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 ABCB11 gene ABCB11 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 2 MIM#601847;disorder of bile acid metabolism 9806540 False 3 100;0;0 1.60 True ENSG00000073734 ENSG00000073734 HGNC:42 ABCB4 gene ABCB4 Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Progressive familial intrahepatic cholestasis type 3, MONDO:0011214 8666348, 9419367, 26474921, 32793533, 11313315 False 3 100;0;0 1.60 True ENSG00000005471 ENSG00000005471 HGNC:45 ABHD12 gene ABHD12 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674;disorder of of endocannabinoid metabolism 20797687 False 3 100;0;0 1.60 True ENSG00000100997 ENSG00000100997 HGNC:15868 ABHD5 gene ABHD5 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Chanarin-Dorfman syndrome MIM#275630;neutral lipid storage disease with ichthyosis;lipid metabolism 30795549 False 3 100;0;0 1.60 True ENSG00000011198 ENSG00000011198 HGNC:21396 ACY1 gene ACY1 Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Aminoacylase 1 deficiency MIM#609924;disorder of amino acid metabolism 16465618;17562838;24117009 False 3 100;0;0 1.60 True ENSG00000243989 ENSG00000243989 HGNC:177 ADA gene ADA Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders 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 3475710;3684597;2783588;1680289 False 3 100;0;0 1.60 True ENSG00000196839 ENSG00000196839 HGNC:186 ADSL gene ADSL Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Adenylosuccinase deficiency MIM#103050;disorder of purine metabolism 1302001;22180458;18524658;27626380 False 3 100;0;0 1.60 True ENSG00000239900 ENSG00000239900 HGNC:291 AHCY gene AHCY Expert list;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752;disorder of methionine metabolism 28779239;26095522;20852937;15024124;27626380 False 3 100;0;0 1.60 True ENSG00000101444 ENSG00000101444 HGNC:343 AKR1D1 gene AKR1D1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 2 MIM#235555;disorder of bile acid metabolism 12970144;20522910;15030995 False 3 100;0;0 1.60 True ENSG00000122787 ENSG00000122787 HGNC:388 ALDH18A1 gene ALDH18A1 Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders 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 32221810;11092761;29754261;26026163 False 3 100;0;0 1.60 True ENSG00000059573 ENSG00000059573 HGNC:9722 ALDH3A2 gene ALDH3A2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Sjogren-Larsson syndrome MIM#270200;disorder of lipid metabolism 8528251;31273323 False 3 100;0;0 1.60 True ENSG00000072210 ENSG00000072210 HGNC:403 ALDH4A1 gene ALDH4A1 Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperprolinemia, type II MIM#239510;disorders of ornithine or proline metabolism 9700195;31884946 False 3 100;0;0 1.60 True ENSG00000159423 ENSG00000159423 HGNC:406 ALDH5A1 gene ALDH5A1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Succinic semialdehyde dehydrogenase deficiency MIM#271980;disorder of neurotransmitter metabolism 9683595;14635103;32887777 False 3 100;0;0 1.60 True ENSG00000112294 ENSG00000112294 HGNC:408 ALDH6A1 gene ALDH6A1 Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonate semialdehyde dehydrogenase deficiency MIM#614105;disorder of valine and pyrimidine metabolism 32151545;10947204;21863277;23835272 False 3 100;0;0 1.60 True ENSG00000119711 ENSG00000119711 HGNC:7179 ALDH7A1 gene ALDH7A1 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, pyridoxine-dependent MM#266100;disorder of lysine metabolism 16491085;17068770 False 3 100;0;0 1.60 True ENSG00000164904 ENSG00000164904 HGNC:877 ALDOB gene ALDOB Expert Review;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Fructose intolerance, hereditary, MIM# 229600 False 3 100;0;0 1.60 True ENSG00000136872 ENSG00000136872 HGNC:417 ALPL gene ALPL Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypophosphatasia;disorder of bone metabolism 3174660;1409720 False 3 100;0;0 1.60 True ENSG00000162551 ENSG00000162551 HGNC:438 AMT gene AMT Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy MIM#605899;disorder of glycine metabolism 8188235;10873393;11592811 False 3 100;0;0 1.60 True ENSG00000145020 ENSG00000145020 HGNC:473 ARG1 gene ARG1 Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Argininemia MIM#207800;Urea cycle disorders and inherited hyperammonaemias;disorder of arginine metabolism 2365823;1598908;29726057 False 3 100;0;0 1.60 True ENSG00000118520 ENSG00000118520 HGNC:663 ASL gene ASL Expert list;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Argininosuccinic aciduria MIM#207900;Urea cycle disorders and inherited hyperammonaemias;disorder of amino acid metabolism 2263616;12384776 False 3 100;0;0 1.60 True ENSG00000126522 ENSG00000126522 HGNC:746 ASPA gene ASPA Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Canavan disease MIM#271900;disorder of amino acid metabolism 8252036;8023850 False 3 100;0;0 1.60 True ENSG00000108381 ENSG00000108381 HGNC:756 ASS1 gene ASS1 Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Citrullinemia MIM#215700;Urea cycle disorders and inherited hyperammonaemias;disorder of amino acid metabolism 19006241 False 3 100;0;0 1.60 True ENSG00000130707 ENSG00000130707 HGNC:758 ATIC gene ATIC Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal AICA-ribosiduria due to ATIC deficiency MIM#608688;disorders of purine metabolism 15114530;32557644 False 3 100;0;0 1.60 True ENSG00000138363 ENSG00000138363 HGNC:794 ATP7A gene ATP7A Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders 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 7842019;8981948 False 3 100;0;0 1.60 True ENSG00000165240 ENSG00000165240 HGNC:869 ATP8B1 gene ATP8B1 Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 1 MIM#211600;disorder of bile acid metabolism 9500542 False 3 100;0;0 1.60 True ENSG00000081923 ENSG00000081923 HGNC:3706 BAAT gene BAAT Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Bile acid conjugation defect 1, MIM# 619232;Hypercholanemia, familial MIM#607748;disorder of bile acid metabolism 12704386;23415802 False 3 100;0;0 1.60 True ENSG00000136881 ENSG00000136881 HGNC:932 BTD gene BTD Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Biotinidase deficiency MIM#253260;disorder of biotin metabolism 7550325 False 3 100;0;0 1.60 True ENSG00000169814 ENSG00000169814 HGNC:1122 CBS gene CBS Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria, B6-responsive and nonresponsive types MIM#236200;disorder of intracellular cobalamin metabolism;metabolic disorder of sulfur metabolism 7967489 False 3 100;0;0 1.60 True ENSG00000160200 ENSG00000160200 HGNC:1550 CTSC gene CTSC Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Haim-Munk syndrome MIM#245010;Papillon-Lefevre syndrome MIM#245000;other lysosomal disorder 10581027 False 3 100;0;0 1.60 True ENSG00000109861 ENSG00000109861 HGNC:2528 CYP27A1 gene CYP27A1 Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Cerebrotendinous xanthomatosis MIM#213700;Disorders of bile acid biosynthesis" 2019602 False 3 100;0;0 1.60 True ENSG00000135929 ENSG00000135929 HGNC:2605 CYP7B1 gene CYP7B1 Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders 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 9802883;18252231;31337596 False 3 100;0;0 1.60 True ENSG00000172817 ENSG00000172817 HGNC:2652 DHCR24 gene DHCR24 Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Desmosterolosis, MONDO:0011217 11519011, 33524375, 21671375, 12457401, 29175559, 21559050, 33027564, 38239854, 30891795, 25637936 False 3 100;0;0 1.60 True ENSG00000116133 ENSG00000116133 HGNC:2859 DHCR7 gene DHCR7 Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome MIM#270400;Disorders of sterol biosynthesis 7560069;9634533 False 3 100;0;0 1.60 True ENSG00000172893 ENSG00000172893 HGNC:2860 DHODH gene DHODH Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Miller syndrome MIM#263750;Disorders of pyrimidine metabolism 19915526 False 3 100;0;0 1.60 True ENSG00000102967 ENSG00000102967 HGNC:2867 DHTKD1 gene DHTKD1 Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 2-aminoadipic 2-oxoadipic aciduria MONDO:0008774 26141459, 25860818, 23141293 False 3 100;0;0 1.60 True ENSG00000181192 ENSG00000181192 HGNC:23537 DPYD gene DPYD Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidine dehydrogenase deficiency MIM#274270;5-fluorouracil toxicity MIM#274270;Disorders of pyrimidine metabolism 8051923 False 3 100;0;0 1.60 True ENSG00000188641 ENSG00000188641 HGNC:3012 DPYS gene DPYS Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidinuria MIM#222748;Disorders of pyrimidine metabolism False 3 100;0;0 1.60 True ENSG00000147647 ENSG00000147647 HGNC:3013 EPG5 gene EPG5 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Vici syndrome MIM#242840;Congenital disorders of autophagy 23222957;26715604 False 3 100;0;0 1.60 True ENSG00000152223 ENSG00000152223 HGNC:29331 FDFT1 gene FDFT1 Expert Review;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal squalene synthase deficiency MONDO:0032566 29909962 False 3 100;0;0 1.60 True ENSG00000079459 ENSG00000079459 HGNC:3629 FMO3 gene FMO3 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Trimethylaminuria MIM#602079;Disorders and variants of other enzymes that oxidise xenobiotics 27604308;9536088 False 3 100;0;0 1.60 True ENSG00000007933 ENSG00000007933 HGNC:3771 FTCD gene FTCD Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glutamate formiminotransferase deficiency MIM#229100;Disorders of histidine, tryptophan or lysine metabolism http://iembase.com/disorder/47 False 3 100;0;0 1.60 True ENSG00000160282 ENSG00000160282 HGNC:3974 GALE gene GALE Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Galactose epimerase deficiency MIM#230350;Disorders of galactose metabolism 27604308;9700591 False 3 100;0;0 1.60 True ENSG00000117308 ENSG00000117308 HGNC:4116 GALK1 gene GALK1 Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Galactokinase deficiency with cataracts MIM#230200;Disorders of galactose metabolism 27604308;5129682 False 3 100;0;0 1.60 True ENSG00000108479 ENSG00000108479 HGNC:4118 GALM gene GALM Expert Review Green;Literature;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Galactosemia IV MIM#618881;Disorders of galactose metabolism 30451973;30910422 False 3 100;0;0 1.60 True ENSG00000143891 ENSG00000143891 HGNC:24063 GALT gene GALT Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Galactosemia MIM#230400;Disorders of galactose metabolism 27604308;2011574 False 3 100;0;0 1.60 True ENSG00000213930 ENSG00000213930 HGNC:4135 GAMT gene GAMT Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 2 MIM#612736;Disorders of creatinine metabolism 27604308;8651275 False 3 100;0;0 1.60 True ENSG00000130005 ENSG00000130005 HGNC:4136 GATM gene GATM Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 3 MIM#612718 11555793;27604308 False 3 100;0;0 1.60 False ENSG00000171766 ENSG00000171766 HGNC:4175 GCDH gene GCDH Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glutaricaciduria, type I MIM#231670;Organic acidurias 27604308;8541831;8900227 False 3 100;0;0 1.60 True ENSG00000105607 ENSG00000105607 HGNC:4189 GCLC gene GCLC Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency MIM#230450;Disorders of the gamma-glutamyl cycle 27604308;10515893;18024385;11118286;10733484;12663448 False 3 100;0;0 1.60 True ENSG00000001084 ENSG00000001084 HGNC:4311 GK gene GK Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Glycerol kinase deficiency MIM#307030;Disorders of glycerol metabolism 27604308;8499912;8651297 False 3 100;0;0 1.60 True ENSG00000198814 ENSG00000198814 HGNC:4289 GLDC gene GLDC Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy MIM#605899;Disorders of serine, glycine or glycerate metabolism 27604308;2246863;1634607 False 3 100;0;0 1.60 True ENSG00000178445 ENSG00000178445 HGNC:4313 GLS gene GLS Expert list;Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders 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 30575854;30970188;30239721 False 3 100;0;0 1.60 True ENSG00000115419 ENSG00000115419 HGNC:4331 GLUL gene GLUL Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Glutamine deficiency, congenital MIM#610015;Developmental and epileptic encephalopathy 116, MIM# 620806 16267323;21353613;33150193 False 3 100;0;0 1.60 True ENSG00000135821 ENSG00000135821 HGNC:4341 GLYCTK gene GLYCTK Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal D-glyceric aciduria MIM#220120;Disorders of serine, glycine or glycerate metabolism 20949620;31837836 False 3 100;0;0 1.60 True ENSG00000168237 ENSG00000168237 HGNC:24247 GNMT gene GNMT Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycine N-methyltransferase deficiency MIM#606664;Disorders of the metabolism of sulphur amino acids 11810299;14739680;17937387;27207470 False 3 100;0;0 1.60 True ENSG00000124713 ENSG00000124713 HGNC:4415 GPD1 gene GPD1 Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hypertriglyceridemia, transient infantile MIM#614480;glycerol-3-phosphate dehydrogenase deficiency 32591995;22226083;33447932 False 3 100;0;0 1.60 True ENSG00000167588 ENSG00000167588 HGNC:4455 GPHN gene GPHN Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency C MIM#615501;Disorders of molybdenum cofactor metabolism 27604308;11095995;22040219;9812897 False 3 100;0;0 1.60 True ENSG00000171723 ENSG00000171723 HGNC:15465 GSS gene GSS Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders 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 8896573 False 3 100;0;0 1.60 True ENSG00000100983 ENSG00000100983 HGNC:4624 HAAO gene HAAO Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660;NAD deficiency 28792876;33942433 False 3 100;0;0 1.60 True ENSG00000162882 ENSG00000162882 HGNC:4796 HGD gene HGD Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Alkaptonuria MIM#203500;Disorders of phenylalanine or tyrosine metabolism 8782815;27604308 False 3 100;0;0 1.60 True ENSG00000113924 ENSG00000113924 HGNC:4892 HPD gene HPD Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hawkinsinuria MIM#140350;Tyrosinemia, type III MIM#276710;Disorders of phenylalanine or tyrosine metabolism 10942115;11073718;27604308 False 3 100;0;0 1.60 True ENSG00000158104 ENSG00000158104 HGNC:5147 HS2ST1 gene HS2ST1 Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders 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 33159882 False 3 100;0;0 1.60 True ENSG00000153936 ENSG00000153936 HGNC:5193 HSD3B7 gene HSD3B7 Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 1 MIM#607765;Disorders of bile acid biosynthesis 11067870;27604308 False 3 100;0;0 1.60 True ENSG00000099377 ENSG00000099377 HGNC:18324 ITPA gene ITPA Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Inosine triphosphatase deficiency MIM#613850;Developmental and epileptic encephalopathy 35 MIM#616647;Disorders of purine metabolism 27604308;12384777 False 3 100;0;0 1.60 True ENSG00000125877 ENSG00000125877 HGNC:6176 KYNU gene KYNU Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders 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 17334708;28792876;31923704 False 3 100;0;0 1.60 True ENSG00000115919 ENSG00000115919 HGNC:6469 L2HGDH gene L2HGDH Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal L-2-hydroxyglutaric aciduria MIM#236792;organic acidurias 27604308;15385440 False 3 100;0;0 1.60 True ENSG00000087299 ENSG00000087299 HGNC:20499 LARS gene LARS Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Infantile liver failure syndrome 1 MIM#615438;disorder of leucine metabolism 22607940;30349989;28774368 False 3 100;0;0 1.60 True ENSG00000133706 ENSG00000133706 HGNC:6512 LBR gene LBR Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Greenberg skeletal dysplasia MIM#215140;Disorders of sterol biosynthesis 12618959;27604308 False 3 100;0;0 1.60 True ENSG00000143815 ENSG00000143815 HGNC:6518 LCT gene LCT Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Lactase deficiency, congenital MIM#223000;Other carbohydrate disorders 9758622;27604308 False 3 100;0;0 1.60 True ENSG00000115850 ENSG00000115850 HGNC:6530 LDHD gene LDHD Expert Review Green;Literature Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal D-lactic aciduria with susceptibility to gout MIM#245450 40678184 False 3 100;0;0 1.60 True ENSG00000166816 ENSG00000166816 HGNC:19708 MAT1A gene MAT1A Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders 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 27604308;7560086 False 3 100;0;0 1.60 True ENSG00000151224 ENSG00000151224 HGNC:6903 MCCC1 gene MCCC1 Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200;Organic acidurias 36822454;31730530 False 3 100;0;0 1.60 True ENSG00000078070 ENSG00000078070 HGNC:6936 MCCC2 gene MCCC2 Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210;Organic acidurias 27604308;11181649 False 3 100;0;0 1.60 True ENSG00000131844 ENSG00000131844 HGNC:6937 MCEE gene MCEE Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonyl-CoA epimerase deficiency MIM#251120;Organic acidurias 27604308;16752391;32521958;31146325;32719376;30682498 False 3 100;0;0 1.60 True ENSG00000124370 ENSG00000124370 HGNC:16732 MOCS1 gene MOCS1 Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency A MIM#252150;Disorders of molybdenum cofactor metabolism 27604308;9731530 False 3 100;0;0 1.60 True ENSG00000124615 ENSG00000124615 HGNC:7190 MOCS2 gene MOCS2 Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency B MIM#252160;Disorders of molybdenum cofactor metabolism 27604308;10053004 False 3 100;0;0 1.60 True ENSG00000164172 ENSG00000164172 HGNC:7193 MSMO1 gene MSMO1 Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834;Disorders of the metabolism of sterols;MONDO:0014793 27604308;21285510;24144731;33161406;28673550 False 3 100;0;0 1.60 True ENSG00000052802 ENSG00000052802 HGNC:10545 MTHFR gene MTHFR Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria due to MTHFR deficiency MIM#236250;Disorders of folate metabolism and transport 27604308;7920641 False 3 100;0;0 1.60 True ENSG00000177000 ENSG00000177000 HGNC:7436 MTRR gene MTRR Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anemia, cbl E type MIM#236270;Disorders of the metabolism of sulphur amino acids 27604308;9501215 False 3 100;0;0 1.60 True ENSG00000124275 ENSG00000124275 HGNC:7473 MVK gene MVK Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mevalonic aciduria MIM#610377;Disorders of sterol biosynthesis 27604308;1377680 False 3 100;0;0 1.60 True ENSG00000110921 ENSG00000110921 HGNC:7530 NSDHL gene NSDHL Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders 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 27604308;10710235 False 3 100;0;0 1.60 True ENSG00000147383 ENSG00000147383 HGNC:13398 NT5C3A gene NT5C3A Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Anemia, hemolytic, due to UMPH1 deficiency MIM#266120;disorder of pyrimidine metabolism 11369620;11369620 False 3 100;0;0 1.60 True ENSG00000122643 ENSG00000122643 HGNC:17820 OAT gene OAT Expert Review;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870 33068755;1618792;2220818;3339136;3417397;2916581;1737786;33463379 False 3 100;0;0 1.60 True ENSG00000065154 ENSG00000065154 HGNC:8091 PAH gene PAH Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Phenylketonuria MIM#261600;Disorders of phenylalanine or tyrosine metabolism 27604308;3008810 False 3 100;0;0 1.60 True ENSG00000171759 ENSG00000171759 HGNC:8582 PCK1 gene PCK1 Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Phosphoenolpyruvate carboxykinase deficiency, cytosolic MIM#261680;Disorders of gluconeogenesis 24863970;28216384;26971250;27604308 False 3 100;0;0 1.60 True ENSG00000124253 ENSG00000124253 HGNC:8724 PDXK gene PDXK Expert Review Green;Literature Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy MIM#618511;Disorders of pyridoxine metabolism 32522499;31187503;27604308 False 3 100;0;0 1.60 True ENSG00000160209 ENSG00000160209 HGNC:8819 PEPD gene PEPD Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Prolidase deficiency MIM#170100;disorders of peptide metabolism 27604308;2365824 False 3 100;0;0 1.60 True ENSG00000124299 ENSG00000124299 HGNC:8840 PHGDH gene PHGDH Expert list;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 1 256520;Phosphoglycerate dehydrogenase deficiency 601815 24836451;25152457;11055895;19235232 False 3 100;0;0 1.60 True ENSG00000092621 ENSG00000092621 HGNC:8923 PNP gene PNP Expert list;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179" 3029074;1384322;11453975;32695102;32514656 False 3 100;0;0 1.60 True ENSG00000198805 ENSG00000198805 HGNC:7892 POR gene POR Expert list;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750;Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 27604308;14758361;15793702;15220035;15483095;16470797 False 3 100;0;0 1.60 True ENSG00000127948 ENSG00000127948 HGNC:9208 PREPL gene PREPL Expert Review Green;Literature Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 22 MIM#616224;hypotonia-cystinuria syndrome;Disorders of amino acid transport 28726805;27604308 False 3 100;0;0 1.60 True ENSG00000138078 ENSG00000138078 HGNC:30228 PRODH gene PRODH Expert list;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Hyperprolinemia, type I 239500;Proline oxidase deficiency" 17412540;12217952 False 3 100;0;0 1.60 True ENSG00000100033 ENSG00000100033 HGNC:9453 PRPS1 gene PRPS1 Expert Review;Expert Review Green Miscellaneous Metabolic Disorders 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 False 3 100;0;0 1.60 True ENSG00000147224 ENSG00000147224 HGNC:9462 PSAT1 gene PSAT1 Expert list;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Phosphoserine aminotransferase deficiency MIM#610992;Neu-Laxova syndrome 2 MIM#616038 32077105 False 3 100;0;0 1.60 True ENSG00000135069 ENSG00000135069 HGNC:19129 PSPH gene PSPH Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Phosphoserine phosphatase deficiency MIM#614023;Disorders of serine, glycine or glycerate metabolism 14673469;25080166;27604308;26888760;25152457 False 3 100;0;0 1.60 True ENSG00000146733 ENSG00000146733 HGNC:9577 PYCR1 gene PYCR1 Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders 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 19576563;27604308 False 3 100;0;0 1.60 True ENSG00000183010 ENSG00000183010 HGNC:9721 RBP4 gene RBP4 Expert list;Expert Review Green Miscellaneous Metabolic Disorders 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" 9888420;23189188;25910211;32323592;29847795;29178648;27892788 False 3 100;0;0 1.60 True ENSG00000138207 ENSG00000138207 HGNC:9922 RPIA gene RPIA Expert list;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Ribose 5-phosphate isomerase deficiency, MIM# 608611;Leukoencephalopathy" 14988808;31056085;31247379 False 3 100;0;0 1.60 True ENSG00000153574 ENSG00000153574 HGNC:10297 SAR1B gene SAR1B Expert Review;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Chylomicron retention disease, MIM# 246700" 12692552 False 3 100;0;0 1.60 True ENSG00000152700 ENSG00000152700 HGNC:10535 SC5D gene SC5D Expert Review;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Lathosterolosis, MIM# 607330" 17853487;12189593;12812989;24142275 False 3 100;0;0 1.60 True ENSG00000109929 ENSG00000109929 HGNC:10547 SI gene SI Expert Review;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Sucrase-isomaltase deficiency, congenital, MIM# 222900" False 3 100;0;0 1.60 True ENSG00000090402 ENSG00000090402 HGNC:10856 SLC10A1 gene SLC10A1 Expert list;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Familial hypercholanemia-2, MIM#619256 24867799;27882152;28835676;29290974;31201272 False 3 100;0;0 1.60 True ENSG00000100652 ENSG00000100652 HGNC:10905 SLC16A1 gene SLC16A1 Expert Review;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Monocarboxylate transporter 1 deficiency, MIM# 616095" 25390740 False 3 100;0;0 1.60 True ENSG00000155380 ENSG00000155380 HGNC:10922 SLC2A1 gene SLC2A1 Expert list;Expert Review Green Miscellaneous Metabolic Disorders 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 False 3 100;0;0 1.60 True ENSG00000117394 ENSG00000117394 HGNC:11005 SLC30A10 gene SLC30A10 Expert list;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Hypermanganesemia with dystonia 1, MIM# 613280" 22341972 False 3 100;0;0 1.60 True ENSG00000196660 ENSG00000196660 HGNC:25355 SLC39A14 gene SLC39A14 Expert list;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Hypermanganesemia with dystonia 2, MIM# 617013" 27231142;29685658 False 3 100;0;0 1.60 True ENSG00000104635 ENSG00000104635 HGNC:20858 SLC39A4 gene SLC39A4 Expert list;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Acrodermatitis enteropathica MIM#201100;(Disorder of zinc metabolism) 27604308;12068297 False 3 100;0;0 1.60 True ENSG00000147804 ENSG00000147804 HGNC:17129 SLC46A1 gene SLC46A1 Expert list;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Folate malabsorption, hereditary, MIM# 229050" 17446347;17129779;21333572 False 3 100;0;0 1.60 True ENSG00000076351 ENSG00000076351 HGNC:30521 SLC5A1 gene SLC5A1 Expert list;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glucose/galactose malabsorption MIM# 606824;(Disorders of glucose transport) 27604308;2008213;8195156;20486940 False 3 100;0;0 1.60 True ENSG00000100170 ENSG00000100170 HGNC:11036 SLC5A6 gene SLC5A6 Expert list;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973 29669219;23104561;31754459;27904971;31392107 False 3 100;0;0 1.60 True ENSG00000138074 ENSG00000138074 HGNC:11041 SLC6A19 gene SLC6A19 Expert list;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hartnup disorder, MIM# 234500;Hyperglycinuria, MIM# 138500;Iminoglycinuria, MIM# 242600" False 3 100;0;0 1.60 True ENSG00000174358 ENSG00000174358 HGNC:27960 SLC6A8 gene SLC6A8 Expert list;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Cerebral creatine deficiency syndrome 1, MIM# 300352" 27604308;16738945 False 3 100;0;0 1.60 True ENSG00000130821 ENSG00000130821 HGNC:11055 SPTLC1 gene SPTLC1 Expert list;Expert Review Green Miscellaneous Metabolic Disorders 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)" 27604308;20097765;21618344;20097765;30420926 False 3 100;0;0 1.60 True ENSG00000090054 ENSG00000090054 HGNC:11277 SPTLC2 gene SPTLC2 Expert list;Expert Review Green Miscellaneous Metabolic Disorders 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)" 27604308;20920666 False 3 100;0;0 1.60 True ENSG00000100596 ENSG00000100596 HGNC:11278 STS gene STS Expert list;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Ichthyosis, X-linked 308100;Sterol metabolism disorder" False 3 100;0;0 1.60 True ENSG00000101846 ENSG00000101846 HGNC:11425 SUOX gene SUOX Expert list;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Sulfite oxidase deficiency, MIM# 272300" 9428520;15952210;31127934] False 3 100;0;0 1.60 True ENSG00000139531 ENSG00000139531 HGNC:11460 TALDO1 gene TALDO1 Expert list;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Transaldolase deficiency , MIM#606003" False 3 100;0;0 1.60 True ENSG00000177156 ENSG00000177156 HGNC:11559 TAT gene TAT Expert list;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Tyrosinemia, type II, MIM# 276600" False 3 100;0;0 1.60 True ENSG00000198650 ENSG00000198650 HGNC:11573 TREX1 gene TREX1 Expert list;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750;Disorder of nucleotide metabolism" False 3 100;0;0 1.60 True ENSG00000213689 ENSG00000213689 HGNC:12269 TTPA gene TTPA Expert Review Green;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Ataxia with isolated vitamin E deficiency MIM#277460;disorders of vitamins and cofactors 27604308;7719340 False 3 100;0;0 1.60 True ENSG00000137561 ENSG00000137561 HGNC:12404 UGT1A1 gene UGT1A1 Expert Review;Expert Review Green Miscellaneous Metabolic Disorders 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 False 3 100;0;0 1.60 True ENSG00000241635 ENSG00000241635 HGNC:12530 UMPS gene UMPS Expert Review;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Orotic aciduria, MIM# 258900" False 3 100;0;0 1.60 True ENSG00000114491 ENSG00000114491 HGNC:12563 UPB1 gene UPB1 Expert list;Expert Review Green Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Beta-ureidopropionase deficiency, MIM# 613161" 27604308;24526388;25638458;22525402;15385443;17964839 False 3 100;0;0 1.60 True ENSG00000100024 ENSG00000100024 HGNC:16297 WDR45 gene WDR45 Expert list;Expert Review Green Miscellaneous Metabolic Disorders 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" 23176820 False 3 100;0;0 1.60 True ENSG00000196998 ENSG00000196998 HGNC:28912 AASS gene AASS Expert Review Amber;NHS GMS;Victorian Clinical Genetics Services Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hyperlysinemia, MIM# 238700 23570448 False 2 0;100;0 1.60 True ENSG00000008311 ENSG00000008311 HGNC:17366 ACSF3 gene ACSF3 Expert Review Amber;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined malonic and methylmalonic aciduria MIM#614265 21841779;30740739 False 2 0;100;0 1.60 True ENSG00000176715 ENSG00000176715 HGNC:27288 CD320 gene CD320 Expert Review Amber;Literature Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646;Disorders of cobalamin absorption, transport and metabolism 29663633;27604308;30303736 False 2 100;0;0 1.60 True ENSG00000167775 ENSG00000167775 HGNC:16692 CTH gene CTH Expert Review Amber;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Cystathioninuria MIM#219500 12574942;20584029;24761004;15151507 False 2 100;0;0 1.60 True ENSG00000116761 ENSG00000116761 HGNC:2501 DCXR gene DCXR Expert Review Amber;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Pentosuria MIM#260800;Disorders of pentose metabolism 22042873 False 2 100;0;0 1.60 True ENSG00000169738 ENSG00000169738 HGNC:18985 GGT1 gene GGT1 Expert Review Amber;Literature Miscellaneous Metabolic Disorders Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Glutathioninuria MIM#231950;Disorders of the gamma-glutamyl cycle 31520399;27604308;23615310;29483667 False 2 0;100;0 1.60 True ENSG00000100031 ENSG00000100031 HGNC:4250 HAL gene HAL Expert Review Amber;Literature Miscellaneous Metabolic Disorders Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Histidinemia MIM#235800;Disorders of histidine, tryptophan or lysine metabolism 27604308;15806399;20156889 False 2 100;0;0 1.60 True ENSG00000084110 ENSG00000084110 HGNC:4806 KHK gene KHK Expert Review Amber;Literature Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Fructosuria MIM#229800;Disorders of fructose metabolism 7833921;27604308;29870677 False 2 0;100;0 1.60 True ENSG00000138030 ENSG00000138030 HGNC:6315 OPLAH gene OPLAH Expert Review Amber;NHS GMS Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal 5-oxoprolinase deficiency MIM#260005;Disorders of the gamma-glutamyl cycle 27604308;27477828 False 2 100;0;0 1.60 True ENSG00000178814 ENSG00000178814 HGNC:8149 PFAS gene PFAS Expert Review Amber;Literature Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Inborn error of metabolism, MONDO:0019052, PFAS-related 40421664 False 2 0;100;0 1.60 True ENSG00000178921 ENSG00000178921 HGNC:8863 SARDH gene SARDH Expert Review Amber;Literature Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Sarcosinemia MIM#268900;Disorders of serine, glycine or glycerate metabolism 22825317;27604308 False 2 100;0;0 1.60 True ENSG00000123453 ENSG00000123453 HGNC:10536 SHPK gene SHPK Expert Review Amber;Literature Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Sedoheptulokinase deficiency MIM#617213 25647543;27604308 False 2 0;100;0 1.60 False ENSG00000197417 ENSG00000197417 HGNC:1492 SLC1A1 gene SLC1A1 Expert Review;Expert Review Amber Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Dicarboxylic aminoaciduria, MIM#222730 21123949 False 2 0;100;0 1.60 True ENSG00000106688 ENSG00000106688 HGNC:10939 SLC36A2 gene SLC36A2 Expert Review Amber;Literature Miscellaneous Metabolic Disorders Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperglycinuria MIM#138500;Iminoglycinuria, digenic MIM#242600;Disorders of amino acid transport 19033659;26141664;27604308 False 2 100;0;0 1.60 False ENSG00000186335 ENSG00000186335 HGNC:18762 SUGCT gene SUGCT Expert Review Amber;Literature Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glutaric aciduria III MIM#231690;Organic acidurias 28766179;18926513;33483254;32779420;27604308 False 2 100;0;0 1.60 True ENSG00000175600 ENSG00000175600 HGNC:16001 TXNIP gene TXNIP Expert Review Amber;Literature Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Metabolic disease MONDO:0005066, TXNIP-related 41116060;30755400 False 2 0;100;0 1.60 True ENSG00000117289 ENSG00000265972 HGNC:16952 UROC1 gene UROC1 Expert list;Expert Review Amber Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Urocanase deficiency, MIM#276880 19304569;30619714 False 2 0;100;0 1.60 True ENSG00000159650 ENSG00000159650 HGNC:26444 DMGDH gene DMGDH Expert Review Red;Literature Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Dimethylglycine dehydrogenase deficiency MIM#605850 11231903;18937046;28881522;27604308 False 1 0;50;50 1.60 True ENSG00000132837 ENSG00000132837 HGNC:24475 GCSH gene GCSH Expert Review Red;Literature Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy MIM#605899;Disorders of serine, glycine or glycerate metabolism 1671321;27604308 False 1 0;0;100 1.60 True ENSG00000140905 ENSG00000140905 HGNC:4208 GLYAT gene GLYAT Expert Review Red;Literature Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, GLYAT-related 40747359 False 1 0;0;100 1.60 True ENSG00000149124 ENSG00000149124 HGNC:13734 HIBADH gene HIBADH Expert Review Red;Literature Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal organic aciduria 34176136 False 1 0;0;100 1.60 True ENSG00000106049 ENSG00000106049 HGNC:4907 NAT8L gene NAT8L Expert Review Red;Literature Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal N-acetylaspartate deficiency - MIM#614063 11310630;19807691;32275776 False 1 0;50;50 1.60 True ENSG00000185818 ENSG00000185818 HGNC:26742 PPA1 gene PPA1 Expert Review Red;Literature Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Galactosaemia, MONDO:0018116 37999237 False 1 0;0;100 1.60 True ENSG00000180817 ENSG00000180817 HGNC:9226 SLC27A5 gene SLC27A5 Expert Review Red;Literature Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Bile acid-CoA ligase deficiency;Disorders of bile acid biosynthesis 22089923;27604308 False 1 0;0;100 1.60 True ENSG00000083807 ENSG00000083807 HGNC:10999 TDO2 gene TDO2 Expert Review Red;Literature Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hypertryptophanemia MIM#600627;Disorders of histidine, tryptophan or lysine metabolism 28285122;27604308 False 1 0;0;100 1.60 True ENSG00000151790 ENSG00000151790 HGNC:11708 GLS_GDPAG_GCA str GLS Expert Review Green;Literature Miscellaneous Metabolic Disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412 30970188 False 3 100;0;0 1.60 True ENSG00000115419 ENSG00000115419 HGNC:4331 2 191745599 191745646 190880873 190880920 GCA 16 400