO:0012588;Macular dystrophy with central cone involvement, MIM# 616170;MONDO:0014515 Abnormality of metabolism/homeostasis;HP:0001939 17564970;19201763;25227500 False 3 100;0;0 8.460 True ENSG00000164073 ENSG00000164073 HGNC:28486 MGAT2 gene MGAT2 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIa, MIM# 212066;MGAT2-CDG, MONDO:0008908 Abnormality of metabolism/homeostasis;HP:0001939 8808595;11228641;22105986;33044030;31420886 False 3 100;0;0 8.460 True ENSG00000168282 ENSG00000168282 HGNC:7045 MGME1 gene MGME1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 11, MIM# 615084 Abnormality of metabolism/homeostasis;HP:0001939 23313956;29572490;28711739 False 3 100;0;0 8.460 True ENSG00000125871 ENSG00000125871 HGNC:16205 MICU1 gene MICU1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Myopathy with extrapyramidal signs, MIM# 615673 Abnormality of metabolism/homeostasis;HP:0001939 24336167;29721912;32395406 False 3 100;0;0 8.460 True ENSG00000107745 ENSG00000107745 HGNC:1530 MIPEP gene MIPEP Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Combined oxidative phosphorylation deficiency 31, MIM# 617228" Abnormality of metabolism/homeostasis;HP:0001939 27799064 False 3 100;0;0 8.460 True ENSG00000027001 ENSG00000027001 HGNC:7104 MLYCD gene MLYCD Expert Review Green;Genomics England PanelApp;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Malonyl-CoA decarboxylase deficiency 248360;malonic aciduria" Abnormality of metabolism/homeostasis;HP:0001939 10455107;10417274;12955715 False 3 100;0;0 8.460 False ENSG00000103150 ENSG00000103150 HGNC:7150 MLYCD gene MLYCD Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Malonyl-CoA decarboxylase deficiency, MIM# 248360 Abnormality of metabolism/homeostasis;HP:0001939 12955715 False 3 100;0;0 8.460 True ENSG00000103150 ENSG00000103150 HGNC:7150 MMAA gene MMAA Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of cobalamin metabolism;methylmalonic aciduria, cblA type MONDO:0009613 Abnormality of metabolism/homeostasis;HP:0001939 12438653;15523652 False 3 0;0;0 8.460 False ENSG00000151611 ENSG00000151611 HGNC:18871 MMAA gene MMAA Expert Review Green;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, vitamin B12-responsive 251100 Abnormality of metabolism/homeostasis;HP:0001939 15523652;12438653 False 3 100;0;0 8.460 False ENSG00000151611 ENSG00000151611 HGNC:18871 MMAA gene MMAA Expert Review Green;Literature;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylmalonic aciduria, cblA type MONDO:0009613 Abnormality of metabolism/homeostasis;HP:0001939 29152456 False 3 100;0;0 8.460 True ENSG00000151611 ENSG00000151611 HGNC:18871 MMAB gene MMAB Expert Review Green;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000139428 ENSG00000139428 HGNC:19331 MMAB gene MMAB Expert Review Green;Literature;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylmalonic aciduria, cblB type MONDO:0009614 Abnormality of metabolism/homeostasis;HP:0001939 29152456 False 3 100;0;0 8.460 True ENSG00000139428 ENSG00000139428 HGNC:19331 MMAB gene MMAB Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylmalonic aciduria, cblB type MONDO:0009614 Abnormality of metabolism/homeostasis;HP:0001939 12471062;20556797;35712814;24813872 False 3 100;0;0 8.460 True ENSG00000139428 ENSG00000139428 HGNC:19331 MMACHC gene MMACHC Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylmalonic aciduria and homocystinuria type cblC MONDO:0010184 Abnormality of metabolism/homeostasis;HP:0001939 26149271;28693988;18164228;16963011;30157807;16311595;23580368 False 3 100;0;0 8.460 True ENSG00000132763 ENSG00000132763 HGNC:24525 MMACHC gene MMACHC Expert Review Green;Literature;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type MIM#277400;Disorders of cobalamin absorption, transport and metabolism Abnormality of metabolism/homeostasis;HP:0001939 27604308;16311595 False 3 100;0;0 8.460 True ENSG00000132763 ENSG00000132763 HGNC:24525 MMADHC gene MMADHC Expert Review Green;Literature;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylmalonic aciduria and homocystinuria type cblD MONDO:0010185 Abnormality of metabolism/homeostasis;HP:0001939 29152456;27604308;18385497 False 3 100;0;0 8.460 True ENSG00000168288 ENSG00000168288 HGNC:25221 MMADHC gene MMADHC Expert Review Green;Literature;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria, cblD type, variant 1 MIM#277410;Methylmalonic aciduria and homocystinuria, cblD type MIM#277410;Methylmalonic aciduria, cblD type, variant 2 MIM#277410;Disorders of cobalamin absorption, transport and metabolism Abnormality of metabolism/homeostasis;HP:0001939 27604308;18385497 False 3 100;0;0 8.460 True ENSG00000168288 ENSG00000168288 HGNC:25221 MNX1 gene MNX1 Expert Review Green;UKGTN Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related Abnormality of metabolism/homeostasis;HP:0001939 24411943;23562494;26534984 False 3 100;0;0 8.460 True ENSG00000130675 ENSG00000130675 HGNC:4979 MOCOS gene MOCOS Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of molybdenum cofactor metabolism;xanthinuria type II MONDO:0011346 Abnormality of metabolism/homeostasis;HP:0001939 25370766, 17368066, 34356852 False 3 0;0;0 8.460 False ENSG00000075643 ENSG00000075643 HGNC:18234 MOCS1 gene MOCS1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of molybdenum cofactor metabolism;sulfite oxidase deficiency due to molybdenum cofactor deficiency type A MONDO:0009643 Abnormality of metabolism/homeostasis;HP:0001939 27604308, 9731530 False 3 0;0;0 8.460 False ENSG00000124615 ENSG00000124615 HGNC:7190 MOCS1 gene MOCS1 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency A MIM#252150;Disorders of molybdenum cofactor metabolism Abnormality of metabolism/homeostasis;HP:0001939 27604308;9731530 False 3 100;0;0 8.460 True ENSG00000124615 ENSG00000124615 HGNC:7190 MOCS2 gene MOCS2 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal sulfite oxidase deficiency due to molybdenum cofactor deficiency type B MONDO:0009644;Disorders of molybdenum cofactor metabolism Abnormality of metabolism/homeostasis;HP:0001939 27604308, 10053004 False 3 0;0;0 8.460 False ENSG00000164172 ENSG00000164172 HGNC:7193 MOCS2 gene MOCS2 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency B MIM#252160;Disorders of molybdenum cofactor metabolism Abnormality of metabolism/homeostasis;HP:0001939 27604308;10053004 False 3 100;0;0 8.460 True ENSG00000164172 ENSG00000164172 HGNC:7193 MOGS gene MOGS Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIb, MIM# 606056 Abnormality of metabolism/homeostasis;HP:0001939 31925597;30587846;33058492 False 3 100;0;0 8.460 True ENSG00000115275 ENSG00000115275 HGNC:24862 MORC2 gene MORC2 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy, MIM# 619090;Charcot-Marie-Tooth disease, axonal, type 2Z, MIM# 616688. Abnormality of metabolism/homeostasis;HP:0001939 PMID: 32693025 False 3 50;0;50 8.460 True ENSG00000133422 ENSG00000133422 HGNC:23573 MPC1 gene MPC1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial pyruvate carrier deficiency, MIM# 614741 Abnormality of metabolism/homeostasis;HP:0001939 22628558;34873722 False 3 100;0;0 8.460 True ENSG00000060762 ENSG00000060762 HGNC:21606 MPDU1 gene MPDU1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type If, MIM# 609180;MPDU1-CDG, MONDO:0012211 Abnormality of metabolism/homeostasis;HP:0001939 11733564;11733556;31741824;29721919 False 3 100;0;0 8.460 True ENSG00000129255 ENSG00000129255 HGNC:7207 MPI gene MPI Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ib, MIM# 602579;MPI-CDG MONDO:0011257 Abnormality of metabolism/homeostasis;HP:0001939 12414827;9585601;10980531;33098580;33204592;32905087;32266963;30242110 False 3 100;0;0 8.460 True ENSG00000178802 ENSG00000178802 HGNC:7216 MPV17 gene MPV17 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000115204 ENSG00000115204 HGNC:7224 MRM2 gene MRM2 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial DNA depletion syndrome 17, MIM# 618567" Abnormality of metabolism/homeostasis;HP:0001939 28973171;36002240 False 3 100;0;0 8.460 True ENSG00000122687 ENSG00000122687 HGNC:16352 MRPL3 gene MRPL3 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 9;OMIM #614582 Abnormality of metabolism/homeostasis;HP:0001939 27815843;21786366 False 3 100;0;0 8.460 True ENSG00000114686 ENSG00000114686 HGNC:10379 MRPL39 gene MRPL39 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency-59 (COXPD59), MIM#620646 Abnormality of metabolism/homeostasis;HP:0001939 PMID: 37133451 False 3 100;0;0 8.460 True ENSG00000154719 ENSG00000154719 HGNC:14027 MRPL44 gene MRPL44 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 16, MIM# 615395 Abnormality of metabolism/homeostasis;HP:0001939 23315540;25797485 False 3 100;0;0 8.460 True ENSG00000135900 ENSG00000135900 HGNC:16650 MRPL49 gene MRPL49 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970, MRPL49-related Abnormality of metabolism/homeostasis;HP:0001939 39417135 False 3 100;0;0 8.460 True ENSG00000149792 ENSG00000149792 HGNC:1176 MRPS2 gene MRPS2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 36, MIM# 617950 Abnormality of metabolism/homeostasis;HP:0001939 29576219;34991560 False 3 100;0;0 8.460 True ENSG00000122140 ENSG00000122140 HGNC:14495 MRPS22 gene MRPS22 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 5, MIM# 611719 Abnormality of metabolism/homeostasis;HP:0001939 17873122;25663021;28752220 False 3 100;0;0 8.460 True ENSG00000175110 ENSG00000175110 HGNC:14508 MRPS23 gene MRPS23 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hepatic disease;Combined respiratory chain complex deficiencies;Cardiomyopathy;Tubulopathy;Lactic acidosis;Structural brain abnormalities;Combined oxidative phosphorylation deficiency 46, MIM618952 Abnormality of metabolism/homeostasis;HP:0001939 26741492;17873122;25663021;28752220 False 3 100;0;0 8.460 True ENSG00000181610 ENSG00000181610 HGNC:14509 MRPS34 gene MRPS34 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 32, MIM# 617664 Abnormality of metabolism/homeostasis;HP:0001939 28777931 False 3 100;0;0 8.460 True ENSG00000074071 ENSG00000074071 HGNC:16618 MSMO1 gene MSMO1 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834;Disorders of the metabolism of sterols;MONDO:0014793 Abnormality of metabolism/homeostasis;HP:0001939 27604308;21285510;24144731;33161406;28673550 False 3 100;0;0 8.460 True ENSG00000052802 ENSG00000052802 HGNC:10545 MSTO1 gene MSTO1 Expert list;Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Myopathy, mitochondrial, and ataxia, MIM# 617675" Abnormality of metabolism/homeostasis;HP:0001939 28554942;28544275;31604776;31463572;31130378;30684668;29339779 False 3 100;0;0 8.460 True ENSG00000125459 ENSG00000125459 HGNC:29678 MT-ATP6 gene MT-ATP6 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Mitochondrial complex V (ATP synthase) deficiency Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000198899 ENSG00000198899 HGNC:7414 MT-ATP8 gene MT-ATP8 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000228253 ENSG00000228253 HGNC:7415 MT-CO1 gene MT-CO1 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Leber's optic atrophy;Sideroblastic anaemia;Cytochrome c oxidase deficiency;Myoglobinuria Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000198804 ENSG00000198804 HGNC:7419 MT-CO2 gene MT-CO2 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Cytochrome c oxidase deficiency Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000198712 ENSG00000198712 HGNC:7421 MT-CO3 gene MT-CO3 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Leigh syndrome;Leigh-like syndrome;Myopathy;Encephalopathy and myopathy Abnormality of metabolism/homeostasis;HP:0001939 20525945;9634511;11063732;12414820 False 3 100;0;0 8.460 True ENSG00000198938 ENSG00000198938 HGNC:7422 MT-CYB gene MT-CYB Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Leber's optic atrophy;Encephalomyopathy;Cardiomyopathy Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000198727 ENSG00000198727 HGNC:7427 MTFMT gene MTFMT Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 15, MIM# 614947;Mitochondrial complex I deficiency, nuclear type 27, MIM# 618248 Abnormality of metabolism/homeostasis;HP:0001939 21907147;23499752;24461907;22499348 False 3 100;0;0 8.460 True ENSG00000103707 ENSG00000103707 HGNC:29666 MTHFD1 gene MTHFD1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia MONDO:0060611;Disorders of folate metabolism Abnormality of metabolism/homeostasis;HP:0001939 32414565;19033438 False 3 0;0;0 8.460 False ENSG00000100714 ENSG00000100714 HGNC:7432 MTHFR gene MTHFR Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353;Disorders of folate metabolism Abnormality of metabolism/homeostasis;HP:0001939 7920641;26872964 False 3 0;0;0 8.460 False ENSG00000177000 ENSG00000177000 HGNC:7436 MTHFR gene MTHFR Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353 Abnormality of metabolism/homeostasis;HP:0001939 26872964 False 3 100;0;0 8.460 True ENSG00000177000 ENSG00000177000 HGNC:7436 MTHFR gene MTHFR Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria due to MTHFR deficiency MIM#236250;Disorders of folate metabolism and transport Abnormality of metabolism/homeostasis;HP:0001939 27604308;7920641 False 3 100;0;0 8.460 True ENSG00000177000 ENSG00000177000 HGNC:7436 MT-ND1 gene MT-ND1 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Mitochondrial complex I deficiency;Leber's optic neuropathy;Deafness;Dystonia Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000198888 ENSG00000198888 HGNC:7455 MT-ND2 gene MT-ND2 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Mitochondrial complex I deficiency;Leber's optic neuropathy Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000198763 ENSG00000198763 HGNC:7456 MT-ND3 gene MT-ND3 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Complex I deficiency Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000198840 ENSG00000198840 HGNC:7458 MT-ND4 gene MT-ND4 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Mitochondrial complex I deficiency;Leber's optic neuropathy;Dystonia Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000198886 ENSG00000198886 HGNC:7459 MT-ND4L gene MT-ND4L Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Leber's optic atrophy Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000212907 ENSG00000212907 HGNC:7460 MT-ND5 gene MT-ND5 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Mitochondrial complex I deficiency;Leber's optic neuropathy;MERFF Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000198786 ENSG00000198786 HGNC:7461 MT-ND6 gene MT-ND6 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Mitochondrial cardiomyopathy complex I deficiency;Leber's optic neuropathy;MELAS;Dystonia;Striatal necrosis, bilateral Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000198695 ENSG00000198695 HGNC:7462 MTO1 gene MTO1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 10, OMIM #614702 Abnormality of metabolism/homeostasis;HP:0001939 26061759;29331171;23929671 False 3 100;0;0 8.460 True ENSG00000135297 ENSG00000135297 HGNC:19261 MTPAP gene MTPAP Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 4, autosomal recessive 613672;Lethal encephalopathy Abnormality of metabolism/homeostasis;HP:0001939 20970105;25008111;26319014;31779033 False 3 50;50;0 8.460 True ENSG00000107951 ENSG00000107951 HGNC:25532 MTR gene MTR Expert Review Green;Literature;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anemia, cblG complementation type MIM#250940;Organic aciduria Abnormality of metabolism/homeostasis;HP:0001939 8968735;27604308 False 3 100;0;0 8.460 True ENSG00000116984 ENSG00000116984 HGNC:7468 MTR gene MTR Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylcobalamin deficiency type cblG MONDO:0009609 Abnormality of metabolism/homeostasis;HP:0001939 12068375;30651581;31951343 False 3 100;0;0 8.460 True ENSG00000116984 ENSG00000116984 HGNC:7468 MT-RNR1 gene MT-RNR1 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Deafness;Cardiomyopathy Abnormality of metabolism/homeostasis;HP:0001939 20301595 False 3 100;0;0 8.460 True ENSG00000211459 ENSG00000211459 HGNC:7470 MTRR gene MTRR Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anemia, cbl E type MIM#236270;Disorders of the metabolism of sulphur amino acids Abnormality of metabolism/homeostasis;HP:0001939 27604308;9501215 False 3 100;0;0 8.460 True ENSG00000124275 ENSG00000124275 HGNC:7473 MTRR gene MTRR Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylcobalamin deficiency type cblE MONDO:0009354 Abnormality of metabolism/homeostasis;HP:0001939 10484769;12555939;15714522;17369066 False 3 100;0;0 8.460 True ENSG00000124275 ENSG00000124275 HGNC:7473 MTRR gene MTRR Expert Review Green;Literature;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anemia, cbl E type MIM#236270;Disorders of the metabolism of sulphur amino acids Abnormality of metabolism/homeostasis;HP:0001939 27604308;9501215 False 3 100;0;0 8.460 True ENSG00000124275 ENSG00000124275 HGNC:7473 MT-TA gene MT-TA Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Mitochondrial myopathy Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000210127 ENSG00000210127 HGNC:7475 MT-TC gene MT-TC Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL MELAS;Dystonia Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000210140 ENSG00000210140 HGNC:7477 MT-TD gene MT-TD Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Mitochondrial myopathy Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000210154 ENSG00000210154 HGNC:7478 MT-TE gene MT-TE Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Mitochondrial myopathy;Deafness;Diabetes Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000210194 ENSG00000210194 HGNC:7479 MT-TF gene MT-TF Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL MELAS;MERFF;Encephalopathy;Myopathy Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000210049 ENSG00000210049 HGNC:7481 MT-TG gene MT-TG Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Cardiomyopathy Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000210164 ENSG00000210164 HGNC:7486 MT-TH gene MT-TH Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Dilated cardiomyopathy;Retinopathy;Deafness;MELAS;MERFF Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000210176 ENSG00000210176 HGNC:7487 MT-TI gene MT-TI Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Mitochondrial myopathy;Encephalopathy Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000210100 ENSG00000210100 HGNC:7488 MT-TK gene MT-TK Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL MERRF;Encephalopathy;Deafness;Cardiomyopathy Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000210156 ENSG00000210156 HGNC:7489 MT-TL1 gene MT-TL1 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL MELAS Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000209082 ENSG00000209082 HGNC:7490 MT-TL2 gene MT-TL2 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Myopathy;Cardiomyopathy;Encephalomyopathy Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000210191 ENSG00000210191 HGNC:7491 MT-TM gene MT-TM Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Mitochondrial myopathy Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000210112 ENSG00000210112 HGNC:7492 MT-TN gene MT-TN Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Mitochondrial myopathy Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000210135 ENSG00000210135 HGNC:7493 MTTP gene MTTP Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinemia MIM#200100;Inherited hypolipidaemias Abnormality of metabolism/homeostasis;HP:0001939 27604308;8533758;30720493 False 3 100;0;0 8.460 True ENSG00000138823 ENSG00000138823 HGNC:7467 MT-TP gene MT-TP Expert Review Red;Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL MERRF;myopathy Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000210196 ENSG00000210196 HGNC:7494 MT-TQ gene MT-TQ Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL MELAS;deafness;mitochondrial myopathy Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000210107 ENSG00000210107 HGNC:7495 MT-TR gene MT-TR Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Encephalomyopathy Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000210174 ENSG00000210174 HGNC:7496 MT-TS1 gene MT-TS1 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL MERRF;MELAS;Deafness Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000210151 ENSG00000210151 HGNC:7497 MT-TS2 gene MT-TS2 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL MERRF;MELAS;Cerebellar ataxia Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000210184 ENSG00000210184 HGNC:7498 MT-TV gene MT-TV Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Ataxia;Seizures;Deafness Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000210077 ENSG00000210077 HGNC:7500 MT-TW gene MT-TW Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Encephalomyopathy Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000210117 ENSG00000210117 HGNC:7501 MT-TY gene MT-TY Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Progressive external ophthalmoplegia;Cardiomyopathy;Myopathy Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000210144 ENSG00000210144 HGNC:7502 MUT gene MUT Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612 Abnormality of metabolism/homeostasis;HP:0001939 20301409 False 3 100;0;0 8.460 True ENSG00000146085 ENSG00000146085 HGNC:7526 MUT gene MUT Expert Review Green;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, mut(0) type 251000 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000146085 ENSG00000146085 HGNC:7526 MUT gene MUT Expert Review Green;Literature;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612 Abnormality of metabolism/homeostasis;HP:0001939 29152456;1977311;11528502;12948746 False 3 100;0;0 8.460 True ENSG00000146085 ENSG00000146085 HGNC:7526 MVK gene MVK Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mevalonic aciduria MIM#610377;Disorders of sterol biosynthesis Abnormality of metabolism/homeostasis;HP:0001939 27604308;1377680 False 3 100;0;0 8.460 True ENSG00000110921 ENSG00000110921 HGNC:7530 NADK2 gene NADK2 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "2,4-dienoyl-CoA reductase deficiency, MIM# 616034" Abnormality of metabolism/homeostasis;HP:0001939 24847004;27940755;23212377;28923496 False 3 100;0;0 8.460 True ENSG00000152620 ENSG00000152620 HGNC:26404 NADK2 gene NADK2 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of niacin and NAD metabolism;2,4-dienoyl-CoA reductase deficiency, MIM# 616034 Abnormality of metabolism/homeostasis;HP:0001939 24847004, 27940755, 23212377, 28923496, 29388319 False 3 0;0;0 8.460 False ENSG00000152620 ENSG00000152620 HGNC:26404 NADK2 gene NADK2 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "2,4-dienoyl-CoA reductase deficiency, MIM# 616034" Abnormality of metabolism/homeostasis;HP:0001939 24847004;29388319;27940755 False 3 100;0;0 8.460 True ENSG00000152620 ENSG00000152620 HGNC:26404 NAGA gene NAGA Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Kanzaki disease, MIM# 609242;Schindler disease, type I and type II 609241;alpha-N-acetylgalactosaminidase deficiency MONDO:0017779 Abnormality of metabolism/homeostasis;HP:0001939 11313741;31468281;15619430;8782044 False 3 100;0;0 8.460 True ENSG00000198951 ENSG00000198951 HGNC:7631 NAGLU gene NAGLU Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920;MONDO:0009656;Charcot-Marie-Tooth disease, axonal, type 2V MIM#616491;MONDO:0014665 Abnormality of metabolism/homeostasis;HP:0001939 25818867;8650226 False 3 100;0;0 8.460 True ENSG00000108784 ENSG00000108784 HGNC:7632 NAGS gene NAGS Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "N-acetylglutamate synthase deficiency 237310" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000161653 ENSG00000161653 HGNC:17996 NAGS gene NAGS Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:0009377 Abnormality of metabolism/homeostasis;HP:0001939 15714518;27037498;22503289 False 3 100;0;0 8.460 True ENSG00000161653 ENSG00000161653 HGNC:17996 NARS2 gene NARS2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 24 - MIM#616239;Deafness, autosomal recessive 94 - MIM#618434 Abnormality of metabolism/homeostasis;HP:0001939 25385316;25807530;30327238;28077841 False 3 100;0;0 8.460 True ENSG00000137513 ENSG00000137513 HGNC:26274 NAXD gene NAXD Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of niacin and NAD metabolism;Mitochondrial disease MONDO:0044970 Abnormality of metabolism/homeostasis;HP:0001939 30576410 False 3 0;0;0 8.460 False ENSG00000213995 ENSG00000213995 HGNC:25576 NAXD gene NAXD Expert Review Green;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321 Abnormality of metabolism/homeostasis;HP:0001939 30576410 False 3 100;0;0 8.460 True ENSG00000213995 ENSG00000213995 HGNC:25576 NAXE gene NAXE Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Apolipoprotein A-I binding protein deficiency;Disorders of niacin and NAD metabolism Abnormality of metabolism/homeostasis;HP:0001939 27122014, 27616477, 31758406 False 3 0;0;0 8.460 False ENSG00000163382 ENSG00000163382 HGNC:18453 NAXE gene NAXE Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186 Abnormality of metabolism/homeostasis;HP:0001939 27122014;27616477;31758406 False 3 100;0;0 8.460 True ENSG00000163382 ENSG00000163382 HGNC:18453 NDUFA1 gene NDUFA1 Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA10 gene NDUFA10 Expert Review Green;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 22 - MIM#618243 Abnormality of metabolism/homeostasis;HP:0001939 21150889;26741492;28247337 False 3 100;0;0 8.460 True ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA12 gene NDUFA12 Expert Review Green;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 23 618244 Abnormality of metabolism/homeostasis;HP:0001939 21617257;33715266 False 3 50;0;50 8.460 True ENSG00000184752 ENSG00000184752 HGNC:23987 NDUFA13 gene NDUFA13 Expert Review Green;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 28, MIM# 618249 Abnormality of metabolism/homeostasis;HP:0001939 25901006;32722639 False 3 50;50;0 8.460 True ENSG00000186010 ENSG00000186010 HGNC:17194 NDUFA2 gene NDUFA2 Expert Review Green;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 13 - MIM#618235 Abnormality of metabolism/homeostasis;HP:0001939 28857146;32154054;18513682 False 3 100;0;0 8.460 True ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFA4 gene NDUFA4 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome;Complex IV deficiency Abnormality of metabolism/homeostasis;HP:0001939 30361421;28988874;23746447 False 3 100;0;0 8.460 True ENSG00000189043 ENSG00000189043 HGNC:7687 NDUFA6 gene NDUFA6 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial complex I deficiency, nuclear type 33, MIM# 618253" Abnormality of metabolism/homeostasis;HP:0001939 30245030 False 3 100;0;0 8.460 True ENSG00000184983 ENSG00000184983 HGNC:7690 NDUFA9 gene NDUFA9 Expert Review Green;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 26 Abnormality of metabolism/homeostasis;HP:0001939 28671271 False 3 100;0;0 8.460 True ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFAF1 gene NDUFAF1 Expert Review Green;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 11 - MIM#618234 Abnormality of metabolism/homeostasis;HP:0001939 17557076;21931170;16218961;24963768;34975718 False 3 100;0;0 8.460 True ENSG00000137806 ENSG00000137806 HGNC:18828 NDUFAF2 gene NDUFAF2 Expert Review Green;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 10 - MIM#618233 Abnormality of metabolism/homeostasis;HP:0001939 33528536;34364746;16200211;19384974;20571988 False 3 100;0;0 8.460 True ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF3 gene NDUFAF3 Expert Review Green;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 18 - MIM#618240 Abnormality of metabolism/homeostasis;HP:0001939 27986404;29344937;19463981 False 3 100;0;0 8.460 True ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF4 gene NDUFAF4 Expert Review Green;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 15 - MIM#618237 Abnormality of metabolism/homeostasis;HP:0001939 32949790;28853723 False 3 100;0;0 8.460 True ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFAF5 gene NDUFAF5 Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFAF6 gene NDUFAF6 Expert Review Green;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 17 (MIM#618239) Abnormality of metabolism/homeostasis;HP:0001939 30642748 False 3 100;0;0 8.460 True ENSG00000156170 ENSG00000156170 HGNC:28625 NDUFAF8 gene NDUFAF8 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Leigh syndrome Abnormality of metabolism/homeostasis;HP:0001939 31866046 False 3 100;0;0 8.460 True ENSG00000224877 ENSG00000224877 HGNC:33551 NDUFB10 gene NDUFB10 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal fatal infantile lactic acidosis;cardiomyopathy;Mitochondrial complex I deficiency nuclear type 35 (MC1DN35), MIM#619003 Abnormality of metabolism/homeostasis;HP:0001939 28040730;32025618;33169436 False 3 50;50;0 8.460 True ENSG00000140990 ENSG00000140990 HGNC:7696 NDUFB11 gene NDUFB11 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship 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) 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 Abnormality of metabolism/homeostasis;HP:0001939 28050600;27488349;30423443;27488349 False 3 100;0;0 8.460 True ENSG00000147123 ENSG00000147123 HGNC:20372 NDUFB3 gene NDUFB3 Expert Review Green;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 25, MIM# 618246;MONDO:0032629 Abnormality of metabolism/homeostasis;HP:0001939 22499348;27091925 False 3 100;0;0 8.460 True ENSG00000119013 ENSG00000119013 HGNC:7698 NDUFB8 gene NDUFB8 Expert Review Green;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 32 - MIM#618252 Abnormality of metabolism/homeostasis;HP:0001939 29429571 False 3 100;0;0 8.460 True ENSG00000166136 ENSG00000166136 HGNC:7703 NDUFS1 gene NDUFS1 Expert Review Green;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 5 - MIM#618226 Abnormality of metabolism/homeostasis;HP:0001939 33751534;24952175;20382551;21203893;20797884;15824269;25615419;11349233;22399432 False 3 100;0;0 8.460 True ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 Expert Review Green;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 6 - MIM#618228 Abnormality of metabolism/homeostasis;HP:0001939 28031252;31411514;22036843;20819849;11220739;23266820;31411514 False 3 100;0;0 8.460 True ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS3 gene NDUFS3 Expert Review Green;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 8 - MIM#618230 Abnormality of metabolism/homeostasis;HP:0001939 22499348;30140060;14729820;33097395 False 3 100;0;0 8.460 True ENSG00000213619 ENSG00000213619 HGNC:7710 NDUFS4 gene NDUFS4 Expert Review Green;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 1, 252010;Leigh syndrome, MIM#252010 Abnormality of metabolism/homeostasis;HP:0001939 10944442;27079373;19107570;12616398 False 3 100;0;0 8.460 True ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS6 gene NDUFS6 Expert Review Green;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 9 - MIM#618232 Abnormality of metabolism/homeostasis;HP:0001939 15372108;19259137;30948790 False 3 100;0;0 8.460 True ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFS7 gene NDUFS7 Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000167792 ENSG00000167792 HGNC:7716 NDUFV2 gene NDUFV2 Expert Review Green;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 7 (MIM#618229) Abnormality of metabolism/homeostasis;HP:0001939 12754703;19167255;26008862;30770271;33811136;34405929 False 3 67;33;0 8.460 True ENSG00000178127 ENSG00000178127 HGNC:7717 NEU1 gene NEU1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Sialidosis, type I and type II, MIM# 256550;MONDO:0009738 Abnormality of metabolism/homeostasis;HP:0001939 8985184;9054950;11063730 False 3 100;0;0 8.460 True ENSG00000204386 ENSG00000204386 HGNC:7758 NEUROD1 gene NEUROD1 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal maturity-onset diabetes of the young type 6 MONDO:0011668 Abnormality of metabolism/homeostasis;HP:0001939 20573748;10545951;26773576;26669242 False 3 100;0;0 8.460 True ENSG00000162992 ENSG00000162992 HGNC:7762 NEUROG3 gene NEUROG3 Expert Review Green;UKGTN Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal congenital malabsorptive diarrhea 4 MONDO:0012479 Abnormality of metabolism/homeostasis;HP:0001939 25650326;26288179 False 3 100;0;0 8.460 True ENSG00000122859 ENSG00000122859 HGNC:13806 NFE2L2 gene NFE2L2 Expert Review Green;Other Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, developmental delay, and hypohomocysteinemia MONDO:0060591;Disorders of glutathione metabolism Abnormality of metabolism/homeostasis;HP:0001939 29018201 False 3 100;0;0 8.460 True ENSG00000116044 ENSG00000116044 HGNC:7782 NFS1 gene NFS1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 52, MIM#619386;Complex II/III deficiency;multisystem organ failure Abnormality of metabolism/homeostasis;HP:0001939 24498631;33457206 False 3 50;0;50 8.460 True ENSG00000244005 ENSG00000244005 HGNC:15910 NFU1 gene NFU1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711 Abnormality of metabolism/homeostasis;HP:0001939 21944046;22077971;32747156;29441221 False 3 100;0;0 8.460 True ENSG00000169599 ENSG00000169599 HGNC:16287 NGLY1 gene NGLY1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of deglycosylation, MIM# 615273;alacrima, movement disorder, microcephaly, abnormal LFTs Abnormality of metabolism/homeostasis;HP:0001939 24651605;27388694;32259258;29550355 False 3 100;0;0 8.460 True ENSG00000151092 ENSG00000151092 HGNC:17646 NHLRC1 gene NHLRC1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora) 254780 Abnormality of metabolism/homeostasis;HP:0001939 21505799;12958597 False 3 100;0;0 8.460 True ENSG00000187566 ENSG00000187566 HGNC:21576 NKX2-2 gene NKX2-2 Expert Review Green;UKGTN Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Syndromic neonatal diabetes, with severe developmental delay, hypotonia, cortical blindness, hearing impairment Abnormality of metabolism/homeostasis;HP:0001939 24411943;9584121 False 3 100;0;0 8.460 True ENSG00000125820 ENSG00000125820 HGNC:7835 NMNAT1 gene NMNAT1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of niacin and NAD metabolism;Leber congenital amaurosis 9 MONDO:0012056 Abnormality of metabolism/homeostasis;HP:0001939 32533184 False 3 0;0;0 8.460 False ENSG00000173614 ENSG00000173614 HGNC:17877 NNT gene NNT Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of niacin and NAD metabolism;glucocorticoid deficiency 4 MONDO:0013874 Abnormality of metabolism/homeostasis;HP:0001939 26309815, 22634753 False 3 0;0;0 8.460 False ENSG00000112992 ENSG00000112992 HGNC:7863 NPC1 gene NPC1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type C1 and type D, MIM# 257220;MONDO:0009757 Abnormality of metabolism/homeostasis;HP:0001939 9211849;11333381 False 3 100;0;0 8.460 True ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Niemann-pick disease, type C2, MIM# 607625;MONDO:0011873 Abnormality of metabolism/homeostasis;HP:0001939 11125141;17470133 False 3 100;0;0 8.460 True ENSG00000119655 ENSG00000119655 HGNC:14537 NR1H4 gene NR1H4 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of bile acid metabolism;cholestasis, progressive familial intrahepatic, 5 MONDO:0014884 Abnormality of metabolism/homeostasis;HP:0001939 26888176, 32443034 False 3 0;0;0 8.460 False ENSG00000012504 ENSG00000012504 HGNC:7967 NSDHL gene NSDHL Expert Review Green;NHS GMS 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) CHILD syndrome MIM#308050;Disorders of sterol biosynthesis Abnormality of metabolism/homeostasis;HP:0001939 27604308;10710235 False 3 100;0;0 8.460 True ENSG00000147383 ENSG00000147383 HGNC:13398 NT5C3A gene NT5C3A Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Anemia, hemolytic, due to UMPH1 deficiency MIM#266120;disorder of pyrimidine metabolism Abnormality of metabolism/homeostasis;HP:0001939 11369620;11369620 False 3 100;0;0 8.460 True ENSG00000122643 ENSG00000122643 HGNC:17820 NT5C3A gene NT5C3A Expert Review Green;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal disorder of pyrimidine metabolism;Anemia, hemolytic, due to UMPH1 deficiency MIM#266120 Abnormality of metabolism/homeostasis;HP:0001939 11369620 False 3 100;0;0 8.460 False ENSG00000122643 ENSG00000122643 HGNC:17820 NT5E gene NT5E Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of ectonucleotide and nucleic acid metabolism;hereditary arterial and articular multiple calcification syndrome MONDO:0008895 Abnormality of metabolism/homeostasis;HP:0001939 21288095 False 3 100;0;0 8.460 False ENSG00000135318 ENSG00000135318 HGNC:8021 NUBPL gene NUBPL Expert Review Green;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 21 - MIM#618242 Abnormality of metabolism/homeostasis;HP:0001939 20818383;32518176;23553477;31917109;32518176;31787496;30897263;22826544 False 3 100;0;0 8.460 True ENSG00000151413 ENSG00000151413 HGNC:20278 OAS1 gene OAS1 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Disorders of ectonucleotide and nucleic acid metabolism;pulmonary alveolar proteinosis with hypogammaglobulinemia MONDO:0020840 Abnormality of metabolism/homeostasis;HP:0001939 29455859;34145065 False 3 100;0;0 8.460 False ENSG00000089127 ENSG00000089127 HGNC:8086 OAT gene OAT Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870 Abnormality of metabolism/homeostasis;HP:0001939 33068755;1618792;2220818;3339136;3417397;2916581;1737786;33463379 False 3 100;0;0 8.460 True ENSG00000065154 ENSG00000065154 HGNC:8091 OAT gene OAT Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal ornithine aminotransferase deficiency MONDO:0009796 Abnormality of metabolism/homeostasis;HP:0001939 609808;23076989;24429551;25264521 False 3 100;0;0 8.460 True ENSG00000065154 ENSG00000065154 HGNC:8091 OGDH gene OGDH Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Oxoglutarate dehydrogenase deficiency, MIM# 203740;Developmental delay;ataxia;seizure;raised lactate Abnormality of metabolism/homeostasis;HP:0001939 32383294 False 3 50;50;0 8.460 True ENSG00000105953 ENSG00000105953 HGNC:8124 OGT gene OGT Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Mental retardation, X-linked 106, MIM# 300997" Abnormality of metabolism/homeostasis;HP:0001939 28302723;28584052;31296563;31627256;29769320;29606577 False 3 100;0;0 8.460 True ENSG00000147162 ENSG00000147162 HGNC:8127 ONECUT1 gene ONECUT1 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Syndromic diabetes;Neonatal diabetes mellitus MONDO:0016391 Abnormality of metabolism/homeostasis;HP:0001939 37639628;34663987;10825208 False 3 50;50;0 8.460 True ENSG00000169856 ENSG00000169856 HGNC:8138 OPA1 gene OPA1 Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR;Optic atrophy 3 with cataract (MIM#165300), AD Abnormality of metabolism/homeostasis;HP:0001939 25159689;31119193;31928268 False 3 100;0;0 8.460 True ENSG00000125741 ENSG00000125741 HGNC:8142 OPA3 gene OPA3 Expert Review Green;Literature;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria type 3 MONDO:0009787 Abnormality of metabolism/homeostasis;HP:0001939 29152456 False 3 100;0;0 8.460 False ENSG00000125741 ENSG00000125741 HGNC:8142 OTC gene OTC Expert Review Green;Genomics England PanelApp 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) Ornithine transcarbamylase deficiency, 311250 Abnormality of metabolism/homeostasis;HP:0001939 2983225 False 3 100;0;0 8.460 False ENSG00000036473 ENSG00000036473 HGNC:8512 OTC gene OTC Expert Review Green;Other 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) ornithine carbamoyltransferase deficiency MONDO:0010703 Abnormality of metabolism/homeostasis;HP:0001939 26059767 False 3 100;0;0 8.460 True ENSG00000036473 ENSG00000036473 HGNC:8512 OXCT1 gene OXCT1 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050 Abnormality of metabolism/homeostasis;HP:0001939 8751852;10964512;28178565;11757586;8844009 False 3 100;0;0 8.460 True ENSG00000083720 ENSG00000083720 HGNC:8527 OXCT1 gene OXCT1 Expert Review Green;Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Succinyl CoA:3-oxoacid CoA transferase deficiency MIM#245050 Abnormality of metabolism/homeostasis;HP:0001939 25778941;10964512;8751852;23420214 False 3 100;0;0 8.460 True ENSG00000083720 ENSG00000083720 HGNC:8527 PAH gene PAH Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal phenylketonuria MONDO:0009861 Abnormality of metabolism/homeostasis;HP:0001939 1301187, 13138177 False 3 100;0;0 8.460 True ENSG00000171759 ENSG00000171759 HGNC:8582 PAH gene PAH Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Phenylketonuria MIM#261600;Disorders of phenylalanine or tyrosine metabolism Abnormality of metabolism/homeostasis;HP:0001939 27604308;3008810 False 3 100;0;0 8.460 True ENSG00000171759 ENSG00000171759 HGNC:8582 PAM16 gene PAM16 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal autosomal recessive spondylometaphyseal dysplasia, Megarbane type MONDO:0013223;Disorders of mitochondrial protein import Abnormality of metabolism/homeostasis;HP:0001939 29884839;24786642;35385740;36438081 False 3 0;0;0 8.460 False ENSG00000217930 ENSG00000217930 HGNC:29679 PANK2 gene PANK2 Expert Review Green;NHS GMS;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal HARP syndrome MIM#607236;Neurodegeneration with brain iron accumulation 1 MIM#234200 Abnormality of metabolism/homeostasis;HP:0001939 25778941;11479594;12510040;28863176 False 3 100;0;0 8.460 True ENSG00000125779 ENSG00000125779 HGNC:15894 PANK2 gene PANK2 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal pantothenate kinase-associated neurodegeneration MONDO:0009319;Disorders of pantothenate and CoA metabolism Abnormality of metabolism/homeostasis;HP:0001939 25778941, 11479594, 12510040, 28863176 False 3 0;0;0 8.460 False ENSG00000125779 ENSG00000125779 HGNC:15894 PARS2 gene PARS2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 75, MIM# 618437 Abnormality of metabolism/homeostasis;HP:0001939 29410512;28077841;25629079;29915213 False 3 100;0;0 8.460 True ENSG00000162396 ENSG00000162396 HGNC:30563 PC gene PC Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Pyruvate carboxylase deficiency 266150 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000173599 ENSG00000173599 HGNC:8636 PC gene PC Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Pyruvate carboxylase deficiency, MIM# 266150" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000173599 ENSG00000173599 HGNC:8636 PCBD1 gene PCBD1 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal pterin-4 alpha-carbinolamine dehydratase 1 deficiency MONDO:0009908 Abnormality of metabolism/homeostasis;HP:0001939 19234759 False 3 100;0;0 8.460 True ENSG00000166228 ENSG00000166228 HGNC:8646 PCBD1 gene PCBD1 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, D, 264070;Recessive neonatal hyperphenylalaninemia and later onset diabetes (puberty) Abnormality of metabolism/homeostasis;HP:0001939 24204001;24848070 False 3 100;0;0 8.460 True ENSG00000166228 ENSG00000166228 HGNC:8646 PCCA gene PCCA Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Propionicacidemia 606054 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCA gene PCCA Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal propionic acidemia MONDO:0011628 Abnormality of metabolism/homeostasis;HP:0001939 29152456;17966092;10101253;9887338 False 3 100;0;0 8.460 True ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal propionic acidemia MONDO:0011628 Abnormality of metabolism/homeostasis;HP:0001939 29152456;7386459;9683601;10502773 False 3 100;0;0 8.460 True ENSG00000114054 ENSG00000114054 HGNC:8654 PCCB gene PCCB Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Propionicacidemia 606054 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000114054 ENSG00000114054 HGNC:8654 PCK1 gene PCK1 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Phosphoenolpyruvate carboxykinase deficiency, cytosolic MIM#261680;Disorders of gluconeogenesis Abnormality of metabolism/homeostasis;HP:0001939 24863970;28216384;26971250;27604308 False 3 100;0;0 8.460 True ENSG00000124253 ENSG00000124253 HGNC:8724 PCSK9 gene PCSK9 Royal Melbourne Hospital;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypercholesterolemia Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000169174 ENSG00000169174 HGNC:20001 PDE12 gene PDE12 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease MONDO:0044970, PDE12-related Abnormality of metabolism/homeostasis;HP:0001939 PMID: 39567835 False 3 100;0;0 8.460 True ENSG00000174840 ENSG00000174840 HGNC:25386 PDHA1 gene PDHA1 Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000131828 ENSG00000131828 HGNC:8806 PDHB gene PDHB Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000168291 ENSG00000168291 HGNC:8808 PDHX gene PDHX Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000110435 ENSG00000110435 HGNC:21350 PDK3 gene PDK3 Expert list;Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship 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) Charcot-Marie-Tooth disease, X-linked dominant, 6, MIM# 300905 Abnormality of metabolism/homeostasis;HP:0001939 23297365;28902413;26801680 False 3 100;0;0 8.460 True ENSG00000067992 ENSG00000067992 HGNC:8811 PDP1 gene PDP1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000164951 ENSG00000164951 HGNC:9279 PDSS1 gene PDSS1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 2 MIM#614651 Abnormality of metabolism/homeostasis;HP:0001939 17332895;22494076;33285023 False 3 100;0;0 8.460 True ENSG00000148459 ENSG00000148459 HGNC:17759 PDSS2 gene PDSS2 Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000164494 ENSG00000164494 HGNC:23041 PDX1 gene PDX1 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal maturity-onset diabetes of the young type 4 MONDO:0011667 Abnormality of metabolism/homeostasis;HP:0001939 9326926;10545531;10720084;12970316;20009086;19496967 False 3 100;0;0 8.460 True ENSG00000139515 ENSG00000139515 HGNC:6107 PDXK gene PDXK Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy MIM#618511;Disorders of pyridoxine metabolism Abnormality of metabolism/homeostasis;HP:0001939 32522499;31187503;27604308 False 3 100;0;0 8.460 True ENSG00000160209 ENSG00000160209 HGNC:8819 PEPD gene PEPD Expert Review Green;Other Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Prolidase deficiency MONDO:0008221 Abnormality of metabolism/homeostasis;HP:0001939 2365824;19308961;16470701 False 3 100;0;0 8.460 True ENSG00000124299 ENSG00000124299 HGNC:8840 PEPD gene PEPD Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Prolidase deficiency MIM#170100;disorders of peptide metabolism Abnormality of metabolism/homeostasis;HP:0001939 27604308;2365824 False 3 100;0;0 8.460 True ENSG00000124299 ENSG00000124299 HGNC:8840 PET100 gene PET100 Expert Review Green;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 12, MIM# 619055 Abnormality of metabolism/homeostasis;HP:0001939 24462369;25293719;31406627 False 3 100;0;0 8.460 True ENSG00000229833 ENSG00000229833 HGNC:40038 PEX1 gene PEX1 Victorian Clinical Genetics Services;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Victorian Clinical Genetics Services;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 14B - MIM#614920 Abnormality of metabolism/homeostasis;HP:0001939 20301621;22581968 False 3 100;0;0 8.460 True ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 Victorian Clinical Genetics Services;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Victorian Clinical Genetics Services;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal peroxisome biogenesis disorder due to PEX14 defect MONDO:0100268 Abnormality of metabolism/homeostasis;HP:0001939 37493040 False 3 100;0;0 8.460 True ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Victorian Clinical Genetics Services;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Victorian Clinical Genetics Services;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Victorian Clinical Genetics Services;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Victorian Clinical Genetics Services;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Victorian Clinical Genetics Services;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 2A (Zellweger), MIM# 214110;Peroxisome biogenesis disorder 2B, MIM# 202370;Rhizomelic chondrodysplasia punctata, type 5, MIM# 616716 Abnormality of metabolism/homeostasis;HP:0001939 7719337;26220973;20301621 False 3 100;0;0 8.460 True ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Victorian Clinical Genetics Services;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 9B, MIM# 614879;Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100 Abnormality of metabolism/homeostasis;HP:0001939 11781871;12522768;12325024 False 3 100;0;0 8.460 True ENSG00000112357 ENSG00000112357 HGNC:8860 PFKM gene PFKM Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII (MIM#232800) Abnormality of metabolism/homeostasis;HP:0001939 24427140;27066546;30792690 False 3 100;0;0 8.460 True ENSG00000152556 ENSG00000152556 HGNC:8877 PGAM2 gene PGAM2 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease X, MIM# 261670 Abnormality of metabolism/homeostasis;HP:0001939 8447317 False 3 100;0;0 8.460 True ENSG00000164708 ENSG00000164708 HGNC:8889 PGAP2 gene PGAP2 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 3, MIM# 614207, MONDO:0013628 Abnormality of metabolism/homeostasis;HP:0001939 23561846;23561847;31805394;29119105;27871432 False 3 100;0;0 8.460 True ENSG00000148985 ENSG00000148985 HGNC:17893 PGAP3 gene PGAP3 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 4, MIM# 615716, MONDO:0014318 Abnormality of metabolism/homeostasis;HP:0001939 24439110;29620724;30345601;30217754 False 3 100;0;0 8.460 True ENSG00000161395 ENSG00000161395 HGNC:23719 PGK1 gene PGK1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Phosphoglycerate kinase 1 deficiency, MIM# 300653;MONDO:0010392 Abnormality of metabolism/homeostasis;HP:0001939 6933565;1547346;7577653;9512313 False 3 100;0;0 8.460 True ENSG00000102144 ENSG00000102144 HGNC:8896 PGM1 gene PGM1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type It 614921;Glycogen storage disorder XIV Abnormality of metabolism/homeostasis;HP:0001939 19625727;24499211 False 3 100;0;0 8.460 True ENSG00000079739 ENSG00000079739 HGNC:8905 PGM1 gene PGM1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type It 614921 Abnormality of metabolism/homeostasis;HP:0001939 24499211 False 3 100;0;0 8.460 True ENSG00000079739 ENSG00000079739 HGNC:8905 PGM3 gene PGM3 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 23, MIM# 615816;PGM3-CDG, MONDO:0014353 Abnormality of metabolism/homeostasis;HP:0001939 30578875;31231132;33098103;30157810;28704707 False 3 100;0;0 8.460 True ENSG00000013375 ENSG00000013375 HGNC:8907 PHGDH gene PHGDH Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 1 256520;Phosphoglycerate dehydrogenase deficiency 601815 Abnormality of metabolism/homeostasis;HP:0001939 24836451;25152457;11055895;19235232 False 3 100;0;0 8.460 True ENSG00000092621 ENSG00000092621 HGNC:8923 PHGDH gene PHGDH Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal neurometabolic disorder due to serine deficiency MONDO:0018162 Abnormality of metabolism/homeostasis;HP:0001939 37347880;19235232;24836451;28440900;22393170;25913727 False 3 100;0;0 8.460 False ENSG00000092621 ENSG00000092621 HGNC:8923 PHKA1 gene PHKA1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Muscle glycogenosis, MIM# 300559 Abnormality of metabolism/homeostasis;HP:0001939 7874115;12825073;9731190 False 3 100;0;0 8.460 True ENSG00000067177 ENSG00000067177 HGNC:8925 PHKA2 gene PHKA2 Victorian Clinical Genetics Services;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000044446 ENSG00000044446 HGNC:8926 PHKB gene PHKB Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750;Glycogen storage disease IXb, MONDO:0009868 Abnormality of metabolism/homeostasis;HP:0001939 9215682;25266922;30659246 False 3 100;0;0 8.460 True ENSG00000102893 ENSG00000102893 HGNC:8927 PHKG2 gene PHKG2 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IXc, MIM# 613027 Abnormality of metabolism/homeostasis;HP:0001939 8896567;9384616;10905889 False 3 100;0;0 8.460 True ENSG00000156873 ENSG00000156873 HGNC:8931 PHYH gene PHYH Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Refsum disease, MIM# 266500 Abnormality of metabolism/homeostasis;HP:0001939 9326939;9326940 False 3 100;0;0 8.460 True ENSG00000107537 ENSG00000107537 HGNC:8940 PIGA gene PIGA Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM# 301072 Abnormality of metabolism/homeostasis;HP:0001939 34875027 False 3 100;0;0 8.460 True ENSG00000165195 ENSG00000165195 HGNC:8957 PIGA gene PIGA Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 Abnormality of metabolism/homeostasis;HP:0001939 22305531;24357517;24706016;26545172;33333793;32694024 False 3 100;0;0 8.460 True ENSG00000165195 ENSG00000165195 HGNC:8957 PIGB gene PIGB Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Developmental and epileptic encephalopathy 80 618580" Abnormality of metabolism/homeostasis;HP:0001939 31256876 False 3 100;0;0 8.460 True ENSG00000069943 ENSG00000069943 HGNC:8959 PIGH gene PIGH Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 17, MIM# 618010 Abnormality of metabolism/homeostasis;HP:0001939 33156547;29573052;29603516 False 3 100;0;0 8.460 True ENSG00000100564 ENSG00000100564 HGNC:8964 PIGK gene PIGK Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures, MIM# 618879" Abnormality of metabolism/homeostasis;HP:0001939 32220290 False 3 100;0;0 8.460 True ENSG00000142892 ENSG00000142892 HGNC:8965 PIGL gene PIGL Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal CHIME syndrome, MIM# 280000, MONDO:0010221 Abnormality of metabolism/homeostasis;HP:0001939 22444671;31535386;30023290;29473937;28371479;25706356 False 3 100;0;0 8.460 True ENSG00000108474 ENSG00000108474 HGNC:8966 PIGN gene PIGN Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 1, MIM# 614080, MONDO:0013563 Abnormality of metabolism/homeostasis;HP:0001939 21493957;24253414;26364997;26394714;33193741;32585529;29330547 False 3 100;0;0 8.460 True ENSG00000197563 ENSG00000197563 HGNC:8967 PIGO gene PIGO Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 2, MIM# 614749, MONDO:0013882 Abnormality of metabolism/homeostasis;HP:0001939 22683086;31698102;28900819;28545593;28337824 False 3 100;0;0 8.460 True ENSG00000165282 ENSG00000165282 HGNC:23215 PIGP gene PIGP Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Developmental and epileptic encephalopathy 55, MIM# 617599" Abnormality of metabolism/homeostasis;HP:0001939 31139695;32042915;28334793 False 3 100;0;0 8.460 True ENSG00000185808 ENSG00000185808 HGNC:3046 PIGS gene PIGS Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Glycosylphosphatidylinositol biosynthesis defect 18 618143" Abnormality of metabolism/homeostasis;HP:0001939 30269814, False 3 100;0;0 8.460 True ENSG00000087111 ENSG00000087111 HGNC:14937 PIGT gene PIGT Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Multiple congenital anomalies-hypotonia-seizures syndrome 3, MIM# 615398, MONDO:0014165" Abnormality of metabolism/homeostasis;HP:0001939 30976099;25943031;24906948;24906948;24906948;28728837;28728837;28728837 False 3 100;0;0 8.460 True ENSG00000124155 ENSG00000124155 HGNC:14938 PIGU gene PIGU Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 21, OMIM #618590 Abnormality of metabolism/homeostasis;HP:0001939 31353022 False 3 100;0;0 8.460 True ENSG00000101464 ENSG00000101464 HGNC:15791 PIGV gene PIGV Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 1, MIM# 239300, MONDO:0009398 Abnormality of metabolism/homeostasis;HP:0001939 20802478;22315194;28817240;24129430 False 3 100;0;0 8.460 True ENSG00000060642 ENSG00000060642 HGNC:26031 PIGW gene PIGW Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Glycosylphosphatidylinositol biosynthesis defect 11, MIM# 616025;intractable seizures;West syndrome;severe developmental delay;dysmorphic facial features;hyperphosphatasia;epilepsy;recurrent respiratory infections;hypotonia;stereotypies" Abnormality of metabolism/homeostasis;HP:0001939 24367057;27626616;30813920;32198969 False 3 100;0;0 8.460 True ENSG00000184886 ENSG00000277161 HGNC:23213 PIK3R1 gene PIK3R1 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SHORT syndrome MONDO:0010026;Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger anomaly, and teething delay (SHORT) syndrome, MIM#269880 Abnormality of metabolism/homeostasis;HP:0001939 23810378;32879144;32602265;3651536;34249805;32439336 False 3 100;0;0 8.460 True Other - please provide details in the comments ENSG00000145675 ENSG00000145675 HGNC:8979 PINK1 gene PINK1 Expert Review Green;Expert list;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Parkinson disease 6, early onset, MIM# 605909 Abnormality of metabolism/homeostasis;HP:0001939 27604308;15087508;16207731;18003639;18524835 False 3 100;0;0 8.460 True ENSG00000158828 ENSG00000158828 HGNC:14581 PITRM1 gene PITRM1 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia-30 (SCAR30), MIM#619405;intellectual disability;cognitive decline;psychosis Abnormality of metabolism/homeostasis;HP:0001939 26697887;29764912 False 3 100;0;0 8.460 True ENSG00000107959 ENSG00000107959 HGNC:17663 PLA2G6 gene PLA2G6 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Infantile neuroaxonal dystrophy 1 MIM#256600;Neurodegeneration with brain iron accumulation 2B MIM#610217;Parkinson disease 14, autosomal recessive MIM#612953" Abnormality of metabolism/homeostasis;HP:0001939 25348461;26001724;26506412;30528460;16783378 False 3 100;0;0 8.460 True ENSG00000184381 ENSG00000184381 HGNC:9039 PLPBP gene PLPBP Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal pyridoxine-dependent epilepsy MONDO:0009945;Disorders of pyridoxine metabolism Abnormality of metabolism/homeostasis;HP:0001939 30668673, 36795901 False 3 0;0;0 8.460 False ENSG00000147471 ENSG00000147471 HGNC:9457 PMM2 gene PMM2 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia 212065 Abnormality of metabolism/homeostasis;HP:0001939 21541725 False 3 100;0;0 8.460 True ENSG00000140650 ENSG00000140650 HGNC:9115 PMPCA gene PMPCA Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000165688 ENSG00000165688 HGNC:18667 PMPCB gene PMPCB Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000105819 ENSG00000105819 HGNC:9119 PNP gene PNP Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179;Disorders of purine metabolism Abnormality of metabolism/homeostasis;HP:0001939 1384322;11453975;32695102;3029074;32514656 False 3 100;0;0 8.460 False ENSG00000198805 ENSG00000198805 HGNC:7892 PNP gene PNP Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179" Abnormality of metabolism/homeostasis;HP:0001939 3029074;1384322;11453975;32695102;32514656 False 3 100;0;0 8.460 True ENSG00000198805 ENSG00000198805 HGNC:7892 PNPLA8 gene PNPLA8 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Complex neurodevelopmental disorder, MONDO:0100038, PNPLA8-related;Mitochondrial myopathy with lactic acidosis (MIM#251950), AR Abnormality of metabolism/homeostasis;HP:0001939 29681094;25512002 False 3 100;0;0 8.460 True ENSG00000135241 ENSG00000135241 HGNC:28900 PNPO gene PNPO Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Pyridoxal phosphate-responsive seizures MONDO:0012407;Disorders of pyridoxine metabolism Abnormality of metabolism/homeostasis;HP:0001939 34769443, 33981986, 33748042, 32888189 False 3 0;0;0 8.460 False ENSG00000108439 ENSG00000108439 HGNC:30260 PNPO gene PNPO Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000108439 ENSG00000108439 HGNC:30260 PNPT1 gene PNPT1 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 13 (MIM#614932);Deafness, autosomal recessive 70 (MIM#614934) Abnormality of metabolism/homeostasis;HP:0001939 31752325;28645153 False 3 67;33;0 8.460 True ENSG00000138035 ENSG00000138035 HGNC:23166 POLD1 gene POLD1 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted mandibular hypoplasia-deafness-progeroid syndrome MONDO:0014157 Abnormality of metabolism/homeostasis;HP:0001939 23770608;33369179;32826474;30023403;29199204;28791128 False 3 100;0;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 ENSG00000062822 ENSG00000062822 HGNC:9175 POLG gene POLG Expert Review Green;Expert Review Green;Genomics England PanelApp;Expert list;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLG gene POLG Expert Review Green;Expert list;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLG2 gene POLG2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, MIM# 610131;Mitochondrial DNA depletion syndrome 16 , MIM# 618528 Abnormality of metabolism/homeostasis;HP:0001939 16685652;21555342;27592148;31778857 False 3 100;0;0 8.460 True ENSG00000256525 ENSG00000256525 HGNC:9180 POLRMT gene POLRMT Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 55, MIM# 619743;intellectual disability;hypotonia Abnormality of metabolism/homeostasis;HP:0001939 33602924 False 3 100;0;0 8.460 True ENSG00000099821 ENSG00000099821 HGNC:9200 POMGNT1 gene POMGNT1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, 253280;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, 613151;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 613157 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 614830;Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 618135 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000185900 ENSG00000185900 HGNC:26267 POMT1 gene POMT1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308;Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 1 613155 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000009830 ENSG00000009830 HGNC:19743 POR gene POR Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750;Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 Abnormality of metabolism/homeostasis;HP:0001939 27604308;14758361;15793702;15220035;15483095;16470797 False 3 100;0;0 8.460 True ENSG00000127948 ENSG00000127948 HGNC:9208 PPA2 gene PPA2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000138777 ENSG00000138777 HGNC:28883 PPARG gene PPARG Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Insulin resistance, severe, digenic;FPLD3;Obesity, severe, 601665;{Diabetes, type 2}, 125853;Lipodystrophy, familial partial, type 3;Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension;Insulin resistance, severe, digenic 604367;[Obesity, resistance to];Lipodystrophy, familial partial, type 3, 604367;Insulin resistance, severe, digenic, 604367;Lipodystrophy, familial partial, type 3 604367;LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3;Carotid intimal medial thickness 1, 609338 Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;100 8.460 False ENSG00000132170 ENSG00000132170 HGNC:9236 PPCS gene PPCS Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 2C, MIM# 618189 Abnormality of metabolism/homeostasis;HP:0001939 29754768;35616428 False 3 50;50;0 8.460 True ENSG00000127125 ENSG00000127125 HGNC:25686 PPOX gene PPOX Expert Review Green;Expert Review Green;NHS GMS;Literature;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Porphyria variegata MIM#176200" Abnormality of metabolism/homeostasis;HP:0001939 25778941;9811936;12859407;30476629 False 3 100;0;0 8.460 True ENSG00000143224 ENSG00000143224 HGNC:9280 PPOX gene PPOX Expert Review Green;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Porphyria variegata, MIM# 176200;Variegate porphyria, childhood-onset, MIM# 620483 Abnormality of metabolism/homeostasis;HP:0001939 27982422;9811936;11286631;33159949 False 3 100;0;0 8.460 True ENSG00000143224 ENSG00000143224 HGNC:9280 PPT1 gene PPT1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1, MIM# 256730;MONDO:0009744 Abnormality of metabolism/homeostasis;HP:0001939 7637805;9425237;9664077 False 3 100;0;0 8.460 True ENSG00000131238 ENSG00000131238 HGNC:9325 PRDX1 gene PRDX1 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders Other methylmalonic aciduria and homocystinuria type cblC MONDO:0010184 Abnormality of metabolism/homeostasis;HP:0001939 29302025;35190856 False 3 100;0;0 8.460 True Other ENSG00000117450 ENSG00000117450 HGNC:9352 PRDX3 gene PRDX3 Expert Review Green;Literature;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia (early onset, mild to moderate, progressive) Abnormality of metabolism/homeostasis;HP:0001939 33889951 False 3 100;0;0 8.460 True ENSG00000165672 ENSG00000165672 HGNC:9354 PREPL gene PREPL Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 22 MIM#616224;hypotonia-cystinuria syndrome;Disorders of amino acid transport Abnormality of metabolism/homeostasis;HP:0001939 28726805;27604308 False 3 100;0;0 8.460 True ENSG00000138078 ENSG00000138078 HGNC:30228 PRKAG2 gene PRKAG2 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glycogen storage disease of heart, lethal congenital, MIM# 261740 Abnormality of metabolism/homeostasis;HP:0001939 15877279;17667862;32646569 False 3 100;0;0 8.460 True ENSG00000106617 ENSG00000106617 HGNC:9386 PRKN gene PRKN Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of mitochondrial protein quality control;Parkinson disease MONDO:0005180 Abnormality of metabolism/homeostasis;HP:0001939 29884839;38069350 False 3 0;0;0 8.460 False ENSG00000185345 ENSG00000185345 HGNC:8607 PRODH gene PRODH Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hyperprolinemia type 1 MONDO:0009400 Abnormality of metabolism/homeostasis;HP:0001939 12217952 False 3 100;0;0 8.460 True ENSG00000100033 ENSG00000100033 HGNC:9453 PRODH gene PRODH Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Hyperprolinemia, type I 239500;Proline oxidase deficiency" Abnormality of metabolism/homeostasis;HP:0001939 17412540;12217952 False 3 100;0;0 8.460 True ENSG00000100033 ENSG00000100033 HGNC:9453 PRPS1 gene PRPS1 Expert Review Green;Expert Review Green;Expert Review;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females PRPS1 deficiency disorder MONDO:0100061;Disorders of purine metabolism Abnormality of metabolism/homeostasis;HP:0001939 20380929;17701900 False 3 100;0;0 8.460 False ENSG00000147224 ENSG00000147224 HGNC:9462 PRPS1 gene PRPS1 Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Arts syndrome 301835;Charcot-Marie-Tooth disease, X-linked recessive, 5 311070;Deafness, X-linked 1 304500;Gout, PRPS-related 300661;Phosphoribosylpyrophosphate synthetase superactivity 300661 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000147224 ENSG00000147224 HGNC:9462 PSAP gene PSAP Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined SAP deficiency, MIM# 611721;Encephalopathy due to prosaposin deficiency, MONDO:0012719;Krabbe disease, atypical, MIM# 611722;MONDO:0012720;Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900;MONDO:0009590;Gaucher disease, atypical, MIM# 610539;MONDO:0012517 Abnormality of metabolism/homeostasis;HP:0001939 10682309;1371116;15773042;31061751;30632081 False 3 100;0;0 8.460 True ENSG00000197746 ENSG00000197746 HGNC:9498 PSAT1 gene PSAT1 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Phosphoserine aminotransferase deficiency MIM#610992;Neu-Laxova syndrome 2 MIM#616038 Abnormality of metabolism/homeostasis;HP:0001939 32077105 False 3 100;0;0 8.460 True ENSG00000135069 ENSG00000135069 HGNC:19129 PSAT1 gene PSAT1 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal neurometabolic disorder due to serine deficiency MONDO:0018162 Abnormality of metabolism/homeostasis;HP:0001939 26610677;12633500;27626380;32077105 False 3 100;0;0 8.460 True ENSG00000135069 ENSG00000135069 HGNC:19129 PSPH gene PSPH Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal neurometabolic disorder due to serine deficiency MONDO:0018162 Abnormality of metabolism/homeostasis;HP:0001939 26589312, 25080166, 14673469;27604308;26888760;25152457 False 3 100;0;0 8.460 True ENSG00000146733 ENSG00000146733 HGNC:9577 PSPH gene PSPH Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Phosphoserine phosphatase deficiency MIM#614023;Disorders of serine, glycine or glycerate metabolism Abnormality of metabolism/homeostasis;HP:0001939 14673469;25080166;27604308;26888760;25152457 False 3 100;0;0 8.460 True ENSG00000146733 ENSG00000146733 HGNC:9577 PTCD3 gene PTCD3 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency-51, MIM#619057;Mental retardation;optic atrophy;Leigh-like syndrome Abnormality of metabolism/homeostasis;HP:0001939 30607703;19427859;36450274 False 3 50;50;0 8.460 True ENSG00000132300 ENSG00000132300 HGNC:24717 PTF1A gene PTF1A Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Diabetes mellitus, permanent neonatal, with cerebellar agenesis, MIM#609069 Abnormality of metabolism/homeostasis;HP:0001939 24212882;21749365;10507728;15543146;19650412;37854477 False 3 100;0;0 8.460 True ENSG00000168267 ENSG00000168267 HGNC:23734 PTPMT1 gene PTPMT1 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal inborn mitochondrial metabolism disorder MONDO:0004069 Abnormality of metabolism/homeostasis;HP:0001939 39279645;37672386 False 3 100;0;0 8.460 True ENSG00000110536 ENSG00000110536 HGNC:26965 PTRH2 gene PTRH2 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Miscellaneous disorders associated with mitochondrial dysfunction;neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:8000012 Abnormality of metabolism/homeostasis;HP:0001939 29884839;37239392 False 3 0;0;0 8.460 False ENSG00000141378 ENSG00000141378 HGNC:24265 PTS gene PTS Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal BH4-deficient hyperphenylalaninemia A MONDO:0009863 Abnormality of metabolism/homeostasis;HP:0001939 22729819;21542064;20059486 False 3 100;0;0 8.460 True ENSG00000150787 ENSG00000150787 HGNC:9689 PTS gene PTS Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640 Abnormality of metabolism/homeostasis;HP:0001939 9222755 False 3 100;0;0 8.460 True ENSG00000150787 ENSG00000150787 HGNC:9689 PUS1 gene PUS1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462 Abnormality of metabolism/homeostasis;HP:0001939 25227147;17056637;15108122;32287105;31641589;28832011 False 3 100;0;0 8.460 True ENSG00000177192 ENSG00000177192 HGNC:15508 PYCR1 gene PYCR1 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIB MIM#612940;Cutis laxa, autosomal recessive, type IIIB MIM#614438;Disorders of ornithine or proline metabolism Abnormality of metabolism/homeostasis;HP:0001939 19576563;27604308 False 3 100;0;0 8.460 True ENSG00000183010 ENSG00000183010 HGNC:9721 PYCR1 gene PYCR1 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal autosomal recessive cutis laxa type 2B MONDO:0013051 Abnormality of metabolism/homeostasis;HP:0001939 19576563;19648921 False 3 100;0;0 8.460 True ENSG00000183010 ENSG00000183010 HGNC:9721 PYCR2 gene PYCR2 Expert Review Green;Other Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hypomyelinating leukodystrophy 10 MONDO:0014632;Disorders of ornithine, proline and hydroxyproline metabolism Abnormality of metabolism/homeostasis;HP:0001939 25865492;27130255 False 3 100;0;0 8.460 True ENSG00000143811 ENSG00000143811 HGNC:30262 PYGL gene PYGL Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VI, MIM# 232700 Abnormality of metabolism/homeostasis;HP:0001939 9529348;9536091;33505429;32961316;32892177 False 3 100;0;0 8.460 True ENSG00000100504 ENSG00000100504 HGNC:9725 PYGM gene PYGM Expert Review Green;Genomics England PanelApp;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal McArdle disease 232600 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000068976 ENSG00000068976 HGNC:9726 PYGM gene PYGM Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal McArdle disease, MIM# 232600;Glycogen storage disease, autosomal dominant Abnormality of metabolism/homeostasis;HP:0001939 32386344 False 3 100;0;0 8.460 True ENSG00000068976 ENSG00000068976 HGNC:9726 QARS gene QARS Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760 Abnormality of metabolism/homeostasis;HP:0001939 28620870;25471517;25432320;25041233;24656866;32042906 False 3 100;0;0 8.460 True ENSG00000172053 ENSG00000172053 HGNC:9751 QDPR gene QDPR Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal dihydropteridine reductase deficiency MONDO:0009862 Abnormality of metabolism/homeostasis;HP:0001939 14114862;3033643;11153907;9341885;19099731 False 3 100;0;0 8.460 True ENSG00000151552 ENSG00000151552 HGNC:9752 QDPR gene QDPR Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630 Abnormality of metabolism/homeostasis;HP:0001939 11153907 False 3 100;0;0 8.460 True ENSG00000151552 ENSG00000151552 HGNC:9752 QRSL1 gene QRSL1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 40 Abnormality of metabolism/homeostasis;HP:0001939 26741492;29440775;30283131;30642647 False 3 100;0;0 8.460 True ENSG00000130348 ENSG00000130348 HGNC:21020 RAB7A gene RAB7A Expert Review Green Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Disorders of autophagy;Charcot-Marie-Tooth disease type 2 MONDO:0018993 Abnormality of metabolism/homeostasis;HP:0001939 35159308;36449254;29884839 False 3 0;0;0 8.460 False ENSG00000075785 ENSG00000075785 HGNC:9788 RANBP2 gene RANBP2 Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000153201 ENSG00000153201 HGNC:9848 RARS2 gene RARS2 Expert Review Green;Expert list;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 50;0;50 8.460 False ENSG00000146282 ENSG00000146282 HGNC:21406 RBCK1 gene RBCK1 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Polyglucosan body myopathy 1 with or without immunodeficiency MIM#615895 Abnormality of metabolism/homeostasis;HP:0001939 23798481;23104095 False 3 100;0;0 8.460 True ENSG00000125826 ENSG00000125826 HGNC:15864 RBP4 gene RBP4 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Microphthalmia, isolated, with coloboma 10, MIM# 616428;Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, MIM# 615147" Abnormality of metabolism/homeostasis;HP:0001939 9888420;23189188;25910211;32323592;29847795;29178648;27892788 False 3 100;0;0 8.460 True ENSG00000138207 ENSG00000138207 HGNC:9922 RBP4 gene RBP4 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Other disorders of vitamin metabolism;microphthalmia, isolated, with coloboma 10 MONDO:0014635 Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000138207 ENSG00000138207 HGNC:9922 RDH12 gene RDH12 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 13 MONDO:0012990;Other disorders of vitamin metabolism Abnormality of metabolism/homeostasis;HP:0001939 15322982;16269441 False 3 0;0;0 8.460 False ENSG00000139988 ENSG00000139988 HGNC:19977 RDH5 gene RDH5 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Fundus albipunctatus;Other disorders of vitamin metabolism Abnormality of metabolism/homeostasis;HP:0001939 32232344;10369264 False 3 0;0;0 8.460 False ENSG00000135437 ENSG00000135437 HGNC:9940 RFT1 gene RFT1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type In, MIM# 612015;RFT1-CDG, MONDO:0012783 Abnormality of metabolism/homeostasis;HP:0001939 18313027;19701946;19856127;23111317;30071302;29923091;27927990;26892341 False 3 100;0;0 8.460 True ENSG00000163933 ENSG00000163933 HGNC:30220 RFX6 gene RFX6 Expert Review Green;Expert list;NHS GMS;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitchell-Riley syndrome, 615710;Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities;recessive syndromic diabetes and autosomal dominant MODY Abnormality of metabolism/homeostasis;HP:0001939 27167055;27185633;26770845;26761945;26264437;26559129;25048417 False 3 100;0;0 8.460 False ENSG00000185002 ENSG00000185002 HGNC:21478 RLBP1 gene RLBP1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Other disorders of vitamin metabolism;RLBP1-related retinopathy MONDO:0100444 Abnormality of metabolism/homeostasis;HP:0001939 9326942 False 3 0;0;0 8.460 False ENSG00000140522 ENSG00000140522 HGNC:10024 RMND1 gene RMND1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 11 MIM#614922 Abnormality of metabolism/homeostasis;HP:0001939 18835491;23022099;23022098;25604853;26395190 False 3 100;0;0 8.460 True ENSG00000155906 ENSG00000155906 HGNC:21176 RMRP gene RMRP Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of ribosomal biogenesis;cartilage-hair hypoplasia MONDO:0009595 Abnormality of metabolism/homeostasis;HP:0001939 29884839;38337186 False 3 0;0;0 8.460 False ENSG00000269900 ENSG00000269900 HGNC:10031 RNASEH1 gene RNASEH1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 MIM#616479 Abnormality of metabolism/homeostasis;HP:0001939 26094573;31258551 False 3 100;0;0 8.460 True ENSG00000171865 ENSG00000171865 HGNC:18466 RNASEH2A gene RNASEH2A Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of ectonucleotide and nucleic acid metabolism;Aicardi-Goutieres syndrome MONDO:0018866 Abnormality of metabolism/homeostasis;HP:0001939 25604658;23592335;20301648 False 3 100;0;0 8.460 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of ectonucleotide and nucleic acid metabolism;Aicardi-Goutieres syndrome MONDO:0018866 Abnormality of metabolism/homeostasis;HP:0001939 33307271;29239743;16845400 False 3 100;0;0 8.460 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of ectonucleotide and nucleic acid metabolism;Aicardi-Goutieres syndrome MONDO:0018866 Abnormality of metabolism/homeostasis;HP:0001939 24183309;23322642;16845400 False 3 100;0;0 8.460 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNASET2 gene RNASET2 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of ectonucleotide and nucleic acid metabolism;cystic leukoencephalopathy without megalencephaly MONDO:0013058 Abnormality of metabolism/homeostasis;HP:0001939 19525954;29336640;15851732;27091087;31349848;18545798 False 3 100;0;0 8.460 False ENSG00000026297 ENSG00000026297 HGNC:21686 RNF213 gene RNF213 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Moyamoya disease, MONDO:0016820;pediatric arterial ischemic stroke, MONDO:0018585 Abnormality of metabolism/homeostasis;HP:0001939 37924258 False 3 100;0;0 8.460 True ENSG00000173821 ENSG00000173821 HGNC:14539 RPE65 gene RPE65 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of vitamin A metabolism;RPE65-related recessive retinopathy MONDO:0100368 Abnormality of metabolism/homeostasis;HP:0001939 9326941 False 3 0;0;0 8.460 False ENSG00000116745 ENSG00000116745 HGNC:10294 RPIA gene RPIA Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Ribose 5-phosphate isomerase deficiency, MIM# 608611;Leukoencephalopathy" Abnormality of metabolism/homeostasis;HP:0001939 14988808;31056085;31247379 False 3 100;0;0 8.460 True ENSG00000153574 ENSG00000153574 HGNC:10297 RRM2B gene RRM2B Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000048392 ENSG00000048392 HGNC:17296 RTN4IP1 gene RTN4IP1 Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000130347 ENSG00000130347 HGNC:18647 SACS gene SACS Expert list;Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550" Abnormality of metabolism/homeostasis;HP:0001939 22307627;20876471 False 3 100;0;0 8.460 True ENSG00000151835 ENSG00000151835 HGNC:10519 SAMHD1 gene SAMHD1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of mitochondrial nucleotide pool maintenance;Aicardi-Goutieres syndrome MONDO:0018866 Abnormality of metabolism/homeostasis;HP:0001939 33307271;21102625;19525956;20301648 False 3 100;0;0 8.460 False ENSG00000101347 ENSG00000101347 HGNC:15925 SAR1B gene SAR1B Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Chylomicron retention disease, MIM# 246700 Abnormality of metabolism/homeostasis;HP:0001939 12692552 False 3 100;0;0 8.460 True ENSG00000152700 ENSG00000152700 HGNC:10535 SAR1B gene SAR1B Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Chylomicron retention disease, MIM# 246700" Abnormality of metabolism/homeostasis;HP:0001939 12692552 False 3 100;0;0 8.460 True ENSG00000152700 ENSG00000152700 HGNC:10535 SARS2 gene SARS2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000104835 ENSG00000104835 HGNC:17697 SC5D gene SC5D Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Lathosterolosis, MIM# 607330" Abnormality of metabolism/homeostasis;HP:0001939 17853487;12189593;12812989;24142275 False 3 100;0;0 8.460 True ENSG00000109929 ENSG00000109929 HGNC:10547 SCARB2 gene SCARB2 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal action myoclonus-renal failure syndrome MONDO:0009699;Other disorders of complex molecule degradation Abnormality of metabolism/homeostasis;HP:0001939 26677510;29884839 False 3 0;0;0 8.460 False ENSG00000138760 ENSG00000138760 HGNC:1665 SCO1 gene SCO1 Expert Review Green;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 4, MIM# 619048 Abnormality of metabolism/homeostasis;HP:0001939 11013136;19295170;31352446;23878101 False 3 100;0;0 8.460 True ENSG00000133028 ENSG00000133028 HGNC:10603 SCO2 gene SCO2 Royal Melbourne Hospital;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 50;50;0 8.460 False ENSG00000130489 ENSG00000130489 HGNC:10604 SDHA gene SDHA Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF1 gene SDHAF1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166 Abnormality of metabolism/homeostasis;HP:0001939 19465911;26749241;22995659 False 3 100;0;0 8.460 True ENSG00000205138 ENSG00000205138 HGNC:33867 SDHB gene SDHB Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 4, MIM# 619224;Complex II deficiency;mitochondrial leucoencephalopathy Abnormality of metabolism/homeostasis;HP:0001939 22972948;26925370;27604842 False 3 100;0;0 8.460 True ENSG00000117118 ENSG00000117118 HGNC:10681 SDHD gene SDHD Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167 Abnormality of metabolism/homeostasis;HP:0001939 24367056;26008905 False 3 100;0;0 8.460 True ENSG00000204370 ENSG00000204370 HGNC:10683 SEC23B gene SEC23B Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type II 224100;COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) Abnormality of metabolism/homeostasis;HP:0001939 19561605;19621418 False 3 100;0;0 8.460 True ENSG00000101310 ENSG00000101310 HGNC:10702 SECISBP2 gene SECISBP2 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal thyroid hormone metabolism, abnormal 1 MONDO:0800046;Other disorders of trace element metabolism Abnormality of metabolism/homeostasis;HP:0001939 16228000, 19602558, 21084748, 22247018 False 3 0;0;0 8.460 False ENSG00000187742 ENSG00000187742 HGNC:30972 SELENBP1 gene SELENBP1 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal extraoral halitosis due to methanethiol oxidase deficiency MONDO:0029144 Abnormality of metabolism/homeostasis;HP:0001939 29255262 False 3 100;0;0 8.460 True ENSG00000143416 ENSG00000143416 HGNC:10719 SEPSECS gene SEPSECS Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal pontocerebellar hypoplasia type 2D MONDO:0013438;Other disorders of trace element metabolism Abnormality of metabolism/homeostasis;HP:0001939 20920667, 25044680, 31748115, 29464431 False 3 0;0;0 8.460 False ENSG00000109618 ENSG00000109618 HGNC:30605 SERAC1 gene SERAC1 Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000122335 ENSG00000122335 HGNC:21061 SERAC1 gene SERAC1 Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal MEGDHEL syndrome;MEGDEL syndrome;3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739;3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome;Hypoglycemia Abnormality of metabolism/homeostasis;HP:0001939 27604308;28482397;27186703;22683713;28778788;16527507;29205472 False 3 100;0;0 8.460 False ENSG00000122335 ENSG00000122335 HGNC:21061 SERAC1 gene SERAC1 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0013875 Abnormality of metabolism/homeostasis;HP:0001939 29152456;29205472;32684373;24741715 False 3 100;0;0 8.460 True ENSG00000122335 ENSG00000122335 HGNC:21061 SFXN4 gene SFXN4 Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000183605 ENSG00000183605 HGNC:16088 SGSH gene SGSH Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900;MONDO:0009655 Abnormality of metabolism/homeostasis;HP:0001939 7493035;9158154;9401012;9554748 False 3 100;0;0 8.460 True ENSG00000181523 ENSG00000181523 HGNC:10818 SHMT2 gene SHMT2 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 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 Abnormality of metabolism/homeostasis;HP:0001939 33015733 False 3 100;0;0 8.460 True ENSG00000182199 ENSG00000182199 HGNC:10852 SHMT2 gene SHMT2 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities MONDO:0030866 Abnormality of metabolism/homeostasis;HP:0001939 33015733;35398349;29323231 False 3 100;0;0 8.460 True ENSG00000182199 ENSG00000182199 HGNC:10852 SI gene SI Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Sucrase-isomaltase deficiency, congenital, MIM# 222900" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000090402 ENSG00000090402 HGNC:10856 SLC10A1 gene SLC10A1 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Familial hypercholanemia-2, MIM#619256 Abnormality of metabolism/homeostasis;HP:0001939 24867799;27882152;28835676;29290974;31201272 False 3 100;0;0 8.460 True ENSG00000100652 ENSG00000100652 HGNC:10905 SLC10A7 gene SLC10A7 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis, MIM# 618363 Abnormality of metabolism/homeostasis;HP:0001939 30082715;29878199;31191616 False 3 100;0;0 8.460 True ENSG00000120519 ENSG00000120519 HGNC:23088 SLC11A2 gene SLC11A2 NHS Genomic Medicine Service;Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal AHMIO1;206100 Anemia, hypochromic microcytic, with iron overload 1;AHMIO1 DMT1-related anemia;206100 ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1;DMT1-related anemia Abnormality of metabolism/homeostasis;HP:0001939 16439678;15459009;16160008 False 3 100;0;0 8.460 False ENSG00000110911 ENSG00000110911 HGNC:10908 SLC12A3 gene SLC12A3 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of magnesium metabolism;Gitelman syndrome MONDO:0009904 Abnormality of metabolism/homeostasis;HP:0001939 34604137, 35170241 False 3 0;0;0 8.460 False ENSG00000070915 ENSG00000070915 HGNC:10912 SLC16A1 gene SLC16A1 Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Monocarboxylate transporter 1 deficiency, MIM# 616095" Abnormality of metabolism/homeostasis;HP:0001939 25390740 False 3 100;0;0 8.460 True ENSG00000155380 ENSG00000155380 HGNC:10922 SLC17A5 gene SLC17A5 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Salla disease 604369;MONDO:0011449;Sialic acid storage disorder, infantile 269920;MONDO:0010027 Abnormality of metabolism/homeostasis;HP:0001939 10581036;10947946 False 3 100;0;0 8.460 True ENSG00000119899 ENSG00000119899 HGNC:10933 SLC18A2 gene SLC18A2 Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Parkinsonism-dystonia, infantile, 2, MIM# 618049" Abnormality of metabolism/homeostasis;HP:0001939 23363473;31240161;26497564;9427250;11463816;9427251 False 3 100;0;0 8.460 True ENSG00000165646 ENSG00000165646 HGNC:10935 SLC19A2 gene SLC19A2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000117479 ENSG00000117479 HGNC:10938 SLC19A2 gene SLC19A2 Expert Review Green;UKGTN Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal thiamine-responsive megaloblastic anemia syndrome MONDO:0009575 Abnormality of metabolism/homeostasis;HP:0001939 10391221;14994241;22369132;35114785 False 3 100;0;0 8.460 True ENSG00000117479 ENSG00000117479 HGNC:10938 SLC19A3 gene SLC19A3 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000135917 ENSG00000135917 HGNC:16266 SLC1A2 gene SLC1A2 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted developmental and epileptic encephalopathy, 41 MONDO:0014916 Abnormality of metabolism/homeostasis;HP:0001939 23934111;27476654;28777935;30937933 False 3 100;0;0 8.460 True ENSG00000110436 ENSG00000110436 HGNC:10940 SLC1A3 gene SLC1A3 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted episodic ataxia type 6 MONDO:0012982 Abnormality of metabolism/homeostasis;HP:0001939 27829685, 16116111, 29062094, 19139306, 29208948, 29066757, 32754645, 25497598 False 3 100;0;0 8.460 True Other ENSG00000079215 ENSG00000079215 HGNC:10941 SLC1A4 gene SLC1A4 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome MONDO:0014725 Abnormality of metabolism/homeostasis;HP:0001939 25930971, 27711071, 29989513, 29652076, 26041762, 27193218, 30125339 False 3 100;0;0 8.460 True ENSG00000115902 ENSG00000115902 HGNC:10942 SLC22A12 gene SLC22A12 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hereditary renal hypouricemia MONDO:0009071;Disorders of purine metabolism Abnormality of metabolism/homeostasis;HP:0001939 14655203;26821810;34756726;34829836;34412930 False 3 100;0;0 8.460 False ENSG00000197891 ENSG00000197891 HGNC:17989 SLC22A5 gene SLC22A5 Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Propionicacidemia 606054" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLC22A5 gene SLC22A5 Expert Review Green;Literature;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary MIM#212140 Abnormality of metabolism/homeostasis;HP:0001939 9916797;25778941;17884651 False 3 100;0;0 8.460 True ENSG00000197375 ENSG00000197375 HGNC:10969 SLC22A5 gene SLC22A5 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary, MIM# 212140 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A1 gene SLC25A1 Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A12 gene SLC25A12 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 39, MIM# 612949 Abnormality of metabolism/homeostasis;HP:0001939 19641205;24515575;35008954;32700846;31766059;31514314 False 3 100;0;0 8.460 True ENSG00000115840 ENSG00000115840 HGNC:10982 SLC25A13 gene SLC25A13 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal citrin deficiency MONDO:0016602 Abnormality of metabolism/homeostasis;HP:0001939 18367750;10369257;19036621;18392553;11343053;31607264 False 3 100;0;0 8.460 True ENSG00000004864 ENSG00000004864 HGNC:10983 SLC25A13 gene SLC25A13 Expert Review Green;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Citrullinemia, adult-onset type II 603471 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000004864 ENSG00000004864 HGNC:10983 SLC25A15 gene SLC25A15 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal ornithine translocase deficiency MONDO:0009393 (HHH Syndrome) Abnormality of metabolism/homeostasis;HP:0001939 25874378 False 3 100;0;0 8.460 True ENSG00000102743 ENSG00000102743 HGNC:10985 SLC25A15 gene SLC25A15 Expert Review Green;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000102743 ENSG00000102743 HGNC:10985 SLC25A19 gene SLC25A19 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A20 gene SLC25A20 Expert Review Green;Expert Review Green;NHS GMS;Literature;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Carnitine-acylcarnitine translocase deficiency MIM#212138 Abnormality of metabolism/homeostasis;HP:0001939 9399886;31108048;25778941 False 3 100;0;0 8.460 True ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A20 gene SLC25A20 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Carnitine-acylcarnitine translocase deficiency, MIM# 212138 Abnormality of metabolism/homeostasis;HP:0001939 15363639;15365988;24088670 False 3 100;0;0 8.460 True ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A20 gene SLC25A20 Expert Review Green;Genomics England PanelApp;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Carnitine-acylcarnitine translocase deficiency 212138 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A22 gene SLC25A22 Expert Review Green;Other Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy MONDO:0100062 Abnormality of metabolism/homeostasis;HP:0001939 15592994;19780765;24596948 False 3 100;0;0 8.460 True ENSG00000177542 ENSG00000177542 HGNC:19954 SLC25A24 gene SLC25A24 Expert Review Green;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Fontaine progeroid syndrome MIM#612289" Abnormality of metabolism/homeostasis;HP:0001939 29100094;29100093 False 3 100;0;0 8.460 True ENSG00000085491 ENSG00000085491 HGNC:20662 SLC25A26 gene SLC25A26 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 28, MIM# 616794 Abnormality of metabolism/homeostasis;HP:0001939 26522469 False 3 100;0;0 8.460 True ENSG00000144741 ENSG00000144741 HGNC:20661 SLC25A3 gene SLC25A3 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial phosphate carrier deficiency, MIM# 610773 Abnormality of metabolism/homeostasis;HP:0001939 17273968;21763135;25681081 False 3 100;0;0 8.460 True ENSG00000075415 ENSG00000075415 HGNC:10989 SLC25A32 gene SLC25A32 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Exercise intolerance, riboflavin-responsive, MIM# 616839 Abnormality of metabolism/homeostasis;HP:0001939 26933868;28443623 False 3 100;0;0 8.460 True ENSG00000164933 ENSG00000164933 HGNC:29683 SLC25A32 gene SLC25A32 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Exercise intolerance, riboflavin-responsive, MONDO:0014795;Disorders of riboflavin metabolism Abnormality of metabolism/homeostasis;HP:0001939 26933868;28443623 False 3 0;0;0 8.460 False ENSG00000164933 ENSG00000164933 HGNC:29683 SLC25A36 gene SLC25A36 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperinsulinemic hypoglycemia, familial, 8 - MIM#620211 Abnormality of metabolism/homeostasis;HP:0001939 34971397;34576089;31036718 False 3 100;0;0 8.460 True ENSG00000114120 ENSG00000114120 HGNC:25554 SLC25A36 gene SLC25A36 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperinsulinemic hypoglycemia, familial, 8 - MIM#620211 Abnormality of metabolism/homeostasis;HP:0001939 34971397;34576089;31036718 False 3 100;0;0 8.460 True ENSG00000114120 ENSG00000114120 HGNC:25554 SLC25A38 gene SLC25A38 NHS Genomic Medicine Service;Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 205950 Anemia, sideroblastic, 2, pyridoxine-refractory;Sideroblastic anaemia - increased serum ferritin Abnormality of metabolism/homeostasis;HP:0001939 21393332;19412178;24323989 False 3 0;0;0 8.460 False ENSG00000144659 ENSG00000144659 HGNC:26054 SLC25A38 gene SLC25A38 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950" Abnormality of metabolism/homeostasis;HP:0001939 19412178 False 3 100;0;0 8.460 True ENSG00000144659 ENSG00000144659 HGNC:26054 SLC25A4 gene SLC25A4 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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 Abnormality of metabolism/homeostasis;HP:0001939 30046662;30013777;29654543;28823815 False 3 100;0;0 8.460 True ENSG00000151729 ENSG00000151729 HGNC:10990 SLC25A42 gene SLC25A42 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression , MIM#618416 Abnormality of metabolism/homeostasis;HP:0001939 26541337;29327420;29923093;34258143 False 3 100;0;0 8.460 True ENSG00000181035 ENSG00000181035 HGNC:28380 SLC25A46 gene SLC25A46 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505;Pontocerebellar hypoplasia, type 1E, MIM# 619303 Abnormality of metabolism/homeostasis;HP:0001939 30178502;26168012;27543974;27430653;27390132;28934388;28558379 False 3 100;0;0 8.460 True ENSG00000164209 ENSG00000164209 HGNC:25198 SLC29A3 gene SLC29A3 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of ectonucleotide and nucleic acid metabolism;H syndrome MONDO:0011273 Abnormality of metabolism/homeostasis;HP:0001939 22238637;18940313;19336477 False 3 100;0;0 8.460 False ENSG00000198246 ENSG00000198246 HGNC:23096 SLC29A3 gene SLC29A3 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Histiocytosis-lymphadenopathy plus syndrome, MIM#602782 Abnormality of metabolism/homeostasis;HP:0001939 19336477;22238637;38163427;24894595 False 3 100;0;0 8.460 True ENSG00000198246 ENSG00000198246 HGNC:23096 SLC2A1 gene SLC2A1 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal GLUT1 deficiency syndrome 1, infantile onset, severe, 606777;GLUT1 deficiency syndrome 2, childhood onset, 612126;Disorders of glucose transport Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000117394 ENSG00000117394 HGNC:11005 SLC2A10 gene SLC2A10 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Arterial tortuosity syndrome MONDO:0008818;Other disorders of vitamin metabolism Abnormality of metabolism/homeostasis;HP:0001939 16550171, 17935213 False 3 0;0;0 8.460 False ENSG00000197496 ENSG00000197496 HGNC:13444 SLC2A2 gene SLC2A2 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Fanconi-Bickel syndrome (MIM#227810) Abnormality of metabolism/homeostasis;HP:0001939 30950137;22145468 False 3 100;0;0 8.460 True ENSG00000163581 ENSG00000163581 HGNC:11006 SLC2A2 gene SLC2A2 Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Fanconi-Bickel syndrome, MIM# 227810" Abnormality of metabolism/homeostasis;HP:0001939 PMID: 23456528;22831748;22660720 False 3 100;0;0 8.460 True ENSG00000163581 ENSG00000163581 HGNC:11006 SLC2A9 gene SLC2A9 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hereditary renal hypouricemia MONDO:0009071;Disorders of purine metabolism Abnormality of metabolism/homeostasis;HP:0001939 19926891;19026395;25966807;21256783;21810765 False 3 100;0;0 8.460 False ENSG00000109667 ENSG00000109667 HGNC:13446 SLC30A10 gene SLC30A10 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hypermanganesemia syndrome MONDO:0013208;Disorders of magnesium metabolism Abnormality of metabolism/homeostasis;HP:0001939 22341972, 22341971, 29193034 False 3 0;0;0 8.460 False ENSG00000196660 ENSG00000196660 HGNC:25355 SLC30A10 gene SLC30A10 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Hypermanganesemia with dystonia 1, MIM# 613280" Abnormality of metabolism/homeostasis;HP:0001939 22341972 False 3 100;0;0 8.460 True ENSG00000196660 ENSG00000196660 HGNC:25355 SLC30A2 gene SLC30A2 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Zinc deficiency, transient neonatal , MIM#608118;Disorders of zinc metabolism Abnormality of metabolism/homeostasis;HP:0001939 17065149, 22733820, 32278324, 30450693, 28665435 False 3 0;0;0 8.460 False ENSG00000158014 ENSG00000158014 HGNC:11013 SLC30A9 gene SLC30A9 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Birk-Landau-Perez syndrome (MIM#617595);Disorders of zinc metabolism Abnormality of metabolism/homeostasis;HP:0001939 37041080 False 3 0;0;0 8.460 False ENSG00000014824 ENSG00000014824 HGNC:1329 SLC33A1 gene SLC33A1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of copper metabolism;Huppke-Brendel syndrome MONDO:0013772 Abnormality of metabolism/homeostasis;HP:0001939 31194315 False 3 0;0;0 8.460 False ENSG00000169359 ENSG00000169359 HGNC:95 SLC35A1 gene SLC35A1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIf, MIM# 603585 Abnormality of metabolism/homeostasis;HP:0001939 28856833;23873973;11157507 False 3 100;0;0 8.460 True ENSG00000164414 ENSG00000164414 HGNC:11021 SLC35A2 gene SLC35A2 Expert Review Green;Victorian Clinical Genetics Services 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) Congenital disorder of glycosylation, type IIm (MIM #300896) Abnormality of metabolism/homeostasis;HP:0001939 23561849;24115232;27743886;25778940;30817854 False 3 100;0;0 8.460 True ENSG00000102100 ENSG00000102100 HGNC:11022 SLC35A3 gene SLC35A3 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, mental retardation, and seizures OMIM #615553;Skeletal dysplasia;Congenital disorder of glycosylation Abnormality of metabolism/homeostasis;HP:0001939 28328131;24031089;28777481 False 3 100;0;0 8.460 True ENSG00000117620 ENSG00000117620 HGNC:11023 SLC35C1 gene SLC35C1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953 Abnormality of metabolism/homeostasis;HP:0001939 11326279;12116250;33098347;32313197;24403049 False 3 100;0;0 8.460 True ENSG00000181830 ENSG00000181830 HGNC:20197 SLC35D1 gene SLC35D1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Schneckenbecken dysplasia 269250, MONDO:0010013;O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) Abnormality of metabolism/homeostasis;HP:0001939 17952091;19508970;31423530 False 3 100;0;0 8.460 True ENSG00000116704 ENSG00000116704 HGNC:20800 SLC37A4 gene SLC37A4 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital disorder of glycosylation, type IIw, MIM# 619525 Abnormality of metabolism/homeostasis;HP:0001939 32884905;33728255 False 3 50;25;25 8.460 True ENSG00000137700 ENSG00000137700 HGNC:4061 SLC37A4 gene SLC37A4 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ib (MIM#232220);Glycogen storage disease Ic (MIM#232240) Abnormality of metabolism/homeostasis;HP:0001939 28224773;31508908;32005221 False 3 100;0;0 8.460 True ENSG00000137700 ENSG00000137700 HGNC:4061 SLC38A8 gene SLC38A8 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216 Abnormality of metabolism/homeostasis;HP:0001939 32744312;24290379;24045842;25451601;24290379 False 3 100;0;0 8.460 True ENSG00000166558 ENSG00000166558 HGNC:32434 SLC39A13 gene SLC39A13 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, spondylocheirodysplastic type MONDO:0012873;Disorders of zinc metabolism Abnormality of metabolism/homeostasis;HP:0001939 18985159, 18513683 False 3 0;0;0 8.460 False ENSG00000165915 ENSG00000165915 HGNC:20859 SLC39A14 gene SLC39A14 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hypermanganesemia with dystonia 2 MONDO:0014864;Disorders of magnesium metabolism Abnormality of metabolism/homeostasis;HP:0001939 27231142, 29685658 False 3 0;0;0 8.460 False ENSG00000104635 ENSG00000104635 HGNC:20858 SLC39A14 gene SLC39A14 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Hypermanganesemia with dystonia 2, MIM# 617013" Abnormality of metabolism/homeostasis;HP:0001939 27231142;29685658 False 3 100;0;0 8.460 True ENSG00000104635 ENSG00000104635 HGNC:20858 SLC39A4 gene SLC39A4 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Acrodermatitis enteropathica MIM#201100;(Disorder of zinc metabolism) Abnormality of metabolism/homeostasis;HP:0001939 27604308;12068297 False 3 100;0;0 8.460 True ENSG00000147804 ENSG00000147804 HGNC:17129 SLC39A4 gene SLC39A4 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal acrodermatitis enteropathica MONDO:0008713;Disorders of zinc metabolism Abnormality of metabolism/homeostasis;HP:0001939 19370757 False 3 0;0;0 8.460 False ENSG00000147804 ENSG00000147804 HGNC:17129 SLC39A8 gene SLC39A8 Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIn , MIM#16721 Abnormality of metabolism/homeostasis;HP:0001939 26637978;26637979 False 3 100;0;0 8.460 True ENSG00000138821 ENSG00000138821 HGNC:20862 SLC39A8 gene SLC39A8 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal SLC39A8-CDG MONDO:0014746;Other disorders of trace element metabolism Abnormality of metabolism/homeostasis;HP:0001939 26637978, 26637979 False 3 0;0;0 8.460 False ENSG00000138821 ENSG00000138821 HGNC:20862 SLC3A1 gene SLC3A1 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal cystinuria MONDO:0009067 Abnormality of metabolism/homeostasis;HP:0001939 8054986;16374432;8486766 False 3 100;0;0 8.460 True ENSG00000138079 ENSG00000138079 HGNC:11025 SLC40A1 gene SLC40A1 Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hemochromatosis, type 4, MIM# 606069 Abnormality of metabolism/homeostasis;HP:0001939 34601591;33341511;2258529 False 3 100;0;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 ENSG00000138449 ENSG00000138449 HGNC:10909 SLC40A1 gene SLC40A1 NHS Genomic Medicine Service;Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 606069 HEMOCHROMATOSIS, TYPE 4;HFE4;606069 Hemochromatosis, type 4 Abnormality of metabolism/homeostasis;HP:0001939 16351644;11431687 False 3 0;0;0 8.460 False ENSG00000138449 ENSG00000138449 HGNC:10909 SLC46A1 gene SLC46A1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hereditary folate malabsorption MONDO:0009238;Disorders of folate metabolism Abnormality of metabolism/homeostasis;HP:0001939 17129779;7446347;21333572 False 3 0;0;0 8.460 False ENSG00000076351 ENSG00000076351 HGNC:30521 SLC46A1 gene SLC46A1 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Folate malabsorption, hereditary, MIM# 229050" Abnormality of metabolism/homeostasis;HP:0001939 17446347;17129779;21333572 False 3 100;0;0 8.460 True ENSG00000076351 ENSG00000076351 HGNC:30521 SLC52A2 gene SLC52A2 Expert Review Green;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2 MIM#614707 Abnormality of metabolism/homeostasis;HP:0001939 29053833;29193829 False 3 100;0;0 8.460 True ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A2 gene SLC52A2 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-van Laere syndrome 2 MONDO:0013867;Disorders of riboflavin metabolism Abnormality of metabolism/homeostasis;HP:0001939 26973221 False 3 0;0;0 8.460 False ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A2 gene SLC52A2 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Brown-Vialetto-Van Laere syndrome 2, MIM# 614707" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert Review Green;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 1 MIM#211530 Abnormality of metabolism/homeostasis;HP:0001939 29053833;29193829 False 3 100;0;0 8.460 True ENSG00000101276 ENSG00000101276 HGNC:16187 SLC52A3 gene SLC52A3 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Brown-Vialetto-Van Laere syndrome 1, MIM# 211530" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000101276 ENSG00000101276 HGNC:16187 SLC52A3 gene SLC52A3 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of riboflavin metabolism;Brown-Vialetto-van Laere syndrome 1 MONDO:0024537 Abnormality of metabolism/homeostasis;HP:0001939 26973221 False 3 0;0;0 8.460 False ENSG00000101276 ENSG00000101276 HGNC:16187 SLC5A1 gene SLC5A1 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glucose/galactose malabsorption MIM# 606824;(Disorders of glucose transport) Abnormality of metabolism/homeostasis;HP:0001939 27604308;2008213;8195156;20486940 False 3 100;0;0 8.460 True ENSG00000100170 ENSG00000100170 HGNC:11036 SLC5A6 gene SLC5A6 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973 Abnormality of metabolism/homeostasis;HP:0001939 29669219;23104561;31754459;27904971;31392107 False 3 100;0;0 8.460 True ENSG00000138074 ENSG00000138074 HGNC:11041 SLC6A1 gene SLC6A1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myoclonic-atonic epilepsy MONDO:0014633 Abnormality of metabolism/homeostasis;HP:0001939 34028503 False 3 0;0;0 8.460 False ENSG00000157103 ENSG00000157103 HGNC:11042 SLC6A19 gene SLC6A19 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hartnup disorder, MIM# 234500;Hyperglycinuria, MIM# 138500;Iminoglycinuria, MIM# 242600" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000174358 ENSG00000174358 HGNC:27960 SLC6A19 gene SLC6A19 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hartnup disease MONDO:0009324 Abnormality of metabolism/homeostasis;HP:0001939 15286787;15286788;18484095 False 3 100;0;0 8.460 True ENSG00000174358 ENSG00000174358 HGNC:27960 SLC6A3 gene SLC6A3 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Parkinsonism-dystonia, infantile, 1, MIM# 613135 Abnormality of metabolism/homeostasis;HP:0001939 21112253 False 3 100;0;0 8.460 True ENSG00000142319 ENSG00000142319 HGNC:11049 SLC6A5 gene SLC6A5 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 3, MIM# 614618 Abnormality of metabolism/homeostasis;HP:0001939 16751771 False 3 100;0;0 8.460 True ENSG00000165970 ENSG00000165970 HGNC:11051 SLC6A8 gene SLC6A8 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Cerebral creatine deficiency syndrome 1, MIM# 300352" Abnormality of metabolism/homeostasis;HP:0001939 27604308;16738945 False 3 100;0;0 8.460 True ENSG00000130821 ENSG00000130821 HGNC:11055 SLC6A8 gene SLC6A8 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females creatine transporter deficiency MONDO:0010305 Abnormality of metabolism/homeostasis;HP:0001939 27604308;16738945 False 3 100;0;0 8.460 True ENSG00000130821 ENSG00000130821 HGNC:11055 SLC6A9 gene SLC6A9 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Atypical glycine encephalopathy MONDO:0015010;Glycine neurotransmitter disorders Abnormality of metabolism/homeostasis;HP:0001939 27481395;27773429;14622582;33269555 False 3 0;0;0 8.460 False ENSG00000196517 ENSG00000196517 HGNC:11056 SLC7A7 gene SLC7A7 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal lysinuric protein intolerance MONDO:0009109 Abnormality of metabolism/homeostasis;HP:0001939 10080182;10080183;15776247 False 3 100;0;0 8.460 True ENSG00000155465 ENSG00000155465 HGNC:11065 SLC7A7 gene SLC7A7 Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Lysinuric protein intolerance 222700 Abnormality of metabolism/homeostasis;HP:0001939 10080182;18716612 False 3 100;0;0 8.460 True ENSG00000155465 ENSG00000155465 HGNC:11065 SLC7A9 gene SLC7A9 Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal cystinuria MONDO:0009067 Abnormality of metabolism/homeostasis;HP:0001939 23532419;16609684;25296721;11157794;10471498 False 3 100;0;0 8.460 True ENSG00000021488 ENSG00000021488 HGNC:11067 SLCO1B1 gene SLCO1B1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Other Rotor syndrome MONDO:0009379 (MIM#237450), Disorders of bilirubin metabolism and biliary transport Abnormality of metabolism/homeostasis;HP:0001939 36964102, 33860121 False 3 0;0;0 8.460 False ENSG00000134538 ENSG00000134538 HGNC:10959 SLCO1B3 gene SLCO1B3 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Other Rotor syndrome MONDO:0009379 (MIM#237450), Disorders of bilirubin metabolism and biliary transport Abnormality of metabolism/homeostasis;HP:0001939 36964102, 33860121 False 3 0;0;0 8.460 False ENSG00000111700 ENSG00000111700 HGNC:10961 SMPD1 gene SMPD1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type A, MIM# 257200;MONDO:0009756;Niemann-Pick disease, type B, MIM# 607616;MONDO:0011871 Abnormality of metabolism/homeostasis;HP:0001939 32292456;32280632;28164782 False 3 100;0;0 8.460 True ENSG00000166311 ENSG00000166311 HGNC:11120 SMPD4 gene SMPD4 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies MIM#618622 Abnormality of metabolism/homeostasis;HP:0001939 PMID: 36732302 False 3 100;0;0 8.460 True ENSG00000136699 ENSG00000136699 HGNC:32949 SNX14 gene SNX14 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of autophagy;autosomal recessive spinocerebellar ataxia 20 MONDO:0014601 Abnormality of metabolism/homeostasis;HP:0001939 34130600;29884839 False 3 0;0;0 8.460 False ENSG00000135317 ENSG00000135317 HGNC:14977 SPATA5 gene SPATA5 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, hearing loss, and mental retardation syndrome MIM#616577 Abnormality of metabolism/homeostasis;HP:0001939 30009132;29343804 False 3 100;0;0 8.460 True ENSG00000145375 ENSG00000145375 HGNC:18119 SPG11 gene SPG11 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of autophagy;hereditary spastic paraplegia 11 MONDO:0011445 Abnormality of metabolism/homeostasis;HP:0001939 37871017;37709208;29884839 False 3 0;0;0 8.460 False ENSG00000104133 ENSG00000104133 HGNC:11226 SPG7 gene SPG7 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive, MIM# 607259;Autosomal dominant optic atrophy, MONDO:0020250 Abnormality of metabolism/homeostasis;HP:0001939 9635427;9635427;16534102;18799786;22571692;34500365;33598982;32548275;24727571 False 3 100;0;0 8.460 True ENSG00000197912 ENSG00000197912 HGNC:11237 SPR gene SPR Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994 Abnormality of metabolism/homeostasis;HP:0001939 33903016 False 3 100;0;0 8.460 True ENSG00000116096 ENSG00000116096 HGNC:11257 SPR gene SPR Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 Abnormality of metabolism/homeostasis;HP:0001939 22522443 False 3 100;0;0 8.460 True ENSG00000116096 ENSG00000116096 HGNC:11257 SPTLC1 gene SPTLC1 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400;Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)" Abnormality of metabolism/homeostasis;HP:0001939 27604308;20097765;21618344;20097765;30420926 False 3 100;0;0 8.460 True ENSG00000090054 ENSG00000090054 HGNC:11277 SPTLC2 gene SPTLC2 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Neuropathy, hereditary sensory and autonomic, type IC, MIM# 613640;Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)" Abnormality of metabolism/homeostasis;HP:0001939 27604308;20920666 False 3 100;0;0 8.460 True ENSG00000100596 ENSG00000100596 HGNC:11278 SRD5A3 gene SRD5A3 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iq, MIM# 612379;Kahrizi syndrome, MIM# 612713 Abnormality of metabolism/homeostasis;HP:0001939 32424323 False 3 100;0;0 8.460 True ENSG00000128039 ENSG00000128039 HGNC:25812 SSBP1 gene SSBP1 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Optic atrophy with or without extraocular phenotypes;Optic atrophy-13 with retinal and foveal abnormalities, MIM#165510 Abnormality of metabolism/homeostasis;HP:0001939 31298765;31479473;31550237;31550240 False 3 100;0;0 8.460 True ENSG00000106028 ENSG00000106028 HGNC:11317 SSR4 gene SSR4 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital disorder of glycosylation, type Iy, MIM#300934 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000180879 ENSG00000180879 HGNC:11326 ST3GAL3 gene ST3GAL3 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability, autosomal recessive 12 MIM# 611090 Abnormality of metabolism/homeostasis;HP:0001939 23252400;21907012;31584066 False 3 50;50;0 8.460 True ENSG00000126091 ENSG00000126091 HGNC:10866 ST3GAL5 gene ST3GAL5 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Salt and pepper developmental regression syndrome 609056;GM3 synthase deficiency, MONDO:0018274;Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) Abnormality of metabolism/homeostasis;HP:0001939 23436467;22990144;15502825;27232954;30691927;30688114;30576498 False 3 100;0;0 8.460 True ENSG00000115525 ENSG00000115525 HGNC:10872 STAB1 gene STAB1 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperferritinemia, MIM# 620729 Abnormality of metabolism/homeostasis;HP:0001939 37490907;28052375 False 3 100;0;0 8.460 True ENSG00000010327 ENSG00000010327 HGNC:18628 STAT2 gene STAT2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 44, MIM# 616636 Abnormality of metabolism/homeostasis;HP:0001939 23391734;26122121 False 3 100;0;0 8.460 True ENSG00000170581 ENSG00000170581 HGNC:11363 STAT3 gene STAT3 Expert Review Green;UKGTN Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STAT3-related early-onset multisystem autoimmune disease MONDO:0014414 Abnormality of metabolism/homeostasis;HP:0001939 25038750;25359994;38020118;30825606 False 3 100;0;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 ENSG00000168610 ENSG00000168610 HGNC:11364 STS gene STS Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Ichthyosis, X-linked 308100;Sterol metabolism disorder" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000101846 ENSG00000101846 HGNC:11425 STT3A gene STT3A Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iw, AR, OMIM #615596;Congenital disorder of glycosylation, type Iw, autosomal dominant, MIM# 619714 Abnormality of metabolism/homeostasis;HP:0001939 23842455;30701557;28424003;34653363 False 3 100;0;0 8.460 True ENSG00000134910 ENSG00000134910 HGNC:6172 SUCLA2 gene SUCLA2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUCLG1 gene SUCLG1 Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000163541 ENSG00000163541 HGNC:11449 SUMF1 gene SUMF1 Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Multiple sulfatase deficiency (MIM#272200) Abnormality of metabolism/homeostasis;HP:0001939 17360554;25885655;28566233 False 3 100;0;0 8.460 True ENSG00000144455 ENSG00000144455 HGNC:20376 SUOX gene SUOX Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal isolated sulfite oxidase deficiency MONDO:0010089 Abnormality of metabolism/homeostasis;HP:0001939 28980090 False 3 100;0;0 8.460 True ENSG00000139531 ENSG00000139531 HGNC:11460 SUOX gene SUOX Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Sulfite oxidase deficiency, MIM# 272300" Abnormality of metabolism/homeostasis;HP:0001939 9428520;15952210;31127934] False 3 100;0;0 8.460 True ENSG00000139531 ENSG00000139531 HGNC:11460 SURF1 gene SURF1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000148290 ENSG00000148290 HGNC:11474 TACO1 gene TACO1 Expert Review Green;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 8, MIM# 619052" Abnormality of metabolism/homeostasis;HP:0001939 19503089;20727754;25044680;27319982 False 3 100;0;0 8.460 True ENSG00000136463 ENSG00000136463 HGNC:24316 TALDO1 gene TALDO1 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Transaldolase deficiency , MIM#606003" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000177156 ENSG00000177156 HGNC:11559 TAMM41 gene TAMM41 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency-56 (COXPD56), MIM#620139;hypotonia;developmental delay;myopathy;ptosis Abnormality of metabolism/homeostasis;HP:0001939 35321494;29253589 False 3 100;0;0 8.460 True ENSG00000144559 ENSG00000144559 HGNC:25187 TANGO2 gene TANGO2 Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000183597 ENSG00000183597 HGNC:25439 TARS2 gene TARS2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 21, MIM# 615918 Abnormality of metabolism/homeostasis;HP:0001939 24827421;26811336;33153448;34508595 False 3 50;50;0 8.460 True ENSG00000143374 ENSG00000143374 HGNC:30740 TAT gene TAT Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal tyrosinemia type II MONDO:0010160 Abnormality of metabolism/homeostasis;HP:0001939 9544843;16917729 False 3 100;0;0 8.460 True ENSG00000198650 ENSG00000198650 HGNC:11573 TAT gene TAT Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Tyrosinemia, type II, MIM# 276600" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000198650 ENSG00000198650 HGNC:11573 TAZ gene TAZ Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000102125 ENSG00000102125 HGNC:11577 TAZ gene TAZ Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Barth syndrome, MIM# 302060 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000102125 ENSG00000102125 HGNC:11577 TAZ gene TAZ Expert Review Green;Literature;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females 3-methylglutaconic aciduria MONDO:0017359 Abnormality of metabolism/homeostasis;HP:0001939 29152456 False 3 100;0;0 8.460 True ENSG00000102125 ENSG00000102125 HGNC:11577 TBK1 gene TBK1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted frontotemporal dementia with motor neuron disease MONDO:0017161;Disorders of autophagy Abnormality of metabolism/homeostasis;HP:0001939 38168426;38517332;29884839 False 3 0;0;0 8.460 False ENSG00000183735 ENSG00000183735 HGNC:11584 TCN2 gene TCN2 Expert Review Green;Literature;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Transcobalamin II deficiency, 275350 Abnormality of metabolism/homeostasis;HP:0001939 19373259 False 3 100;0;0 8.460 True ENSG00000185339 ENSG00000185339 HGNC:11653 TECPR2 gene TECPR2 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of autophagy;hereditary spastic paraplegia 49 MONDO:0014016 Abnormality of metabolism/homeostasis;HP:0001939 33213269;34130600;29884839 False 3 0;0;0 8.460 False ENSG00000196663 ENSG00000196663 HGNC:19957 TEFM gene TEFM Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 58, MIM# 620451 Abnormality of metabolism/homeostasis;HP:0001939 36823193 False 3 100;0;0 8.460 True ENSG00000172171 ENSG00000172171 HGNC:26223 TF gene TF NHS Genomic Medicine Service;Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 209300 Atransferrinemia;209300 Atransferrinemia, Hypoferritinaemia Abnormality of metabolism/homeostasis;HP:0001939 15466165;11110675 False 3 100;0;0 8.460 False ENSG00000091513 ENSG00000091513 HGNC:11740 TFAM gene TFAM Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) MIM#617156" Abnormality of metabolism/homeostasis;HP:0001939 27448789;29021295;9500544;32399598;34647195;34647195 False 3 50;50;0 8.460 True ENSG00000108064 ENSG00000108064 HGNC:11741 TFR2 gene TFR2 NHS Genomic Medicine Service;Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 604250 Hemochromatosis, type 3;HFE3;604250 HEMOCHROMATOSIS, TYPE 3 Abnormality of metabolism/homeostasis;HP:0001939 11313241;10802645 False 3 0;0;0 8.460 False ENSG00000106327 ENSG00000106327 HGNC:11762 TFR2 gene TFR2 Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 3 604250 Abnormality of metabolism/homeostasis;HP:0001939 10802645;12130528;35065677;29985876;26029709;24055163 False 3 100;0;0 8.460 True ENSG00000106327 ENSG00000106327 HGNC:11762 TH gene TH Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Segawa syndrome, recessive , MIM#605407 Abnormality of metabolism/homeostasis;HP:0001939 17696123;11246459;10585338 False 3 100;0;0 8.460 True ENSG00000180176 ENSG00000180176 HGNC:11782 TH gene TH Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal tyrosine hydroxylase deficiency MONDO:0100064 Abnormality of metabolism/homeostasis;HP:0001939 30383639;29225908;22264700;12891655 False 3 100;0;0 8.460 True ENSG00000180176 ENSG00000180176 HGNC:11782 TIMM50 gene TIMM50 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type IX, MIM# 617698 Abnormality of metabolism/homeostasis;HP:0001939 27573165;32369862;30190335;31058414 False 3 100;0;0 8.460 True ENSG00000105197 ENSG00000105197 HGNC:23656 TIMM8A gene TIMM8A Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000126953 ENSG00000126953 HGNC:11817 TIMMDC1 gene TIMMDC1 Expert Review Green;Expert Review Green;NHS GMS;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 31 MIM#618251 Abnormality of metabolism/homeostasis;HP:0001939 28604674;30981218 False 3 33;67;0 8.460 True ENSG00000113845 ENSG00000113845 HGNC:1321 TK2 gene TK2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), MIM# 609560;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, MIM# 617069 Abnormality of metabolism/homeostasis;HP:0001939 11687801;12391347;12873860;35286480;35280287;35094997 False 3 100;0;0 8.460 True ENSG00000166548 ENSG00000166548 HGNC:11831 TMEM126A gene TMEM126A Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of complex I subunits and assembly factors;autosomal recessive optic atrophy, OPA7 type MONDO:0013069 Abnormality of metabolism/homeostasis;HP:0001939 29884839;33879611 False 3 0;0;0 8.460 False ENSG00000171202 ENSG00000171202 HGNC:25382 TMEM126B gene TMEM126B Expert Review Green;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 29, MIM# 618250 Abnormality of metabolism/homeostasis;HP:0001939 27374774;27374773 False 3 100;0;0 8.460 True ENSG00000171204 ENSG00000171204 HGNC:30883 TMEM165 gene TMEM165 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIk, MIM# 614727;TMEM165-CDG, MONDO:0013870 Abnormality of metabolism/homeostasis;HP:0001939 22683087;28323990;27401145;27008884;26238249;25609749 False 3 100;0;0 8.460 True ENSG00000134851 ENSG00000134851 HGNC:30760 TMEM173 gene TMEM173 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted STING-associated vasculopathy with onset in infancy MONDO:0014405 Abnormality of metabolism/homeostasis;HP:0001939 25029335;25401470 False 3 100;0;0 8.460 False ENSG00000184584 ENSG00000184584 HGNC:27962 TMEM199 gene TMEM199 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type IIp MIM# 616829" Abnormality of metabolism/homeostasis;HP:0001939 26833330;29321044 False 3 100;0;0 8.460 True ENSG00000244045 ENSG00000244045 HGNC:18085 TMEM5 gene TMEM5 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041, MONDO:0014022 Abnormality of metabolism/homeostasis;HP:0001939 23217329;23519211;30017359;27733679;27212206 False 3 100;0;0 8.460 True ENSG00000118600 ENSG00000118600 HGNC:13530 TMEM70 gene TMEM70 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000175606 ENSG00000175606 HGNC:26050 TMEM70 gene TMEM70 Expert Review Green;Expert Review Green;Genomics England PanelApp;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 614052" Abnormality of metabolism/homeostasis;HP:0001939 26550569;21147908;24740313 False 3 100;0;0 8.460 False ENSG00000175606 ENSG00000175606 HGNC:26050 TMPRSS6 gene TMPRSS6 NHS Genomic Medicine Service;Expert Review Green;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal IRIDA;206200 Iron-refractory iron deficiency anemia;206200 IRON-REFRACTORY IRON DEFICIENCY ANEMIA Abnormality of metabolism/homeostasis;HP:0001939 19357398;18408718 False 3 100;0;0 8.460 False ENSG00000187045 ENSG00000187045 HGNC:16517 TOP3A gene TOP3A Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, growth restriction, and increased sister chromatid exchange 2, MIM# 618097;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, MIM#618098 Abnormality of metabolism/homeostasis;HP:0001939 30057030;33631320;29290614 False 3 100;0;0 8.460 True ENSG00000177302 ENSG00000177302 HGNC:11992 TPK1 gene TPK1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000196511 ENSG00000196511 HGNC:17358 TPP1 gene TPP1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 2, MIM# 204500;MONDO:0008769;Spinocerebellar ataxia, autosomal recessive 7, MIM# 609270;MONDO:0012235 Abnormality of metabolism/homeostasis;HP:0001939 9295267;18684116;23418007;26224725;31283065 False 3 100;0;0 8.460 True ENSG00000166340 ENSG00000166340 HGNC:2073 TRAK1 gene TRAK1 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 68, MIM# 618201 Abnormality of metabolism/homeostasis;HP:0001939 28940097;28364549;29846532;28924745 False 3 100;0;0 8.460 True ENSG00000182606 ENSG00000182606 HGNC:29947 TRAPPC9 gene TRAPPC9 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Intellectual developmental disorder, autosomal recessive 13 MIM#613192" Abnormality of metabolism/homeostasis;HP:0001939 PMID: 35042660 False 3 50;50;0 8.460 True ENSG00000167632 ENSG00000167632 HGNC:30832 TREX1 gene TREX1 Expert Review Green;Expert Review Green;Expert list;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Disorder of nucleotide metabolism;Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750 Abnormality of metabolism/homeostasis;HP:0001939 21937424;17357087;16845398 False 3 100;0;0 8.460 False ENSG00000213689 ENSG00000213689 HGNC:12269 TREX1 gene TREX1 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750;Disorder of nucleotide metabolism" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000213689 ENSG00000213689 HGNC:12269 TRIM37 gene TRIM37 Victorian Clinical Genetics Services;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 0;0;0 8.460 False ENSG00000108395 ENSG00000108395 HGNC:7523 TRIT1 gene TRIT1 Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 35, MIM#617873 Abnormality of metabolism/homeostasis;HP:0001939 32088416;24901367;28185376;30977854 False 3 100;0;0 8.460 False ENSG00000043514 ENSG00000043514 HGNC:20286 TRMT10A gene TRMT10A Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, short stature, and impaired glucose metabolism 1, 616033 Abnormality of metabolism/homeostasis;HP:0001939 34541035;24204302;25053765;26297882;35137278 False 3 100;0;0 8.460 True ENSG00000145331 ENSG00000145331 HGNC:28403 TRMT10C gene TRMT10C Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000174173 ENSG00000174173 HGNC:26022 TRMT5 gene TRMT5 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 26, MIM# 616539 Abnormality of metabolism/homeostasis;HP:0001939 26189817;35342985;35109800;29021354 False 3 100;0;0 8.460 True ENSG00000126814 ENSG00000126814 HGNC:23141 TRMU gene TRMU Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000100416 ENSG00000100416 HGNC:25481 TRNT1 gene TRNT1 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000072756 ENSG00000072756 HGNC:17341 TRPM6 gene TRPM6 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 1, intestinal MONDO:0011176, Disorders of magnesium metabolism Abnormality of metabolism/homeostasis;HP:0001939 23942199 False 3 0;0;0 8.460 False ENSG00000119121 ENSG00000119121 HGNC:17995 TSFM gene TSFM Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000123297 ENSG00000123297 HGNC:12367 TTC19 gene TTC19 Expert Review Green;Expert list;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000011295 ENSG00000011295 HGNC:26006 TTPA gene TTPA Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Ataxia with isolated vitamin E deficiency MIM#277460;disorders of vitamins and cofactors Abnormality of metabolism/homeostasis;HP:0001939 27604308;7719340 False 3 100;0;0 8.460 True ENSG00000137561 ENSG00000137561 HGNC:12404 TUFM gene TUFM Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 4, OMIM #610678;MONDO:0012534 Abnormality of metabolism/homeostasis;HP:0001939 28132884;26741492;17160893;30903008 False 3 100;0;0 8.460 True ENSG00000178952 ENSG00000178952 HGNC:12420 TUSC3 gene TUSC3 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mental retardation, autosomal recessive 7, MIM# 611093, MONDO:0012615;TUSC3-CDG (Disorders of protein N-glycosylation) Abnormality of metabolism/homeostasis;HP:0001939 18452889;18455129;21739581;27148795;31606977 False 3 100;0;0 8.460 True ENSG00000104723 ENSG00000104723 HGNC:30242 TWNK gene TWNK Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245;Perrault syndrome 5 616138;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286 Abnormality of metabolism/homeostasis;HP:0001939 32234020;18593709 False 3 100;0;0 8.460 True ENSG00000107815 ENSG00000107815 HGNC:1160 TYMP gene TYMP Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 1 (MNGIE type), MIM# 603041 Abnormality of metabolism/homeostasis;HP:0001939 9924029;14757860;21933806 False 3 100;0;0 8.460 True ENSG00000025708 ENSG00000025708 HGNC:3148 TYR gene TYR Expert Review Green;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal oculocutaneous albinism type 1 MONDO:0018135 Abnormality of metabolism/homeostasis;HP:0001939 2511845;32411182;31199599;29052256 False 3 100;0;0 8.460 True ENSG00000077498 ENSG00000077498 HGNC:12442 UBIAD1 gene UBIAD1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schnyder corneal dystrophy MONDO:0007374 MIM#611632;Other disorders of vitamin metabolism Abnormality of metabolism/homeostasis;HP:0001939 18176953, 23169578, 31323021, 30785396, 30223810 False 3 0;0;0 8.460 False ENSG00000120942 ENSG00000120942 HGNC:30791 UGT1A1 gene UGT1A1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of haem degradation and bilirubin metabolism;Crigler-Najjar syndrome type 1 MONDO:0021020, Crigler-Najjar syndrome type 2 MONDO:0011725 Abnormality of metabolism/homeostasis;HP:0001939 26595536 False 3 0;0;0 8.460 False ENSG00000241635 ENSG00000241635 HGNC:12530 UGT1A1 gene UGT1A1 Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport);Crigler-Najjar syndrome, type I 218800;Crigler-Najjar syndrome, type II 606785 Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000241635 ENSG00000241635 HGNC:12530 UMPS gene UMPS Expert Review Green;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Orotic aciduria, MIM# 258900" Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 True ENSG00000114491 ENSG00000114491 HGNC:12563 UMPS gene UMPS Expert Review Green;Expert Review Green;Expert Review;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Orotic aciduria, MIM# 258900 Abnormality of metabolism/homeostasis;HP:0001939 33489760;9042911 False 3 100;0;0 8.460 False ENSG00000114491 ENSG00000114491 HGNC:12563 UNG gene UNG Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hyper-IgM syndrome type 5 MONDO:0011971;Disorders of ectonucleotide and nucleic acid metabolism Abnormality of metabolism/homeostasis;HP:0001939 12958596;23585684;32135276 False 3 100;0;0 8.460 False ENSG00000076248 ENSG00000076248 HGNC:12572 UPB1 gene UPB1 Expert Review Green;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Beta-ureidopropionase deficiency MONDO:0013164;Disorders of pyrimidine metabolism Abnormality of metabolism/homeostasis;HP:0001939 24526388;1796483;27604308;15385443;25638458;22525402 False 3 100;0;0 8.460 False ENSG00000100024 ENSG00000100024 HGNC:16297 UPB1 gene UPB1 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Beta-ureidopropionase deficiency, MIM# 613161" Abnormality of metabolism/homeostasis;HP:0001939 27604308;24526388;25638458;22525402;15385443;17964839 False 3 100;0;0 8.460 True ENSG00000100024 ENSG00000100024 HGNC:16297 UQCC2 gene UQCC2 Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000137288 ENSG00000137288 HGNC:21237 UQCRB gene UQCRB Expert Review Green;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 3, MIM# 615158 Abnormality of metabolism/homeostasis;HP:0001939 23281071;28275242;12709789;25446085;23454382 False 3 100;0;0 8.460 True ENSG00000156467 ENSG00000156467 HGNC:12582 UQCRC2 gene UQCRC2 Expert Review Green;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 5, MIM# 615160 Abnormality of metabolism/homeostasis;HP:0001939 28275242;23281071;33865955 False 3 50;50;0 8.460 True ENSG00000140740 ENSG00000140740 HGNC:12586 UQCRFS1 gene UQCRFS1 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial Complex III deficiency;lactic acidosis;fetal bradycardia;hypertrophic cardiomyopathy;alopecia totalis Abnormality of metabolism/homeostasis;HP:0001939 31883641 False 3 100;0;0 8.460 True ENSG00000169021 ENSG00000169021 HGNC:12587 UROD gene UROD Expert Review Green;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) Abnormality of metabolism/homeostasis;HP:0001939 9792863 False 3 100;0;0 8.460 True ENSG00000126088 ENSG00000126088 HGNC:12591 UROS gene UROS Expert Review Green;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Porphyrias with erosive photodermatosis;Porphyria, congenital erythropoietic 263700 Abnormality of metabolism/homeostasis;HP:0001939 8829650;28334762;27512208 False 3 100;0;0 8.460 True ENSG00000188690 ENSG00000188690 HGNC:12592 VARS2 gene VARS2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 20;OMIM #615917 Abnormality of metabolism/homeostasis;HP:0001939 24827421;25058219;29137650;29314548;31064326;31623496 False 3 100;0;0 8.460 True ENSG00000137411 ENSG00000137411 HGNC:21642 VCP gene VCP Expert Review Green Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO:0000507;Disorders of mitochondrial protein quality control Abnormality of metabolism/homeostasis;HP:0001939 29884839;35273561;37678339 False 3 0;0;0 8.460 False ENSG00000165280 ENSG00000165280 HGNC:12666 VDR gene VDR Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal vitamin D-dependent rickets, type 2A MONDO:0010186, Other disorders of vitamin metabolism Abnormality of metabolism/homeostasis;HP:0001939 2849209, 9005998, 17970811 False 3 0;0;0 8.460 False ENSG00000111424 ENSG00000111424 HGNC:12679 VIPAS39 gene VIPAS39 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404" Abnormality of metabolism/homeostasis;HP:0001939 22753090;26808426 False 3 100;0;0 8.460 True ENSG00000151445 ENSG00000151445 HGNC:20347 VKORC1 gene VKORC1 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal vitamin K-dependent clotting factors, combined deficiency of, type 2 MONDO:0011837;Other disorders of vitamin metabolism Abnormality of metabolism/homeostasis;HP:0001939 14765194 False 3 0;0;0 8.460 False ENSG00000167397 ENSG00000167397 HGNC:23663 VMA21 gene VMA21 Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Myopathy, X-linked, with excessive autophagy (MIM#310440) Abnormality of metabolism/homeostasis;HP:0001939 27916343;25809233;23315026 False 3 100;0;0 8.460 True ENSG00000160131 ENSG00000160131 HGNC:22082 VPS13C gene VPS13C Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Early-onset Parkinson disease-23, MIM# 616840 Abnormality of metabolism/homeostasis;HP:0001939 26942284 False 3 100;0;0 8.460 True ENSG00000129003 ENSG00000129003 HGNC:23594 VPS16 gene VPS16 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal mucopolysaccharidosis-like disorder, VPS16-related MONDO#0100365 Abnormality of metabolism/homeostasis;HP:0001939 33938619;34013567;34901436 False 3 100;0;0 8.460 True ENSG00000215305 ENSG00000215305 HGNC:14584 VPS33A gene VPS33A Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis-plus syndrome (MIM#617303) Abnormality of metabolism/homeostasis;HP:0001939 28013294;27547915 False 3 50;50;0 8.460 True ENSG00000139719 ENSG00000139719 HGNC:18179 VPS33B gene VPS33B Expert Review Green;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085" Abnormality of metabolism/homeostasis;HP:0001939 16896922 False 3 100;0;0 8.460 True ENSG00000184056 ENSG00000184056 HGNC:12712 WARS2 gene WARS2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship;Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 3 100;0;0 8.460 False ENSG00000116874 ENSG00000116874 HGNC:12730 WDR45 gene WDR45 Expert Review Green 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) Disorders of autophagy;X-linked complex neurodevelopmental disorder MONDO:0100148 Abnormality of metabolism/homeostasis;HP:0001939 38465922;29884839 False 3 0;0;0 8.460 False ENSG00000196998 ENSG00000196998 HGNC:28912 WDR45 gene WDR45 Expert Review Green;Expert list 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) "Neurodegeneration with brain iron accumulation 5, MIM# 300894" Abnormality of metabolism/homeostasis;HP:0001939 23176820 False 3 100;0;0 8.460 True ENSG00000196998 ENSG00000196998 HGNC:28912 WFS1 gene WFS1 NHS GMS;Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Wolfram-like syndrome, autosomal dominant, 614296;Wolfram syndrome, 222300;Deafness, autosomal dominant 6/14/38, 600965;?Cataract 41,116400;{Diabetes mellitus, noninsulin-dependent, association with}, 125853;Deafness,autosomal dominant 6/14/38, 600965;{Diabetes mellitus, noninsulin-dependent,association with};diabetes insipidus or optic atrophy Abnormality of metabolism/homeostasis;HP:0001939 27185633;27217304 False 3 100;0;0 8.460 False ENSG00000109501 ENSG00000109501 HGNC:12762 XDH gene XDH Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal xanthinuria type I MONDO:0010209;Disorders of purine metabolism Abnormality of metabolism/homeostasis;HP:0001939 32071838;29723117 False 3 100;0;0 8.460 False ENSG00000158125 ENSG00000158125 HGNC:12805 XPNPEP3 gene XPNPEP3 Expert Review Green;Other Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1 MONDO:0013163 Abnormality of metabolism/homeostasis;HP:0001939 32660933;20179356 False 3 100;0;0 8.460 True ENSG00000196236 ENSG00000196236 HGNC:28052 XYLT1 gene XYLT1 Expert Review Green;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 2, MIM# 615777;Baratela-Scott syndrome Abnormality of metabolism/homeostasis;HP:0001939 30554721;24581741;23982343 False 3 100;0;0 8.460 True ENSG00000103489 ENSG00000103489 HGNC:15516 XYLT2 gene XYLT2 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Spondyloocular syndrome MIM# 605822 Abnormality of metabolism/homeostasis;HP:0001939 26027496;26987875;30891060;28484880 False 3 100;0;0 8.460 True ENSG00000015532 ENSG00000015532 HGNC:15517 YARS2 gene YARS2 Expert Review Green;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anaemia 2 MIM# 613561;sideroblastic anaemia;muscle atrophy;myopathy;lactic acidosis;Hypertrophic cardiomyopathy;Hepatomegaly;Decreased cytochrome C oxidase activity Abnormality of metabolism/homeostasis;HP:0001939 24430573;24344687 False 3 100;0;0 8.460 True ENSG00000139131 ENSG00000139131 HGNC:24249 YIPF5 gene YIPF5 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome 2 , MIM#619278 Abnormality of metabolism/homeostasis;HP:0001939 33164986 False 3 100;0;0 8.460 True ENSG00000145817 ENSG00000145817 HGNC:24877 ZBTB20 gene ZBTB20 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primrose syndrome MONDO:0009798;Primrose syndrome (tall stature, macrocephaly, intellectual disability, disturbed behaviour, unusual facial features, diabetes, deafness, progressive muscle wasting and ectopic calcifications);Primrose syndrome, 259050 Abnormality of metabolism/homeostasis;HP:0001939 20644156;27061120;25017102;29737001;38087819;32473227;30637921;32266967 False 3 100;0;0 8.460 True ENSG00000181722 ENSG00000181722 HGNC:13503 ZFP57 gene ZFP57 Expert Review Green;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Diabetes mellitus, transient neonatal, 1, MIM#601410 Abnormality of metabolism/homeostasis;HP:0001939 18622393;27075368;23150280;30315371;35218690;28334746 False 3 100;0;0 8.460 True ENSG00000204644 ENSG00000204644 HGNC:18791 ZFYVE26 gene ZFYVE26 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Disorders of autophagy;hereditary spastic paraplegia 15 MONDO:0010044 Abnormality of metabolism/homeostasis;HP:0001939 36029068;34130600;29884839 False 3 0;0;0 8.460 False ENSG00000072121 ENSG00000072121 HGNC:20761 ZMPSTE24 gene ZMPSTE24 Expert Review Green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mandibuloacral dysplasia with type B lipodystrophy, 608612 Abnormality of metabolism/homeostasis;HP:0001939 12913070;15317753;20034068;16297189;18435794 False 3 100;0;0 8.460 False ENSG00000084073 ENSG00000084073 HGNC:12877 ZNF808 gene ZNF808 Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Pancreatic agenesis 3, MIM# 620991 Abnormality of metabolism/homeostasis;HP:0001939 PMID: 37308312 False 3 100;0;0 8.460 True ENSG00000198482 ENSG00000198482 HGNC:33230 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 A4GALT gene A4GALT Victorian Clinical Genetics Services;Expert Review Red;Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown [Blood group, P1Pk system, p phenotype], MIM# 111400 Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 False ENSG00000128274 ENSG00000128274 HGNC:18149 ABCB6 gene ABCB6 Expert Review Red Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted familial pseudohyperkalemia MONDO:0012204;Disorders of heme synthesis and porphyrias Abnormality of metabolism/homeostasis;HP:0001939 24947683 False 1 0;0;0 8.460 False ENSG00000115657 ENSG00000115657 HGNC:47 ABCD3 gene ABCD3 Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 5 (MIM#616278) Abnormality of metabolism/homeostasis;HP:0001939 25168382 False 1 0;0;100 8.460 True ENSG00000117528 ENSG00000117528 HGNC:67 ACADL gene ACADL Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Pulmonary surfactant dysfunction Abnormality of metabolism/homeostasis;HP:0001939 24591516;31399326 False 1 0;0;100 8.460 True ENSG00000115361 ENSG00000115361 HGNC:88 ACSL5 gene ACSL5 Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Diarrhoea 13, MIM# 620357" Abnormality of metabolism/homeostasis;HP:0001939 PMID: 33191500 False 1 0;0;100 8.460 True ENSG00000197142 ENSG00000197142 HGNC:16526 AGPS gene AGPS Expert Review Red Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 1, 608594 Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 False ENSG00000018510 ENSG00000018510 HGNC:327 AGXT2 gene AGXT2 Expert Review Red Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Beta-aminoisobutyric acid, urinary excretion of MIM#210100 Abnormality of metabolism/homeostasis;HP:0001939 21572414 False 1 0;0;0 8.460 False ENSG00000113492 ENSG00000113492 HGNC:14412 AKT2 gene AKT2 Expert Review Red;NHS GMS Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes mellitus, type II, 125853 Abnormality of metabolism/homeostasis;HP:0001939 17576055;15166380;17327441 False 1 0;0;100 8.460 True ENSG00000105221 ENSG00000105221 HGNC:392 ALDH1A3 gene ALDH1A3 Expert Review Red Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Isolated microphthalmia 8 MONDO:0014050;Other disorders of vitamin metabolism Abnormality of metabolism/homeostasis;HP:0001939 23312594, 23591992, 30200890 False 1 0;0;0 8.460 False ENSG00000184254 ENSG00000184254 HGNC:409 ALDOB gene ALDOB Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Fructose intolerance, hereditary, MIM# 229600 Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 True ENSG00000136872 ENSG00000136872 HGNC:417 ALG10 gene ALG10 Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, MONDO:0015286, ALG10-related Abnormality of metabolism/homeostasis;HP:0001939 33798445 False 1 0;0;100 8.460 True ENSG00000139133 ENSG00000139133 HGNC:23162 ALG2 gene ALG2 Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ii (MIM# 607906) Abnormality of metabolism/homeostasis;HP:0001939 12684507;23404334;24461433 False 1 0;0;100 8.460 True ENSG00000119523 ENSG00000119523 HGNC:23159 ALPL gene ALPL Expert review Green Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal disorder of bone metabolism;Hypophosphatasia;Disorders of pyridoxine metabolism Abnormality of metabolism/homeostasis;HP:0001939 3174660, 1409720 False 1 0;0;0 8.460 False ENSG00000162551 ENSG00000162551 HGNC:438 ALPL gene ALPL Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypophosphatasia Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 True ENSG00000162551 ENSG00000162551 HGNC:438 AMPD1 gene AMPD1 Expert Review Red;Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal adenosine monophosphate deaminase deficiency MONDO:0013028 Abnormality of metabolism/homeostasis;HP:0001939 27296017;21343608 False 1 0;0;100 8.460 False ENSG00000116748 ENSG00000116748 HGNC:468 AMPD3 gene AMPD3 Expert Review Red;Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal adenosine monophosphate deaminase deficiency MONDO:0013028 Abnormality of metabolism/homeostasis;HP:0001939 8004104;24940686;11139257 False 1 0;50;50 8.460 False ENSG00000133805 ENSG00000133805 HGNC:470 APOC3 gene APOC3 Expert Review Red;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Apolipoprotein C-III deficiency MIM#614028 Abnormality of metabolism/homeostasis;HP:0001939 PMID: 19074352 False 1 0;0;100 8.460 True ENSG00000110245 ENSG00000110245 HGNC:610 APPL1 gene APPL1 Expert Review Red;NHS GMS;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Maturity-onset diabetes of the young, type 14}, 616511;Diabetes Abnormality of metabolism/homeostasis;HP:0001939 26073777;36208030 False 1 0;0;100 8.460 True ENSG00000157500 ENSG00000157500 HGNC:24035 ARHGEF9 gene ARHGEF9 Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Epileptic encephalopathy, early infantile, 8, MIM# 300607 Abnormality of metabolism/homeostasis;HP:0001939 31942680;30048823;29130122;28620718 False 1 0;0;100 8.460 True ENSG00000131089 ENSG00000131089 HGNC:14561 ATP5F1 gene ATP5F1 Expert Review Red;Expert list Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-2 (HUMOP2), MIM#620085 Abnormality of metabolism/homeostasis;HP:0001939 36239646 False 1 0;0;100 8.460 True ENSG00000116459 ENSG00000116459 HGNC:840 ATPAF2 gene ATPAF2 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 False ENSG00000171953 ENSG00000171953 HGNC:18802 BCO1 gene BCO1 Expert Review Red Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Other disorders of vitamin metabolism;hereditary hypercarotenemia and vitamin A deficiency MONDO:0007272 Abnormality of metabolism/homeostasis;HP:0001939 17951468 False 1 0;0;0 8.460 False ENSG00000135697 ENSG00000135697 HGNC:13815 BLK gene BLK Expert Review Red;Radboud University Medical Center, Nijmegen;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Maturity-onset diabetes of the young, type 11, 613375;Maturity Onset Diabetes of the Young Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 False ENSG00000136573 ENSG00000136573 HGNC:1057 CAMLG gene CAMLG Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation type IIz, OMIM #: 620201 Abnormality of metabolism/homeostasis;HP:0001939 PMID: 35262690 False 1 0;0;100 8.460 True ENSG00000164615 ENSG00000164615 HGNC:1471 CAV1 gene CAV1 Expert Review Red Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 3, 612526;Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome Abnormality of metabolism/homeostasis;HP:0001939 18211975 False 1 0;50;50 8.460 True ENSG00000105974 ENSG00000105974 HGNC:1527 CHST8 gene CHST8 Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Peeling Skin Syndrome Abnormality of metabolism/homeostasis;HP:0001939 22289416;28204496 False 1 0;0;100 8.460 True ENSG00000124302 ENSG00000124302 HGNC:15993 CIDEC gene CIDEC Expert Review Red Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal CIDEC-related familial partial lipodystrophy MONDO:0014098 Abnormality of metabolism/homeostasis;HP:0001939 20049731 False 1 0;0;100 8.460 True ENSG00000187288 ENSG00000187288 HGNC:24229 COA3 gene COA3 Expert Review Red;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 14, MIM#619058 Abnormality of metabolism/homeostasis;HP:0001939 25604084 False 1 0;0;100 8.460 True ENSG00000183978 ENSG00000183978 HGNC:24990 COA5 gene COA5 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 Abnormality of metabolism/homeostasis;HP:0001939 21457908 False 1 0;0;100 8.460 True ENSG00000183513 ENSG00000183513 HGNC:33848 COG2 gene COG2 Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIq (MIM# 617395) Abnormality of metabolism/homeostasis;HP:0001939 24784932 False 1 0;0;100 8.460 True ENSG00000135775 ENSG00000135775 HGNC:6546 COQ5 gene COQ5 Expert Review Red;Expert list;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary 9, MIM#619028;Cerebellar ataxia;encephalopathy;generalized tonic-clonic seizures;intellectual disability Abnormality of metabolism/homeostasis;HP:0001939 29044765 False 1 0;0;100 8.460 True ENSG00000110871 ENSG00000110871 HGNC:28722 COQ9 gene COQ9 Expert Review Red;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome MONDO:0013840 Abnormality of metabolism/homeostasis;HP:0001939 19375058;26081641;31821167;11562630 False 1 0;0;100 8.460 True ENSG00000088682 ENSG00000088682 HGNC:25302 COX18 gene COX18 Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease (MONDO:0044970), COX18-related Abnormality of metabolism/homeostasis;HP:0001939 PMID:37468577 False 1 0;0;100 8.460 True ENSG00000163626 ENSG00000163626 HGNC:26801 COX4I2 gene COX4I2 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714 Abnormality of metabolism/homeostasis;HP:0001939 19268275;22730437 False 1 0;0;100 8.460 True ENSG00000131055 ENSG00000131055 HGNC:16232 COX8A gene COX8A Expert Review Red;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 15, MIM#619059 Abnormality of metabolism/homeostasis;HP:0001939 26685157 False 1 0;0;100 8.460 True ENSG00000176340 ENSG00000176340 HGNC:2294 CYBRD1 gene CYBRD1 Expert Review Red;NHS Genomic Medicine Service;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Iron metabolism disease, MONDO:0002279, CYBRD1-related Abnormality of metabolism/homeostasis;HP:0001939 15338274;27884173 False 1 0;0;100 8.460 True ENSG00000071967 ENSG00000071967 HGNC:20797 DMGDH gene DMGDH Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal dimethylglycine dehydrogenase deficiency MONDO:0011610 Abnormality of metabolism/homeostasis;HP:0001939 11231903 False 1 0;0;100 8.460 True ENSG00000132837 ENSG00000132837 HGNC:24475 DMXL2 gene DMXL2 Expert Review Red;Other Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Polyendocrine-polyneuropathy syndrome , MIM# 616113" Abnormality of metabolism/homeostasis;HP:0001939 30237576;31688942;27657680;25248098 False 1 0;0;100 8.460 True ENSG00000104093 ENSG00000104093 HGNC:2938 DSE gene DSE Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 2 (MIM# 615539) Abnormality of metabolism/homeostasis;HP:0001939 23704329 False 1 0;0;100 8.460 True ENSG00000111817 ENSG00000111817 HGNC:21144 EPHX1 gene EPHX1 Expert Review Red Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Familial hypercholanemia MONDO:0011905;Other disorders of vitamin metabolism Abnormality of metabolism/homeostasis;HP:0001939 34342583 False 1 0;0;0 8.460 False ENSG00000143819 ENSG00000143819 HGNC:3401 ERCC6L2 gene ERCC6L2 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 2, MIM#615715 Abnormality of metabolism/homeostasis;HP:0001939 29987015;24507776 False 1 0;100;0 8.460 True ENSG00000182150 ENSG00000182150 HGNC:26922 FOXC2 gene FOXC2 Radboud University Medical Center, Nijmegen;Expert Review Red Metabolic Disorders Superpanel Metabolic disorders Unknown Lymphedema-distichiasis syndrome, 153400;Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus, 153400 Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;100;0 8.460 False ENSG00000176692 ENSG00000176692 HGNC:3801 FTH1 gene FTH1 Expert Review Red;NHS Genomic Medicine Service;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Hemochromatosis, type 5, MIM# 615517" Abnormality of metabolism/homeostasis;HP:0001939 11389486 False 1 0;0;100 8.460 True ENSG00000167996 ENSG00000167996 HGNC:3976 GATB gene GATB Expert Review Red;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial cardiomyopathy Abnormality of metabolism/homeostasis;HP:0001939 30283131 False 1 0;0;100 8.460 True ENSG00000059691 ENSG00000059691 HGNC:8849 GATC gene GATC Expert Review Red;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial cardiomyopathy Abnormality of metabolism/homeostasis;HP:0001939 30283131 False 1 0;0;100 8.460 True ENSG00000257218 ENSG00000257218 HGNC:25068 GCSH gene GCSH Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy MIM#605899;Disorders of serine, glycine or glycerate metabolism Abnormality of metabolism/homeostasis;HP:0001939 1671321;27604308 False 1 0;0;100 8.460 True ENSG00000140905 ENSG00000140905 HGNC:4208 GET4 gene GET4 Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation,, type IIy MIM#620200 Abnormality of metabolism/homeostasis;HP:0001939 32395830 False 1 0;0;100 8.460 True ENSG00000239857 ENSG00000239857 HGNC:21690 GMPR gene GMPR Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted progressive external ophthalmoplegia Abnormality of metabolism/homeostasis;HP:0001939 31600844 False 1 0;100;0 8.460 True ENSG00000137198 ENSG00000137198 HGNC:4376 GNMT gene GNMT Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal glycine N-methyltransferase deficiency MONDO:0011698 Abnormality of metabolism/homeostasis;HP:0001939 11810299;14739680 False 1 0;0;100 8.460 True ENSG00000124713 ENSG00000124713 HGNC:4415 GPHN gene GPHN Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency C, MIM# 615501 Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 True ENSG00000171723 ENSG00000171723 HGNC:15465 GSTZ1 gene GSTZ1 Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal maleylacetoacetate isomerase deficiency MONDO:0060527 Abnormality of metabolism/homeostasis;HP:0001939 27876694 False 1 0;0;100 8.460 True ENSG00000100577 ENSG00000100577 HGNC:4643 HAL gene HAL Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal histidinemia MONDO:0009345 Abnormality of metabolism/homeostasis;HP:0001939 15806399 False 1 0;0;100 8.460 True ENSG00000084110 ENSG00000084110 HGNC:4806 HEPH gene HEPH Expert Review Red;NHS Genomic Medicine Service;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Iron metabolism defect Abnormality of metabolism/homeostasis;HP:0001939 30182051;30060949 False 1 0;0;100 8.460 True ENSG00000089472 ENSG00000089472 HGNC:4866 HFE gene HFE Expert Review Red;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal {Porphyria cutanea tarda, susceptibility to}, 176100;{Porphyria variegata, susceptibility to}, 176200 Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 True ENSG00000010704 ENSG00000010704 HGNC:4886 HIBADH gene HIBADH Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-hydroxyisobutyric aciduria MONDO:0009371 Abnormality of metabolism/homeostasis;HP:0001939 34176136;35174513 False 1 0;0;100 8.460 True ENSG00000106049 ENSG00000106049 HGNC:4907 HIBADH gene HIBADH Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal organic aciduria Abnormality of metabolism/homeostasis;HP:0001939 34176136 False 1 0;0;100 8.460 True ENSG00000106049 ENSG00000106049 HGNC:4907 HYKK gene HYKK Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders Unknown inborn disorder of lysine and hydroxylysine metabolism MONDO:0017351 Abnormality of metabolism/homeostasis;HP:0001939 23242558 False 1 0;0;100 8.460 True ENSG00000188266 ENSG00000188266 HGNC:34403 KIF5A gene KIF5A Expert Review Green;Expert Review Red;NHS GMS;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myoclonus, intractable, neonatal MIM#617235 Abnormality of metabolism/homeostasis;HP:0001939 27463701;27414745 False 1 50;50;0 8.460 True Other ENSG00000155980 ENSG00000155980 HGNC:6323 KLF11 gene KLF11 Expert Review Red;Expert Review;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Maturity-onset diabetes of the young, type VII, 610508;Maturity Onset Diabetes of the Young Abnormality of metabolism/homeostasis;HP:0001939 15774581;26248217;23589285;31124255;35108381 False 1 0;100;0 8.460 True ENSG00000172059 ENSG00000172059 HGNC:11811 KMO gene KMO Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal pellagra MONDO:0019975 Abnormality of metabolism/homeostasis;HP:0001939 28187857, 24189070 False 1 0;0;100 8.460 True ENSG00000117009 ENSG00000117009 HGNC:6381 LIPC gene LIPC Expert Review Red;Radboud University Medical Center, Nijmegen Metabolic Disorders Superpanel Metabolic disorders Unknown {Diabetes mellitus, noninsulin-dependent}, MIM#125853 Abnormality of metabolism/homeostasis;HP:0001939 1671786;12777476;1883393;22798447;15126514;18364377;32617858 False 1 0;0;100 8.460 True ENSG00000166035 ENSG00000166035 HGNC:6619 MAN2A2 gene MAN2A2 Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, MONDO:0015286, MAN2A2-reated Abnormality of metabolism/homeostasis;HP:0001939 36357165 False 1 0;0;100 8.460 True ENSG00000196547 ENSG00000196547 HGNC:6825 ME2 gene ME2 Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal inborn disorder of energy metabolism MONDO:0019243 Abnormality of metabolism/homeostasis;HP:0001939 39401966 False 1 0;0;100 8.460 True ENSG00000082212 ENSG00000082212 HGNC:6984 MICU2 gene MICU2 Expert Review Red;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal cognitive impairment;spasticity;white matter involvement Abnormality of metabolism/homeostasis;HP:0001939 29053821 False 1 0;0;100 8.460 True ENSG00000165487 ENSG00000165487 HGNC:31830 MIEF1 gene MIEF1 Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Optic atrophy 14 (MIM#620550) Abnormality of metabolism/homeostasis;HP:0001939 33632269 False 1 0;100;0 8.460 True ENSG00000100335 ENSG00000100335 HGNC:25979 MIEF2 gene MIEF2 Expert Review Red;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 49, MIM# 619024;Progressive muscle weakness;Exercise intolerance;Ragged red and COX negative fibres;Complex I and IV deficiency Abnormality of metabolism/homeostasis;HP:0001939 29361167 False 1 0;0;100 8.460 True ENSG00000177427 ENSG00000177427 HGNC:17920 MPST gene MPST Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders Unknown encephalopathy due to beta-mercaptolactate-cysteine disulfiduria MONDO:0009585 Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 True ENSG00000128309 ENSG00000128309 HGNC:7223 MRPL12 gene MRPL12 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Growth retardation;neurological deterioration;mitochondrial translation deficiency;Combined oxidative phosphorylation deficiency 45, MIM#618951 Abnormality of metabolism/homeostasis;HP:0001939 23603806 False 1 0;0;100 8.460 True ENSG00000262814 ENSG00000262814 HGNC:10378 MRPL42 gene MRPL42 Expert Review Red;Other Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038 Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 True ENSG00000198015 ENSG00000198015 HGNC:14493 MRPS25 gene MRPS25 Expert Review Red;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Combined oxidative phosphorylation deficiency 50, MIM# 619025;Dyskinetic cerebral palsy;Mitochondrial myopathy;Partial agenesis of the corpus callosum" Abnormality of metabolism/homeostasis;HP:0001939 31039582 False 1 0;0;100 8.460 True ENSG00000131368 ENSG00000131368 HGNC:14511 MRPS28 gene MRPS28 Expert Review Red;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Intrauterine growth retardation;developmental delay;dysmorphism;Combined oxidative phosphorylation deficiency 47, MIM618958 Abnormality of metabolism/homeostasis;HP:0001939 30566640 False 1 0;0;100 8.460 True ENSG00000147586 ENSG00000147586 HGNC:14513 MT-RNR2 gene MT-RNR2 Expert Review Red;Literature;Expert Review Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Abnormality of metabolism/homeostasis;HP:0001939 29233888 False 1 0;0;100 8.460 True ENSG00000210082 ENSG00000210082 HGNC:7471 MT-TT gene MT-TT Expert Review Red;Expert list Metabolic Disorders Superpanel Metabolic disorders MITOCHONDRIAL Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 True ENSG00000210195 ENSG00000210195 HGNC:7499 NAT8L gene NAT8L Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal N-acetylaspartate deficiency MONDO:0013549 Abnormality of metabolism/homeostasis;HP:0001939 19807691 False 1 0;0;100 8.460 True ENSG00000185818 ENSG00000185818 HGNC:26742 NAT8L gene NAT8L Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal N-acetylaspartate deficiency - MIM#614063 Abnormality of metabolism/homeostasis;HP:0001939 11310630;19807691;32275776 False 1 0;50;50 8.460 True ENSG00000185818 ENSG00000185818 HGNC:26742 NDUFAF7 gene NDUFAF7 Expert Review Red;NHS GMS Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pathologic myopia Abnormality of metabolism/homeostasis;HP:0001939 28837730 False 1 0;0;100 8.460 True ENSG00000003509 ENSG00000003509 HGNC:28816 NME3 gene NME3 Expert Review Red;Expert list Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia;Neurodegeneration;Abnormal mitochondrial dynamics Abnormality of metabolism/homeostasis;HP:0001939 30587587 False 1 0;0;100 8.460 True ENSG00000103024 ENSG00000103024 HGNC:7851 OAT gene OAT Expert Review Red;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Gyrate atrophy of choroid and retina with or without ornithinemia 258870" Abnormality of metabolism/homeostasis;HP:0001939 33068755;1618792;2220818;3339136;3417397;2916581;1737786;33463379 False 1 0;0;100 8.460 True ENSG00000065154 ENSG00000065154 HGNC:8091 OPLAH gene OPLAH Expert Review Red;Other Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 5-oxoprolinase deficiency MONDO:0009825;Disorders of glutathione metabolism Abnormality of metabolism/homeostasis;HP:0001939 27477828;27604308 False 1 0;0;100 8.460 True ENSG00000178814 ENSG00000178814 HGNC:8149 OSTC gene OSTC Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Oligosaccharyltransferase complex-congenital disorders of glycosylation Abnormality of metabolism/homeostasis;HP:0001939 PMID: 32267060 False 1 0;0;100 8.460 True ENSG00000198856 ENSG00000198856 HGNC:24448 PAPSS2 gene PAPSS2 Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Brachyolmia 4 with mild epiphyseal and metaphyseal changes MIM#612847 Abnormality of metabolism/homeostasis;HP:0001939 22791835;25594860;31461705;23633440;9771708;19474428 False 1 0;0;100 8.460 True ENSG00000198682 ENSG00000198682 HGNC:8604 PAX4 gene PAX4 Expert Review Red;Radboud University Medical Center, Nijmegen;Royal Melbourne Hospital Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Maturity-onset diabetes of the young, type IX MIM#612225 Abnormality of metabolism/homeostasis;HP:0001939 17426099;14561778;25951767;21263211 False 1 67;0;33 8.460 True ENSG00000106331 ENSG00000106331 HGNC:8618 PAX6 gene PAX6 Expert Review Red;NHS GMS Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Monogenic diabetes, MONDO:0015967, PAX6-related Abnormality of metabolism/homeostasis;HP:0001939 36202929;22153401;11756345 False 1 0;0;100 8.460 True ENSG00000007372 ENSG00000007372 HGNC:8620 PET117 gene PET117 Expert Review Red;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 19, MIM#619063;Developmental delay Abnormality of metabolism/homeostasis;HP:0001939 28386624 False 1 0;0;100 8.460 True ENSG00000232838 ENSG00000232838 HGNC:40045 PHYKPL gene PHYKPL Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal phosphohydroxylysinuria MONDO:0014008 Abnormality of metabolism/homeostasis;HP:0001939 23242558 False 1 0;0;100 8.460 True ENSG00000175309 ENSG00000175309 HGNC:28249 PIGF gene PIGF Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM# 619356 Abnormality of metabolism/homeostasis;HP:0001939 33386993 False 1 0;0;100 8.460 True ENSG00000151665 ENSG00000151665 HGNC:8962 PNPLA4 gene PNPLA4 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Abnormality of metabolism/homeostasis;HP:0001939 26741492 False 1 0;0;100 8.460 True ENSG00000006757 ENSG00000006757 HGNC:24887 POGLUT1 gene POGLUT1 Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 21 (MIM# 617232), Dowling-Degos disease 4 (MIM# 615696) Abnormality of metabolism/homeostasis;HP:0001939 27807076;24387993 False 1 0;100;0 8.460 True ENSG00000163389 ENSG00000163389 HGNC:22954 PPA1 gene PPA1 Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Galactosaemia, MONDO:0018116 Abnormality of metabolism/homeostasis;HP:0001939 37999237 False 1 0;0;100 8.460 True ENSG00000180817 ENSG00000180817 HGNC:9226 PPARG gene PPARG Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 True ENSG00000132170 ENSG00000132170 HGNC:9236 PRODH2 gene PRODH2 Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hydroxyprolinemia MONDO:0009374 Abnormality of metabolism/homeostasis;HP:0001939 27139199 False 1 0;0;100 8.460 True ENSG00000250799 ENSG00000250799 HGNC:17325 PTCD1 gene PTCD1 Expert Review Red;Expert Review Red;NHS GMS;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy Abnormality of metabolism/homeostasis;HP:0001939 25058219 False 1 0;0;100 8.460 True ENSG00000106246 ENSG00000106246 HGNC:22198 PYROXD2 gene PYROXD2 Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970 Abnormality of metabolism/homeostasis;HP:0001939 35055180 False 1 0;0;100 8.460 True ENSG00000119943 ENSG00000119943 HGNC:23517 RBP3 gene RBP3 Expert Review Red Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 66 MONDO:0014093;Other disorders of vitamin metabolism Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;0 8.460 False ENSG00000107618 ENSG00000265203 HGNC:9921 SARDH gene SARDH Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal sarcosinemia MONDO:0010008 Abnormality of metabolism/homeostasis;HP:0001939 22825317 False 1 0;0;100 8.460 True ENSG00000123453 ENSG00000123453 HGNC:10536 SDHAF2 gene SDHAF2 Expert Review Red;Victorian Clinical Genetics Services;Australian Genomics Health Alliance Mitochondrial Flagship Metabolic Disorders Superpanel Metabolic disorders Unknown Paragangliomas 2, MIM# 601650 Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 True ENSG00000167985 ENSG00000167985 HGNC:26034 SDHC gene SDHC Expert Review Red Metabolic Disorders Superpanel Metabolic disorders Unknown Mitochondrial disease MONDO:0044970 Abnormality of metabolism/homeostasis;HP:0001939 31469588;29884839 False 1 0;0;0 8.460 False ENSG00000143252 ENSG00000143252 HGNC:10682 SEC23A gene SEC23A Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Craniolenticulosutural dysplasia (MIM# 607812) Abnormality of metabolism/homeostasis;HP:0001939 16980979;21039434;16980978;27148587 False 1 0;0;100 8.460 True ENSG00000100934 ENSG00000100934 HGNC:10701 SLC10A2 gene SLC10A2 Expert Review Red Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal bile acid malabsorption, primary, 1 MONDO:0013214;Disorders of bile acid metabolism Abnormality of metabolism/homeostasis;HP:0001939 9109432 False 1 0;0;0 8.460 False ENSG00000125255 ENSG00000125255 HGNC:10906 SLC25A22 gene SLC25A22 Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 3, MIM# 609304 Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 True ENSG00000177542 ENSG00000177542 HGNC:19954 SLC27A5 gene SLC27A5 Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Bile acid-CoA ligase deficiency;Disorders of bile acid biosynthesis Abnormality of metabolism/homeostasis;HP:0001939 22089923;27604308 False 1 0;0;100 8.460 True ENSG00000083807 ENSG00000083807 HGNC:10999 SLC29A1 gene SLC29A1 Expert Review Red Metabolic Disorders Superpanel Metabolic disorders Unknown Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;0 8.460 False ENSG00000112759 ENSG00000112759 HGNC:11003 SLC36A2 gene SLC36A2 Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal iminoglycinuria MONDO:0009448 Abnormality of metabolism/homeostasis;HP:0001939 19033659;26141664 False 1 0;0;100 8.460 True ENSG00000186335 ENSG00000186335 HGNC:18762 SLC6A20 gene SLC6A20 Expert Review Red;Other Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperglycinuria MONDO:0007677 Abnormality of metabolism/homeostasis;HP:0001939 36820062;19033659;24816252 False 1 0;0;100 8.460 True ENSG00000163817 ENSG00000163817 HGNC:30927 SLC7A5 gene SLC7A5 Expert Review Red;Other Metabolic Disorders Superpanel Metabolic disorders Unknown Large neutral amino acid transporter deficiency (MIM#600182) Abnormality of metabolism/homeostasis;HP:0001939 29884839 False 1 0;0;100 8.460 True ENSG00000103257 ENSG00000103257 HGNC:11063 SLIRP gene SLIRP Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial encephalomyopathy with complex I and IV deficiency Abnormality of metabolism/homeostasis;HP:0001939 34426662 False 1 0;0;0 8.460 True ENSG00000119705 ENSG00000119705 HGNC:20495 STAP1 gene STAP1 Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial hypercholesterolemia MONDO:0005439 Abnormality of metabolism/homeostasis;HP:0001939 31809983;31996024;32208993 False 1 0;0;100 8.460 True ENSG00000035720 ENSG00000035720 HGNC:24133 STEAP3 gene STEAP3 Expert Review Red;NHS Genomic Medicine Service;Genomics England PanelApp Metabolic Disorders Superpanel Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anaemia, hypochromic microcytic, with iron overload 2 MIM# 615234 Abnormality of metabolism/homeostasis;HP:0001939 22031863;25515317;26675350 False 1 0;0;100 8.460 True ENSG00000115107 ENSG00000115107 HGNC:24592 STT3B gene STT3B Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ix 615597 Abnormality of metabolism/homeostasis;HP:0001939 23842455 False 1 0;0;100 8.460 True ENSG00000163527 ENSG00000163527 HGNC:30611 TDO2 gene TDO2 Expert Review Red;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hypertryptophanemia MIM#600627;Disorders of histidine, tryptophan or lysine metabolism Abnormality of metabolism/homeostasis;HP:0001939 28285122;27604308 False 1 0;0;100 8.460 True ENSG00000151790 ENSG00000151790 HGNC:11708 TDO2 gene TDO2 Expert Review Red;ClinGen Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal familial hypertryptophanemia MONDO:0010907 Abnormality of metabolism/homeostasis;HP:0001939 28285122 False 1 0;0;100 8.460 True ENSG00000151790 ENSG00000151790 HGNC:11708 THAP11 gene THAP11 Expert Review Red;Literature;Expert Review Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, cblC type-like, MIM# 620940;Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related Abnormality of metabolism/homeostasis;HP:0001939 28449119 False 1 0;0;100 8.460 True ENSG00000168286 ENSG00000168286 HGNC:23194 TPMT gene TPMT Expert Review Red;Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal {Thiopurines, poor metabolism of, 1} 610460 Abnormality of metabolism/homeostasis;HP:0001939 False 1 0;0;100 8.460 False ENSG00000137364 ENSG00000137364 HGNC:12014 TRIP11 gene TRIP11 Expert Review Red;Victorian Clinical Genetics Services Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Abnormality of metabolism/homeostasis;HP:0001939 29872333;20089971;30728324;30518689 False 1 0;50;50 8.460 True ENSG00000100815 ENSG00000100815 HGNC:12305 TTPA gene TTPA Expert Review green Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal familial isolated deficiency of vitamin E MONDO:0010188;Other disorders of vitamin metabolism Abnormality of metabolism/homeostasis;HP:0001939 27604308, 7719340 False 1 0;0;0 8.460 False ENSG00000137561 ENSG00000137561 HGNC:12404 XPNPEP3 gene XPNPEP3 Expert Review Red;Literature;NHS GMS Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1 MIM#613159 Abnormality of metabolism/homeostasis;HP:0001939 20179356;25778941 False 1 0;50;50 8.460 True ENSG00000196236 ENSG00000196236 HGNC:28052 GDPAG str GLS Expert Review Green;Literature Metabolic Disorders Superpanel Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412 Abnormality of metabolism/homeostasis;HP:0001939 30970188 False 3 100;0;0 8.460 True ENSG00000115419 ENSG00000115419 HGNC:4331 2 191745599 191745646 190880873 190880920 GCA 16 400