Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AASS gene AASS ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hyperlysinemia MONDO:0009388 Abnormality of amino acid metabolism;HP:0004337 23890588;10775527;27604308;23570448;35135854 False 3 100;0;0 1.134 True ENSG00000008311 ENSG00000008311 HGNC:17366 ACAD8 gene ACAD8 Expert Review Green;Literature;NHS GMS Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal isobutyryl-CoA dehydrogenase deficiency MONDO:0012648 Abnormality of amino acid metabolism;HP:0004337 29152456;34544473;12359132;17304052 False 3 100;0;0 1.134 True ENSG00000151498 ENSG00000151498 HGNC:87 ACADSB gene ACADSB Expert Review Green;Literature Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 2-methylbutyryl-CoA dehydrogenase deficiency MONDO:0012392 Abnormality of amino acid metabolism;HP:0004337 25778941;17945527;29152456 False 3 100;0;0 1.134 True ENSG00000196177 ENSG00000196177 HGNC:91 ACAT1 gene ACAT1 Expert Review Green;Literature;Victorian Clinical Genetics Services Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal beta-ketothiolase deficiency MONDO:0008760 Abnormality of amino acid metabolism;HP:0004337 29152456 False 3 100;0;0 1.134 True ENSG00000075239 ENSG00000075239 HGNC:93 ACSF3 gene ACSF3 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal combined malonic and methylmalonic acidemia MONDO:0013661 Abnormality of amino acid metabolism;HP:0004337 21785126, 26915364, 30740739, 26827111, 27604308, 21841779 False 3 100;0;0 1.134 True ENSG00000176715 ENSG00000176715 HGNC:27288 ACY1 gene ACY1 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal aminoacylase 1 deficiency MONDO:0012368 Abnormality of amino acid metabolism;HP:0004337 4997716;24117009;16465618;17562838;21414403;16274666;20480396 False 3 100;0;0 1.134 True ENSG00000243989 ENSG00000243989 HGNC:177 ADK gene ADK ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal adenosine kinase deficiency MONDO:0100255 Abnormality of amino acid metabolism;HP:0004337 21963049;26642971;33309011;27671891 False 3 100;0;0 1.134 True ENSG00000156110 ENSG00000156110 HGNC:257 AGA gene AGA ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Canavan disease MONDO:0010079 Abnormality of amino acid metabolism;HP:0004337 8252036, 20301412 False 3 100;0;0 1.134 True ENSG00000038002 ENSG00000038002 HGNC:318 AHCY gene AHCY ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0013404 Abnormality of amino acid metabolism;HP:0004337 13641268;15024124;16736098;20852937;22959829;30121674;26527160;26095522;27848944;31957987;35463910 False 3 100;0;0 1.134 True ENSG00000101444 ENSG00000101444 HGNC:343 ALDH18A1 gene ALDH18A1 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal P5CS deficiency MONDO:0100126 Abnormality of amino acid metabolism;HP:0004337 32017139;26026163;26320891 False 3 100;0;0 1.134 True ENSG00000059573 ENSG00000059573 HGNC:9722 ALDH4A1 gene ALDH4A1 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hyperprolinemia type 2 MONDO:0009401 Abnormality of amino acid metabolism;HP:0004337 2624476;13835167;4369405;8621661 False 3 100;0;0 1.134 True ENSG00000159423 ENSG00000159423 HGNC:406 ALDH6A1 gene ALDH6A1 Expert Review Green;Literature;NHS GMS Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylmalonate semialdehyde dehydrogenase deficiency MONDO:0013579 Abnormality of amino acid metabolism;HP:0004337 29152456;32151545;10947204;21863277;23835272 False 3 100;0;0 1.134 True ENSG00000119711 ENSG00000119711 HGNC:7179 ALDH7A1 gene ALDH7A1 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal pyridoxine-dependent epilepsy MONDO:0009945 Abnormality of amino acid metabolism;HP:0004337 19142996;16491085;22784480;29053735 False 3 100;0;0 1.134 True ENSG00000164904 ENSG00000164904 HGNC:877 AMT gene AMT ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal glycine encephalopathy MONDO:0011612 Abnormality of amino acid metabolism;HP:0004337 27362913;8005589;25231368;26179960;26371980;27164344;6863283;18941301 False 3 100;0;0 1.134 True ENSG00000145020 ENSG00000145020 HGNC:473 ARG1 gene ARG1 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hyperargininemia MONDO:0008814 Abnormality of amino acid metabolism;HP:0004337 16747805;23859858;1463019;1598908;12052859;23920045 False 3 100;0;0 1.134 True ENSG00000118520 ENSG00000118520 HGNC:663 ASL gene ASL ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal argininosuccinic aciduria MONDO:0008815 Abnormality of amino acid metabolism;HP:0004337 2263616;17326097;19703900;12559843;22081021 False 3 100;0;0 1.134 True ENSG00000126522 ENSG00000126522 HGNC:746 ASNS gene ASNS ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome MONDO:0014258 Abnormality of amino acid metabolism;HP:0004337 29375865;25663424;25227173;29405484;28776279;30315573 False 3 100;0;0 1.134 True ENSG00000070669 ENSG00000070669 HGNC:753 ASS1 gene ASS1 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal citrullinemia type I MONDO:0008988 Abnormality of amino acid metabolism;HP:0004337 19006241 False 3 100;0;0 1.134 True ENSG00000130707 ENSG00000130707 HGNC:758 AUH gene AUH Expert Review Green;Literature;Victorian Clinical Genetics Services Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria type 1 MONDO:0009610 Abnormality of amino acid metabolism;HP:0004337 29152456;12434311;16354225;20855850;21840233 False 3 100;0;0 1.134 True ENSG00000148090 ENSG00000148090 HGNC:890 BCAT2 gene BCAT2 Expert Review Green;NHS GMS Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hypervalinemia and hyperleucine-isoleucinemia MONDO:0100058 Abnormality of amino acid metabolism;HP:0004337 14755340;25653144;31177572 False 3 100;0;0 1.134 True ENSG00000105552 ENSG00000105552 HGNC:977 BCKDHA gene BCKDHA Expert Review Green;Victorian Clinical Genetics Services Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal maple syrup urine disease type 1A MONDO:0023691 Abnormality of amino acid metabolism;HP:0004337 29152456;34883003;34556729;34288399 False 3 100;0;0 1.134 True ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHB gene BCKDHB Expert Review Green;Victorian Clinical Genetics Services Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal maple syrup urine disease type 1B MONDO:0023692 Abnormality of amino acid metabolism;HP:0004337 29152456;34883003;34556729;34288399 False 3 100;0;0 1.134 True ENSG00000083123 ENSG00000083123 HGNC:987 BCKDK gene BCKDK Expert Review Green;NHS GMS Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal branched-chain keto acid dehydrogenase kinase deficiency MONDO:0013970 Abnormality of amino acid metabolism;HP:0004337 22956686;24449431 False 3 100;0;0 1.134 True ENSG00000103507 ENSG00000103507 HGNC:16902 CA5A gene CA5A ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency MONDO:0014332 Abnormality of amino acid metabolism;HP:0004337 24530203;26913920;23589845 False 3 100;0;0 1.134 True ENSG00000174990 ENSG00000174990 HGNC:1377 CBS gene CBS ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal classic homocystinuria MONDO:0009352 Abnormality of amino acid metabolism;HP:0004337 20301697;18987302;29398487 False 3 100;0;0 1.134 True ENSG00000160200 ENSG00000160200 HGNC:1550 CLPB gene CLPB Expert Review Green;Literature;Victorian Clinical Genetics Services Aminoacidopathy 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 amino acid metabolism;HP:0004337 29152456;25597510;34140661 False 3 100;0;0 1.134 True ENSG00000162129 ENSG00000162129 HGNC:30664 CPS1 gene CPS1 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal carbamoyl phosphate synthetase I deficiency disease MONDO:0009376 Abnormality of amino acid metabolism;HP:0004337 9862865;29801986;27834067;27150549;22173106 False 3 100;0;0 1.134 True ENSG00000021826 ENSG00000021826 HGNC:2323 CTH gene CTH ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal cystathioninuria MONDO:0009058 Abnormality of amino acid metabolism;HP:0004337 20584029;19428278;12574942 False 3 100;0;0 1.134 True ENSG00000116761 ENSG00000116761 HGNC:2501 DBT gene DBT Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal maple syrup urine disease MONDO:0009563 Abnormality of amino acid metabolism;HP:0004337 29152456;20570198 False 3 100;0;0 1.134 True ENSG00000137992 ENSG00000137992 HGNC:2698 DHTKD1 gene DHTKD1 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 2-aminoadipic 2-oxoadipic aciduria MONDO:0008774 Abnormality of amino acid metabolism;HP:0004337 26141459;25860818;23141293 False 3 100;0;0 1.134 True ENSG00000181192 ENSG00000181192 HGNC:23537 DLD gene DLD Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal pyruvate dehydrogenase E3 deficiency MONDO:0009529 Abnormality of amino acid metabolism;HP:0004337 3769994;8506365;9934985;17404228;21558426;21930696 False 3 100;0;0 1.134 True ENSG00000091140 ENSG00000091140 HGNC:2898 DNAJC12 gene DNAJC12 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hyperphenylalaninemia due to DNAJC12 deficiency MONDO:0044304 Abnormality of amino acid metabolism;HP:0004337 28132689;30179615;28892570;28794131;30139987 False 3 100;0;0 1.134 True ENSG00000108176 ENSG00000108176 HGNC:28908 DNAJC19 gene DNAJC19 Expert Review Green;Literature Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria type 5 MONDO:0012435 Abnormality of amino acid metabolism;HP:0004337 29152456;16055927;17244376;22797137 False 3 100;0;0 1.134 True ENSG00000205981 ENSG00000205981 HGNC:30528 FAH gene FAH ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal tyrosinemia type I MONDO:0010161 Abnormality of amino acid metabolism;HP:0004337 20301688;8318997;7550234;7942842;2378356;9095403;26829318 False 3 100;0;0 1.134 True ENSG00000103876 ENSG00000103876 HGNC:3579 FMO3 gene FMO3 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal trimethylaminuria MONDO:0011182 Abnormality of amino acid metabolism;HP:0004337 31317802;28649550 False 3 100;0;0 1.134 True ENSG00000007933 ENSG00000007933 HGNC:3771 GAD1 gene GAD1 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 89, MIM# 619124 Abnormality of amino acid metabolism;HP:0004337 28454995;31144778;32282878;15571623;32705143;9177246;9326630;20333300 False 3 100;0;0 1.134 True ENSG00000128683 ENSG00000128683 HGNC:4092 GAMT gene GAMT ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal guanidinoacetate methyltransferase deficiency MONDO:0012999 Abnormality of amino acid metabolism;HP:0004337 20301745;17466557;16293431;12701824;2441567 False 3 100;0;0 1.134 True ENSG00000130005 ENSG00000130005 HGNC:4136 GATM gene GATM ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal AGAT deficiency MONDO:0012996 Abnormality of amino acid metabolism;HP:0004337 26490222;23770102;12468279;27233232 False 3 100;0;0 1.134 True ENSG00000171766 ENSG00000171766 HGNC:4175 GCDH gene GCDH ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal glutaryl-CoA dehydrogenase deficiency MONDO:0009281 Abnormality of amino acid metabolism;HP:0004337 31536184, 7795610, 27476540, 31062211 False 3 100;0;0 1.134 True ENSG00000105607 ENSG00000105607 HGNC:4189 GCH1 gene GCH1 ClinGen;Expert Review Green Aminoacidopathy 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 amino acid metabolism;HP:0004337 20301681, 9749603, 10582612, 11026444, 15303002 False 3 100;0;0 1.134 True ENSG00000131979 ENSG00000131979 HGNC:4193 GCLC gene GCLC Expert Review Green;Other Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Gamma-glutamylcysteine synthetase deficiency MONDO:0009259;Disorders of glutathione metabolism Abnormality of amino acid metabolism;HP:0004337 28571779;10515893;18024385 False 3 100;0;0 1.134 True ENSG00000001084 ENSG00000001084 HGNC:4311 GCSH gene GCSH ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal glycine encephalopathy MONDO:0011612 Abnormality of amino acid metabolism;HP:0004337 33890291;36190515;33569080 False 3 100;0;0 1.134 True ENSG00000140905 ENSG00000140905 HGNC:4208 GLDC gene GLDC ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal glycine encephalopathy MONDO:0011612 Abnormality of amino acid metabolism;HP:0004337 25736695;27362913;26179960;24407464 False 3 100;0;0 1.134 True ENSG00000178445 ENSG00000178445 HGNC:4313 GLS gene GLS ClinGen;Expert Review Green Aminoacidopathy 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 amino acid metabolism;HP:0004337 29468182;30575854;30970188;16641247;30239721;37151363 False 3 50;50;0 1.134 True ENSG00000115419 ENSG00000115419 HGNC:4331 GLUD1 gene GLUD1 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hyperinsulinism-hyperammonemia syndrome MONDO:0011717 Abnormality of amino acid metabolism;HP:0004337 9571255;11214910;26759084 False 3 100;0;0 1.134 True ENSG00000148672 ENSG00000148672 HGNC:4335 GLUL gene GLUL ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal congenital brain dysgenesis due to glutamine synthetase deficiency MONDO:0012393 Abnormality of amino acid metabolism;HP:0004337 25870278;20140959;30053506 False 3 100;0;0 1.134 True ENSG00000135821 ENSG00000135821 HGNC:4341 GPX4 gene GPX4 Expert Review Green;Other Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia, Sedaghatian type MONDO:0009593;Disorders of glutathione metabolism Abnormality of amino acid metabolism;HP:0004337 24706940;32827718 False 3 100;0;0 1.134 True ENSG00000167468 ENSG00000167468 HGNC:4556 GRHPR gene GRHPR Expert Review Green;Other Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal primary hyperoxaluria type 2 MONDO:0009824;Disorders of glyoxylate and oxalate metabolism Abnormality of amino acid metabolism;HP:0004337 24116921 False 3 100;0;0 1.134 True ENSG00000137106 ENSG00000137106 HGNC:4570 GRM6 gene GRM6 Expert Review Green;Other Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal GRM6-related retinopathy MONDO:0800397 Abnormality of amino acid metabolism;HP:0004337 22008250 False 3 100;0;0 1.134 True ENSG00000113262 ENSG00000113262 HGNC:4598 GSS gene GSS ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal inherited glutathione synthetase deficiency MONDO:0017909 Abnormality of amino acid metabolism;HP:0004337 17397529 False 3 100;0;0 1.134 True ENSG00000100983 ENSG00000100983 HGNC:4624 HAAO gene HAAO ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal vertebral, cardiac, renal, and limb defects syndrome 1 MONDO:0060554 Abnormality of amino acid metabolism;HP:0004337 37499065;28792876;33942433 False 3 100;0;0 1.134 True ENSG00000162882 ENSG00000162882 HGNC:4796 HGD gene HGD ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal alkaptonuria MONDO:0008753 Abnormality of amino acid metabolism;HP:0004337 8782815;9529363;9154114;9674916 False 3 100;0;0 1.134 True ENSG00000113924 ENSG00000113924 HGNC:4892 HIBCH gene HIBCH Expert Review Green;Literature;Victorian Clinical Genetics Services Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603 Abnormality of amino acid metabolism;HP:0004337 29152456;26026795;25251209;24299452;32677093 False 3 100;0;0 1.134 True ENSG00000198130 ENSG00000198130 HGNC:4908 HMGCL gene HMGCL Expert Review Green;Literature;Victorian Clinical Genetics Services Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-hydroxy-3-methylglutaric aciduria MONDO:0009520 Abnormality of amino acid metabolism;HP:0004337 29152456;8617516 False 3 100;0;0 1.134 True ENSG00000117305 ENSG00000117305 HGNC:5005 HOGA1 gene HOGA1 Expert Review Green;Other Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal primary hyperoxaluria type 3 MONDO:0013327;Disorders of ornithine, proline and hydroxyproline metabolism Abnormality of amino acid metabolism;HP:0004337 26401545;21896830;20797690 False 3 100;0;0 1.134 True ENSG00000241935 ENSG00000241935 HGNC:25155 HPD gene HPD ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal tyrosinemia type III MONDO:0010162;hawkinsinuria MONDO:0007700 Abnormality of amino acid metabolism;HP:0004337 10942115, 11073718, 28649543, 11073718, 31342835 False 3 100;0;0 1.134 True ENSG00000158104 ENSG00000158104 HGNC:5147 IVD gene IVD Expert Review Green;Literature;Victorian Clinical Genetics Services Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal isovaleric acidemia MONDO:0009475 Abnormality of amino acid metabolism;HP:0004337 29152456;15486829 False 3 100;0;0 1.134 True ENSG00000128928 ENSG00000128928 HGNC:6186 KYNU gene KYNU ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal vertebral, cardiac, renal, and limb defects syndrome 2 MONDO:0060555 Abnormality of amino acid metabolism;HP:0004337 37499065, 28792876, 33942433, 31923704, 17334708, 34200361 False 3 100;0;0 1.134 True ENSG00000115919 ENSG00000115919 HGNC:6469 LMBRD1 gene LMBRD1 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylmalonic aciduria and homocystinuria type cblF MONDO:0010183 Abnormality of amino acid metabolism;HP:0004337 20301503;19136951;32875039;20127417;21303734 False 3 100;0;0 1.134 True ENSG00000168216 ENSG00000168216 HGNC:23038 MAT1A gene MAT1A ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methionine adenosyltransferase deficiency MONDO:0009607 Abnormality of amino acid metabolism;HP:0004337 9042912;11320206 False 3 100;0;0 1.134 True Other ENSG00000151224 ENSG00000151224 HGNC:6903 MCCC1 gene MCCC1 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950 Abnormality of amino acid metabolism;HP:0004337 29152456;31730530;27604308;11170888;36822454 False 3 100;0;0 1.134 True ENSG00000078070 ENSG00000078070 HGNC:6936 MCCC2 gene MCCC2 Expert Review Green;Literature;NHS GMS;Victorian Clinical Genetics Services Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950 Abnormality of amino acid metabolism;HP:0004337 29152456;31730530;27604308;11181649 False 3 100;0;0 1.134 True ENSG00000131844 ENSG00000131844 HGNC:6937 MCEE gene MCEE ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009615 Abnormality of amino acid metabolism;HP:0004337 16697227;17823972;27699154;29104221;30682498;31146325 False 3 100;0;0 1.134 True ENSG00000124370 ENSG00000124370 HGNC:16732 MMAA gene MMAA Expert Review Green;Literature;Victorian Clinical Genetics Services Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylmalonic aciduria, cblA type MONDO:0009613 Abnormality of amino acid metabolism;HP:0004337 29152456 False 3 100;0;0 1.134 True ENSG00000151611 ENSG00000151611 HGNC:18871 MMAB gene MMAB Expert Review Green;Literature;Victorian Clinical Genetics Services Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylmalonic aciduria, cblB type MONDO:0009614 Abnormality of amino acid metabolism;HP:0004337 29152456 False 3 100;0;0 1.134 True ENSG00000139428 ENSG00000139428 HGNC:19331 MMACHC gene MMACHC ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylmalonic aciduria and homocystinuria type cblC MONDO:0010184 Abnormality of amino acid metabolism;HP:0004337 26149271;28693988;18164228;16963011;30157807;16311595;23580368 False 3 100;0;0 1.134 True ENSG00000132763 ENSG00000132763 HGNC:24525 MMADHC gene MMADHC Expert Review Green;Literature;NHS GMS Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylmalonic aciduria and homocystinuria type cblD MONDO:0010185 Abnormality of amino acid metabolism;HP:0004337 29152456;27604308;18385497 False 3 100;0;0 1.134 True ENSG00000168288 ENSG00000168288 HGNC:25221 MTHFR gene MTHFR ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353 Abnormality of amino acid metabolism;HP:0004337 26872964 False 3 100;0;0 1.134 True ENSG00000177000 ENSG00000177000 HGNC:7436 MTR gene MTR ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylcobalamin deficiency type cblG MONDO:0009609 Abnormality of amino acid metabolism;HP:0004337 12068375;30651581;31951343 False 3 100;0;0 1.134 True ENSG00000116984 ENSG00000116984 HGNC:7468 MTRR gene MTRR ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylcobalamin deficiency type cblE MONDO:0009354 Abnormality of amino acid metabolism;HP:0004337 10484769;12555939;15714522;17369066 False 3 100;0;0 1.134 True ENSG00000124275 ENSG00000124275 HGNC:7473 MUT gene MUT Expert Review Green;Literature;Victorian Clinical Genetics Services Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612 Abnormality of amino acid metabolism;HP:0004337 29152456;1977311;11528502;12948746 False 3 100;0;0 1.134 True ENSG00000146085 ENSG00000146085 HGNC:7526 NAGS gene NAGS ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:0009377 Abnormality of amino acid metabolism;HP:0004337 15714518;27037498;22503289 False 3 100;0;0 1.134 True ENSG00000161653 ENSG00000161653 HGNC:17996 NFE2L2 gene NFE2L2 Expert Review Green;Other Aminoacidopathy Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, developmental delay, and hypohomocysteinemia MONDO:0060591;Disorders of glutathione metabolism Abnormality of amino acid metabolism;HP:0004337 29018201 False 3 100;0;0 1.134 True ENSG00000116044 ENSG00000116044 HGNC:7782 OAT gene OAT ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal ornithine aminotransferase deficiency MONDO:0009796 Abnormality of amino acid metabolism;HP:0004337 609808;23076989;24429551;25264521 False 3 100;0;0 1.134 True ENSG00000065154 ENSG00000065154 HGNC:8091 OPA3 gene OPA3 Expert Review Green;Literature;Victorian Clinical Genetics Services Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria type 3 MONDO:0009787 Abnormality of amino acid metabolism;HP:0004337 29152456 False 3 100;0;0 1.134 False ENSG00000125741 ENSG00000125741 HGNC:8142 OTC gene OTC Expert Review Green;Other Aminoacidopathy 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 amino acid metabolism;HP:0004337 26059767 False 3 100;0;0 1.134 True ENSG00000036473 ENSG00000036473 HGNC:8512 PAH gene PAH ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal phenylketonuria MONDO:0009861 Abnormality of amino acid metabolism;HP:0004337 1301187, 13138177 False 3 100;0;0 1.134 True ENSG00000171759 ENSG00000171759 HGNC:8582 PCBD1 gene PCBD1 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal pterin-4 alpha-carbinolamine dehydratase 1 deficiency MONDO:0009908 Abnormality of amino acid metabolism;HP:0004337 19234759 False 3 100;0;0 1.134 True ENSG00000166228 ENSG00000166228 HGNC:8646 PCCA gene PCCA Expert Review Green;Literature Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal propionic acidemia MONDO:0011628 Abnormality of amino acid metabolism;HP:0004337 29152456;17966092;10101253;9887338 False 3 100;0;0 1.134 True ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB Expert Review Green;Literature Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal propionic acidemia MONDO:0011628 Abnormality of amino acid metabolism;HP:0004337 29152456;7386459;9683601;10502773 False 3 100;0;0 1.134 True ENSG00000114054 ENSG00000114054 HGNC:8654 PEPD gene PEPD Expert Review Green;Other Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Prolidase deficiency MONDO:0008221 Abnormality of amino acid metabolism;HP:0004337 2365824;19308961;16470701 False 3 100;0;0 1.134 True ENSG00000124299 ENSG00000124299 HGNC:8840 PHGDH gene PHGDH ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal neurometabolic disorder due to serine deficiency MONDO:0018162 Abnormality of amino acid metabolism;HP:0004337 37347880;19235232;24836451;28440900;22393170;25913727 False 3 100;0;0 1.134 False ENSG00000092621 ENSG00000092621 HGNC:8923 PRODH gene PRODH ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hyperprolinemia type 1 MONDO:0009400 Abnormality of amino acid metabolism;HP:0004337 12217952 False 3 100;0;0 1.134 True ENSG00000100033 ENSG00000100033 HGNC:9453 PSAT1 gene PSAT1 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal neurometabolic disorder due to serine deficiency MONDO:0018162 Abnormality of amino acid metabolism;HP:0004337 26610677;12633500;27626380;32077105 False 3 100;0;0 1.134 True ENSG00000135069 ENSG00000135069 HGNC:19129 PSPH gene PSPH ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal neurometabolic disorder due to serine deficiency MONDO:0018162 Abnormality of amino acid metabolism;HP:0004337 26589312, 25080166, 14673469;27604308;26888760;25152457 False 3 100;0;0 1.134 True ENSG00000146733 ENSG00000146733 HGNC:9577 PTS gene PTS ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal BH4-deficient hyperphenylalaninemia A MONDO:0009863 Abnormality of amino acid metabolism;HP:0004337 22729819;21542064;20059486 False 3 100;0;0 1.134 True ENSG00000150787 ENSG00000150787 HGNC:9689 PYCR1 gene PYCR1 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal autosomal recessive cutis laxa type 2B MONDO:0013051 Abnormality of amino acid metabolism;HP:0004337 19576563;19648921 False 3 100;0;0 1.134 True ENSG00000183010 ENSG00000183010 HGNC:9721 PYCR2 gene PYCR2 Expert Review Green;Other Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hypomyelinating leukodystrophy 10 MONDO:0014632;Disorders of ornithine, proline and hydroxyproline metabolism Abnormality of amino acid metabolism;HP:0004337 25865492;27130255 False 3 100;0;0 1.134 True ENSG00000143811 ENSG00000143811 HGNC:30262 QDPR gene QDPR ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal dihydropteridine reductase deficiency MONDO:0009862 Abnormality of amino acid metabolism;HP:0004337 14114862;3033643;11153907;9341885;19099731 False 3 100;0;0 1.134 True ENSG00000151552 ENSG00000151552 HGNC:9752 SELENBP1 gene SELENBP1 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal extraoral halitosis due to methanethiol oxidase deficiency MONDO:0029144 Abnormality of amino acid metabolism;HP:0004337 29255262 False 3 100;0;0 1.134 True ENSG00000143416 ENSG00000143416 HGNC:10719 SERAC1 gene SERAC1 Expert Review Green;Literature Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0013875 Abnormality of amino acid metabolism;HP:0004337 29152456;29205472;32684373;24741715 False 3 100;0;0 1.134 True ENSG00000122335 ENSG00000122335 HGNC:21061 SHMT2 gene SHMT2 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities MONDO:0030866 Abnormality of amino acid metabolism;HP:0004337 33015733;35398349;29323231 False 3 100;0;0 1.134 True ENSG00000182199 ENSG00000182199 HGNC:10852 SLC1A2 gene SLC1A2 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted developmental and epileptic encephalopathy, 41 MONDO:0014916 Abnormality of amino acid metabolism;HP:0004337 23934111;27476654;28777935;30937933 False 3 100;0;0 1.134 True ENSG00000110436 ENSG00000110436 HGNC:10940 SLC1A3 gene SLC1A3 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted episodic ataxia type 6 MONDO:0012982 Abnormality of amino acid metabolism;HP:0004337 27829685, 16116111, 29062094, 19139306, 29208948, 29066757, 32754645, 25497598 False 3 100;0;0 1.134 True Other ENSG00000079215 ENSG00000079215 HGNC:10941 SLC1A4 gene SLC1A4 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome MONDO:0014725 Abnormality of amino acid metabolism;HP:0004337 25930971, 27711071, 29989513, 29652076, 26041762, 27193218, 30125339 False 3 100;0;0 1.134 True ENSG00000115902 ENSG00000115902 HGNC:10942 SLC25A13 gene SLC25A13 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal citrin deficiency MONDO:0016602 Abnormality of amino acid metabolism;HP:0004337 18367750;10369257;19036621;18392553;11343053;31607264 False 3 100;0;0 1.134 True ENSG00000004864 ENSG00000004864 HGNC:10983 SLC25A15 gene SLC25A15 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal ornithine translocase deficiency MONDO:0009393 (HHH Syndrome) Abnormality of amino acid metabolism;HP:0004337 25874378 False 3 100;0;0 1.134 True ENSG00000102743 ENSG00000102743 HGNC:10985 SLC25A22 gene SLC25A22 Expert Review Green;Other Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy MONDO:0100062 Abnormality of amino acid metabolism;HP:0004337 15592994;19780765;24596948 False 3 100;0;0 1.134 True ENSG00000177542 ENSG00000177542 HGNC:19954 SLC38A8 gene SLC38A8 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216 Abnormality of amino acid metabolism;HP:0004337 32744312;24290379;24045842;25451601;24290379 False 3 100;0;0 1.134 True ENSG00000166558 ENSG00000166558 HGNC:32434 SLC3A1 gene SLC3A1 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal cystinuria MONDO:0009067 Abnormality of amino acid metabolism;HP:0004337 8054986;16374432;8486766 False 3 100;0;0 1.134 True ENSG00000138079 ENSG00000138079 HGNC:11025 SLC6A19 gene SLC6A19 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hartnup disease MONDO:0009324 Abnormality of amino acid metabolism;HP:0004337 15286787;15286788;18484095 False 3 100;0;0 1.134 True ENSG00000174358 ENSG00000174358 HGNC:27960 SLC6A8 gene SLC6A8 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females creatine transporter deficiency MONDO:0010305 Abnormality of amino acid metabolism;HP:0004337 27604308;16738945 False 3 100;0;0 1.134 True ENSG00000130821 ENSG00000130821 HGNC:11055 SLC7A7 gene SLC7A7 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal lysinuric protein intolerance MONDO:0009109 Abnormality of amino acid metabolism;HP:0004337 10080182;10080183;15776247 False 3 100;0;0 1.134 True ENSG00000155465 ENSG00000155465 HGNC:11065 SLC7A9 gene SLC7A9 ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal cystinuria MONDO:0009067 Abnormality of amino acid metabolism;HP:0004337 23532419;16609684;25296721;11157794;10471498 False 3 100;0;0 1.134 True ENSG00000021488 ENSG00000021488 HGNC:11067 SPR gene SPR ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994 Abnormality of amino acid metabolism;HP:0004337 33903016 False 3 100;0;0 1.134 True ENSG00000116096 ENSG00000116096 HGNC:11257 SUOX gene SUOX ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal isolated sulfite oxidase deficiency MONDO:0010089 Abnormality of amino acid metabolism;HP:0004337 28980090 False 3 100;0;0 1.134 True ENSG00000139531 ENSG00000139531 HGNC:11460 TAT gene TAT ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal tyrosinemia type II MONDO:0010160 Abnormality of amino acid metabolism;HP:0004337 9544843;16917729 False 3 100;0;0 1.134 True ENSG00000198650 ENSG00000198650 HGNC:11573 TAZ gene TAZ Expert Review Green;Literature;Victorian Clinical Genetics Services Aminoacidopathy Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females 3-methylglutaconic aciduria MONDO:0017359 Abnormality of amino acid metabolism;HP:0004337 29152456 False 3 100;0;0 1.134 True ENSG00000102125 ENSG00000102125 HGNC:11577 TH gene TH ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal tyrosine hydroxylase deficiency MONDO:0100064 Abnormality of amino acid metabolism;HP:0004337 30383639;29225908;22264700;12891655 False 3 100;0;0 1.134 True ENSG00000180176 ENSG00000180176 HGNC:11782 TYR gene TYR ClinGen;Expert Review Green Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal oculocutaneous albinism type 1 MONDO:0018135 Abnormality of amino acid metabolism;HP:0004337 2511845;32411182;31199599;29052256 False 3 100;0;0 1.134 True ENSG00000077498 ENSG00000077498 HGNC:12442 XPNPEP3 gene XPNPEP3 Expert Review Green;Other Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1 MONDO:0013163 Abnormality of amino acid metabolism;HP:0004337 32660933;20179356 False 3 100;0;0 1.134 True ENSG00000196236 ENSG00000196236 HGNC:28052 GSR gene GSR Expert Review Amber;Other Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia due to glutathione reductase deficiency MONDO:0019531;Disorders of glutathione metabolism Abnormality of amino acid metabolism;HP:0004337 17185460;31122244 False 2 0;100;0 1.134 True ENSG00000104687 ENSG00000104687 HGNC:4623 PPM1K gene PPM1K Expert Review Amber;Victorian Clinical Genetics Services Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, mild variant MONDO:0014057 Abnormality of amino acid metabolism;HP:0004337 29152456;23086801;36706222 False 2 0;50;50 1.134 True ENSG00000163644 ENSG00000163644 HGNC:25415 SLC1A1 gene SLC1A1 ClinGen;Expert Review Amber Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal dicarboxylic aminoaciduria MONDO:0009110 Abnormality of amino acid metabolism;HP:0004337 21123949 False 2 0;100;0 1.134 True ENSG00000106688 ENSG00000106688 HGNC:10939 SLC6A6 gene SLC6A6 ClinGen;Expert Review Amber Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hypotaurinemic retinal degeneration and cardiomyopathy MONDO:0007777 Abnormality of amino acid metabolism;HP:0004337 31903486;31345061 False 2 0;100;0 1.134 True ENSG00000131389 ENSG00000131389 HGNC:11052 SUGCT gene SUGCT ClinGen;Expert Review Amber Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal glutaric acidemia type 3 MONDO:0009283 Abnormality of amino acid metabolism;HP:0004337 18926513;28766179;29421601 False 2 0;100;0 1.134 True ENSG00000175600 ENSG00000175600 HGNC:16001 UROC1 gene UROC1 ClinGen;Expert Review Amber Aminoacidopathy Metabolic disorders BIALLELIC, autosomal or pseudoautosomal urocanic aciduria MONDO:0010167 Abnormality of amino acid metabolism;HP:0004337 19304569;30619714;32439973;27391121 False 2 0;100;0 1.134 True ENSG00000159650 ENSG00000159650 HGNC:26444