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;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only);Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 8, 614096;infantile mitochondrial cardiomyopathy 27604308 False 3 100;0;0 8.110 False ENSG00000124608 ENSG00000124608 HGNC:21022 AASS gene AASS Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hyperlysinemia, OMIM:238700;Hyperlysinemia (disease), MONDO:0009388 23890588;10775527;27604308;23570448 False 3 0;100;0 8.110 False ENSG00000008311 ENSG00000008311 HGNC:17366 ABAT gene ABAT Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal 613163;GABA transaminase deficiency (Disorders of neurotransmitter metabolism, gamma-aminobutyrate);mtDNA depletion syndrome 27604308 False 3 75;0;25 8.110 False ENSG00000183044 ENSG00000183044 HGNC:23 ABCA1 gene ABCA1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Tangier disease (Disorders of high density lipoprotein metabolism) 27604308 False 3 100;0;0 8.110 False ENSG00000165029 ENSG00000165029 HGNC:29 ABCB11 gene ABCB11 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Progressive familial intrahepatic cholestasis type 2 (Disorders of bile acid metabolism and transport);Cholestasis, benign recurrent intrahepatic, 2 605479;Cholestasis, progressive familial intrahepatic 2 601847 27604308 False 3 100;0;0 8.110 False ENSG00000073734 ENSG00000073734 HGNC:42 ABCB4 gene ABCB4 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Gallbladder disease 1 600803 AD, AR;Cholestasis, progressive familial intrahepatic 3 602347 AR;Progressive familial intrahepatic cholestasis type 3 (Disorders of bile acid metabolism and transport);Cholestasis, intrahepatic, of pregnancy, 3 614972 AD, AR 27604308 False 3 100;0;0 8.110 False ENSG00000005471 ENSG00000005471 HGNC:45 ABCB7 gene ABCB7 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, sideroblastic, with ataxia OMIM:301310;X-linked sideroblastic anemia with ataxia MONDO:0010524 27604308 False 3 50;0;50 8.110 False ENSG00000131269 ENSG00000131269 HGNC:48 ABCD1 gene ABCD1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Adrenoleukodystrophy, OMIM:300100;Adrenoleukodystrophy, adult, OMIM:300100 27604308 False 3 0;100;0 8.110 False ENSG00000101986 ENSG00000101986 HGNC:61 ABCD4 gene ABCD4 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblJ type 27604308;23141461;25234635 False 3 0;0;0 8.110 False ENSG00000119688 ENSG00000119688 HGNC:68 ABCG5 gene ABCG5 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Sitosterolaemia (Inherited hypercholesterolaemias);Familial hypercholesterolaemia 27604308 False 3 100;0;0 8.110 False ENSG00000138075 ENSG00000138075 HGNC:13886 ABCG8 gene ABCG8 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Sitosterolaemia (Inherited hypercholesterolaemias);Familial hypercholesterolaemia 27604308 False 3 100;0;0 8.110 False ENSG00000143921 ENSG00000143921 HGNC:13887 ABHD12 gene ABHD12 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hereditary ataxia;Posterior segment abnormalities;Congenital hearing impairment (profound/severe);PHARC syndrome (Disorders of complex lipid synthesis) 27604308 False 3 100;0;0 8.110 False ENSG00000100997 ENSG00000100997 HGNC:15868 ABHD5 gene ABHD5 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Chanarin-Dorfman syndrome 275630;Neutral lipid storage disease (Disorders of lipolysis) 27604308 False 3 100;0;0 8.110 False ENSG00000011198 ENSG00000011198 HGNC:21396 ACACA gene ACACA Expert Review Green;Literature;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Acetyl-CoA carboxylase deficiency, OMIM: 613933 6114432;34552920;36709796 False 3 50;50;0 8.110 False ENSG00000132142 ENSG00000278540 HGNC:84 ACAD8 gene ACAD8 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Isobutyric aciduria (Organic acidurias) 27604308 False 3 100;0;0 8.110 False ENSG00000151498 ENSG00000151498 HGNC:87 ACAD9 gene ACAD9 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency due to ACAD9 deficiency;ACAD9 deficiency, 611126;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Isolated complex I deficiency 27604308 False 3 100;0;0 8.110 False ENSG00000177646 ENSG00000177646 HGNC:21497 ACADM gene ACADM Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, medium chain, deficiency of;Medium - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) 27604308;24816252 False 3 33;33;33 8.110 False ENSG00000117054 ENSG00000117054 HGNC:89 ACADS gene ACADS Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, short-chain, deficiency of 27604308;24816252 False 3 0;0;100 8.110 False ENSG00000122971 ENSG00000122971 HGNC:90 ACADSB gene ACADSB Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal 2-methylbutyrylglycinuria 610006;2-Methylbutyric aciduria (Organic acidurias) 27604308 False 3 0;0;100 8.110 False ENSG00000196177 ENSG00000196177 HGNC:91 ACADVL gene ACADVL Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency;Very long - chain acyl CoA dehydrogenase deficiency (Disorders of mitochondrial fatty acid oxidation) 27604308 False 3 50;0;50 8.110 False ENSG00000072778 ENSG00000072778 HGNC:92 ACAT1 gene ACAT1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Cytosolic acetoacetyl-CoA thiolase deficiency (Disorders of ketone body metabolism);Fasting intolerance with acidosis, ? residual neurological problems;3-Oxothiolase deficiency (Organic acidurias) 27604308 False 3 0;0;100 8.110 False ENSG00000075239 ENSG00000075239 HGNC:93 ACO2 gene ACO2 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Infantile cerebellar-retinal degeneration, 614559 34056600 False 3 100;0;0 8.110 False ENSG00000100412 ENSG00000100412 HGNC:118 ACOX1 gene ACOX1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Peroxisomal acyl-CoA oxidase deficiency, OMIM:264470 27604308 False 3 0;0;0 8.110 False ENSG00000161533 ENSG00000161533 HGNC:119 ACOX2 gene ACOX2 ClinGen;Expert Review Green;NHS GMS;Other Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 6, OMIM:617308 27647924;27884763;29287774;33340570;35395098 False 3 100;0;0 8.110 False ENSG00000168306 ENSG00000168306 HGNC:120 ACSF3 gene ACSF3 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined malonic and methylmalonic aciduria, OMIM:614265 21785126;26915364;30740739;26827111;27604308;21841779 False 3 0;100;0 8.110 False ENSG00000176715 ENSG00000176715 HGNC:27288 ACY1 gene ACY1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Aminoacylase 1 deficiency (Organic acidurias) 27604308 False 3 100;0;0 8.110 False ENSG00000243989 ENSG00000243989 HGNC:177 ADA gene ADA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency due to ADA deficiency, OMIM:102700;Adenosine deaminase deficiency, partial, OMIM:102700 27604308 False 3 100;0;0 8.110 False ENSG00000196839 ENSG00000196839 HGNC:186 ADAR gene ADAR Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, OMIM:615010;Dyschromatosis symmetrica hereditaria, OMIM:127400 27604308;12916015;23001123 False 3 0;0;0 8.110 False ENSG00000160710 ENSG00000160710 HGNC:225 ADSL gene ADSL Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Epileptic encephalopathy;Adenylosuccinate lyase deficiency (Disorders of purine metabolism) 27604308 False 3 100;0;0 8.110 False ENSG00000239900 ENSG00000239900 HGNC:291 AFG3L2 gene AFG3L2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Optic atrophy 12, OMIM:618977;Spinocerebellar ataxia 28, OMIM:610246;Spastic ataxia 5, autosomal recessive, OMIM:614487 27604308 False 3 100;0;0 8.110 False ENSG00000141385 ENSG00000141385 HGNC:315 AGA gene AGA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Aspartylglucosaminuria 27604308 False 3 0;0;0 8.110 False ENSG00000038002 ENSG00000038002 HGNC:318 AGK gene AGK Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Mitochondrial DNA depletion syndrome 10;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Acylglycerol kinase deficiency (Senger syndrome) (Disorders of complex lipid synthesis);Sengers syndrome, 212350;Sengers syndrome 212350;Disorders of mitochondrial lipid metabolism;Cataract 38, autosomal recessive, 614691 27604308 False 3 100;0;0 8.110 False ENSG00000006530 ENSG00000006530 HGNC:21869 AGL gene AGL Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease type III, Cori (Glycogen storage disorders);Glycogen storage disease IIIb, 232400;Glycogen Storage Disorders- Liver;Glycogen Storage Disease;myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance;Glycogen Storage Disease Type III;Glycogen Storage Disorders- Muscle;Glycogen storage disease IIIa, 232400 27604308 False 3 100;0;0 8.110 False ENSG00000162688 ENSG00000162688 HGNC:321 AGPS gene AGPS Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 3 600121;Rhizomelic chondrodysplasia punctata type 3 (Peroxisomal disorders) 27604308 False 3 0;0;0 8.110 False ENSG00000018510 ENSG00000018510 HGNC:327 AGXT gene AGXT Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Primary hyperoxaluria type I (Other peroxisomal disorders);Primary hyperoxaluria type I (Disorders of glyoxylate metabolism);Hyperoxaluria, primary, type 1 27604308 False 3 0;0;0 8.110 False ENSG00000172482 ENSG00000172482 HGNC:341 AHCY gene AHCY Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, 613752;Disorders of the metabolism of sulphur amino acids 15024124;16435181;16736098;20852937;22959829;26095522;26527160;28779239;30121674;31957987 False 3 50;0;50 8.110 False ENSG00000101444 ENSG00000101444 HGNC:343 AIFM1 gene AIFM1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Disorders of mitochondrial apoptosis;Cowchock syndrome, 310490;Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Combined oxidative phosphorylation deficiency 6, 300816 27604308 False 3 100;0;0 8.110 False ENSG00000156709 ENSG00000156709 HGNC:8768 AKR1D1 gene AKR1D1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?4-3-oxysterol 5?-reductase deficiency (Disorders of bile acid biosynthesis);Bile acid synthesis defect, congenital, 2 235555 27604308;24816252 False 3 100;0;0 8.110 False ENSG00000122787 ENSG00000122787 HGNC:388 ALAD gene ALAD Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal {Lead poisoning, susceptibility to} 612740;Acute hepatic porphyria (Acute neuropathic porphyrias);Porphyria, acute hepatic 612740 27604308 False 3 100;0;0 8.110 False ENSG00000148218 ENSG00000148218 HGNC:395 ALAS2 gene ALAS2 Expert list;Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Anemia, sideroblastic, 1, OMIM:300751;Protoporphyria, erythropoietic, X-linked, OMIM:300752 27604308 False 3 100;0;0 8.110 False ENSG00000158578 ENSG00000158578 HGNC:397 ALDH18A1 gene ALDH18A1 Expert list;Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cutis laxa, autosomal dominant 3 OMIM:616603;cutis laxa, autosomal dominant 3 MONDO:0014706;Cutis laxa, autosomal recessive, type IIIA OMIM:219150;ALDH18A1-related de Barsy syndrome MONDO:0009053;Spastic paraplegia 9A, autosomal dominant OMIM:601162;hereditary spastic paraplegia 9A MONDO:0011006;Spastic paraplegia 9B, autosomal recessive OMIM:616586;autosomal recessive complex spastic paraplegia type 9B MONDO:0014702 27604308;24816252;29903433;11092761;22170564;26320891 False 3 100;0;0 8.110 False ENSG00000059573 ENSG00000059573 HGNC:9722 ALDH3A2 gene ALDH3A2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Sjogren-Larsson syndrome, OMIM:270200 27604308 False 3 100;0;0 8.110 False ENSG00000072210 ENSG00000072210 HGNC:403 ALDH4A1 gene ALDH4A1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Hyperprolinaemia type II (Disorders of ornithine or proline metabolism);Hyperprolinemia, type II 27604308 False 3 0;0;0 8.110 False ENSG00000159423 ENSG00000159423 HGNC:406 ALDH5A1 gene ALDH5A1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Succinic semialdehyde dehydrogenase deficiency OMIM:271980;succinic semialdehyde dehydrogenase deficiency MONDO:0010083 27604308;9683595;14635103;32402538 False 3 0;0;0 8.110 False ENSG00000112294 ENSG00000112294 HGNC:408 ALDH6A1 gene ALDH6A1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Methylmalonate semialdehyde dehydrogenase deficiency 614105;3-Hydroxyisobutyric aciduria (Organic acidurias);Methylmalonate semialdehyde dehydrogenase deficiency (Organic acidurias) 27604308 False 3 100;0;0 8.110 False ENSG00000119711 ENSG00000119711 HGNC:7179 ALDH7A1 gene ALDH7A1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Epilepsy, pyridoxine-dependent 27604308 False 3 0;0;0 8.110 False ENSG00000164904 ENSG00000164904 HGNC:877 ALDOA gene ALDOA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen Storage Disease;Aldolase A deficiency (Glycogen storage disorders);Glycogen storage disease XII, 611881 27604308 False 3 100;0;0 8.110 False ENSG00000149925 ENSG00000149925 HGNC:414 ALDOB gene ALDOB Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal hereditary fructose intolerance;Hereditary fructose intolerance (Disorders of fructose metabolism);acidosis with ketototic hypoglycaemia often hepatomegaly in acute presentation 27604308 False 3 0;0;0 8.110 False ENSG00000136872 ENSG00000136872 HGNC:417 ALG1 gene ALG1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mannosyltransferase 1 deficiency (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Ik 608540 22966035;14973782;26931382 False 3 0;0;0 8.110 False ENSG00000033011 ENSG00000033011 HGNC:18294 ALG11 gene ALG11 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ALG11-CDG (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Ip 613661 27604308 False 3 0;0;0 8.110 False ENSG00000253710 ENSG00000253710 HGNC:32456 ALG12 gene ALG12 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ig 607143;Mannosyltransferase 8 deficiency (Disorders of protein N-glycosylation) 27604308;17506107;11983712 False 3 0;0;0 8.110 False ENSG00000182858 ENSG00000182858 HGNC:19358 ALG14 gene ALG14 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Myasthenic syndrome, congenital, 15, without tubular aggregates 616227;Congenital myasthenic sydrome (Disorders of protein N-glycosylation) 27604308;28733338;23404334;30221345 False 3 100;0;0 8.110 False ENSG00000172339 ENSG00000172339 HGNC:28287 ALG3 gene ALG3 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mannosyltransferase 6 deficiency ALG3-CDG (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Id 601110;Mannosyltransferase 6 deficiency (Disorders of protein N-glycosylation);ALG3-CDG (Disorders of protein N-glycosylation) 15108280;19862844 False 3 0;0;0 8.110 False ENSG00000214160 ENSG00000214160 HGNC:23056 ALG6 gene ALG6 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ic 603147;Glucosyltransferase 1 deficiency (Disorders of protein N-glycosylation) 27604308 False 3 0;0;0 8.110 False ENSG00000088035 ENSG00000088035 HGNC:23157 ALG8 gene ALG8 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glucosyltransferase 2 deficiency (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Ih 608104 27604308 False 3 0;0;0 8.110 False ENSG00000159063 ENSG00000159063 HGNC:23161 ALG9 gene ALG9 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mannosyltransferase 7-9 deficiency (Disorders of protein N-glycosylation);ALG9-CDG (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Il 608776 27604308 False 3 0;0;0 8.110 False ENSG00000086848 ENSG00000086848 HGNC:15672 ALPL gene ALPL Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypophosphatasia, adult, OMIM:146300;Hypophosphatasia, childhood, OMIM:241510;Hypophosphatasia, infantile, OMIM:241500;Odontohypophosphatasia, OMIM:146300 27604308;11745997;1409720;17213282 False 3 0;0;0 8.110 False ENSG00000162551 ENSG00000162551 HGNC:438 AMACR gene AMACR Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Alpha-methylacyl-CoA racemase deficiency;Alpha-methylacyl-CoA racemase deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) 27604308 False 3 0;0;0 8.110 False ENSG00000242110 ENSG00000242110 HGNC:451 AMN gene AMN Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Intrinsic factor receptor deficiency due to AMN mutations (Disorders of cobalamin absorption, transport and metabolism);Proteinuric renal disease;Unexplained kidney failure in young people 27604308 False 3 0;0;0 8.110 False ENSG00000166126 ENSG00000166126 HGNC:14604 AMT gene AMT Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy 27604308 False 3 0;0;0 8.110 False ENSG00000145020 ENSG00000145020 HGNC:473 ANO10 gene ANO10 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 10, 613728 False 3 50;0;50 8.110 False ENSG00000160746 ENSG00000160746 HGNC:25519 APOA1 gene APOA1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amyloidosis, 3 or more types OMIM:105200;familial visceral amyloidosis MONDO:0007099;ApoA-I and apoC-III deficiency, combined OMIM:618463;Hypoalphalipoproteinemia, primary, 2, with or without corneal clouding OMIM:618463;hypoalphalipoproteinemia, primary, 2 MONDO:0032766 27604308;26515634;12050338;32022753 False 3 100;0;0 8.110 False ENSG00000118137 ENSG00000118137 HGNC:600 APOA5 gene APOA5 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hyperchylomicronemia, late-onset OMIM:144650;hyperlipoproteinemia type V MONDO:0007762;{Hypertriglyceridemia, susceptibility to} OMIM:145750;hypertriglyceridemia, familial MONDO:0007788 27604308;27678447;16200213;12417525;23307945 False 3 100;0;0 8.110 False ENSG00000110243 ENSG00000110243 HGNC:17288 APOB gene APOB Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypercholesterolemia, familial, 2 OMIM:144010;hypercholesterolemia, autosomal dominant, type B MONDO:0007751;Hypobetalipoproteinemia OMIM:615558;familial hypobetalipoproteinemia 1 MONDO:0014252 27604308 False 3 100;0;0 8.110 False ENSG00000084674 ENSG00000084674 HGNC:603 APOC2 gene APOC2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hyperlipoproteinemia, type Ib 207750;Familial apolipoprotein C - II deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias) 27604308 False 3 100;0;0 8.110 False ENSG00000234906 ENSG00000234906 HGNC:609 APOE gene APOE Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Familial dysbetalipoproteinaemia (Inherited mixed hyperlipidaemias);Hyperlipoproteinemia, type III 617347;Sea-blue histiocyte disease 269600;Lipoprotein glomerulopathy 611771 27604308;24816252 False 3 100;0;0 8.110 False ENSG00000130203 ENSG00000130203 HGNC:613 APOPT1 gene APOPT1 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 17, OMIM:619061;Isolated complex IV deficiency False 3 100;0;0 8.110 False ENSG00000256053 ENSG00000256053 HGNC:20492 APRT gene APRT Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Adenine phosphoribosyltransferase deficiency 614723;Adenine phosphoribosyl transferase deficiency (Disorders of purine metabolism) 27604308 False 3 100;0;0 8.110 False ENSG00000198931 ENSG00000198931 HGNC:626 APTX gene APTX Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Ataxia with oculomotor apraxia 1;Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920;Disorders of ubiquinone metabolism and biosynthesis 27604308 False 3 50;0;50 8.110 False ENSG00000137074 ENSG00000137074 HGNC:15984 ARG1 gene ARG1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Argininaemia (Urea cycle disorders and inherited hyperammonaemias);Argininemia, OMIM:207800 27604308 False 3 0;0;0 8.110 False ENSG00000118520 ENSG00000118520 HGNC:663 ARSA gene ARSA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy 27604308;24816252 False 3 0;0;0 8.110 False ENSG00000100299 ENSG00000100299 HGNC:713 ARSB gene ARSB Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 6;Mucopolysaccharidosis, Type VI;Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200;Mucopolysaccharidosis Type VI;MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease) 27604308 False 3 0;0;0 8.110 False ENSG00000113273 ENSG00000113273 HGNC:714 ARSE gene ARSE Expert Review Green Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Chondrodysplasia punctata, X-linked recessive 302950 False 3 0;0;0 8.110 False ENSG00000157399 ENSG00000157399 HGNC:719 ARSG gene ARSG Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type IV, OMIM:618144;usher syndrome, type 4, MONDO:0029141 26975023;20679209;25452429;33300174 False 3 67;0;33 8.110 False ENSG00000141337 ENSG00000141337 HGNC:24102 ARSK gene ARSK Expert Review Green;Literature;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis, type X, OMIM:619698;mucopolysaccharidosis, type 10, MONDO:0030524 34916232;35959767;38292179 False 3 50;50;0 8.110 False ENSG00000164291 ENSG00000164291 HGNC:25239 ASAH1 gene ASAH1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability 27604308;29169047;22703880;24164096 False 3 0;0;0 8.110 False ENSG00000104763 ENSG00000104763 HGNC:735 ASL gene ASL Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Argininosuccinic aciduria, OMIM:207900;argininosuccinic aciduria, MONDO:0008815 27604308;12384776;17326097;29326055 False 3 0;0;0 8.110 False ENSG00000126522 ENSG00000126522 HGNC:746 ASPA gene ASPA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Canavan disease 27604308 False 3 0;0;0 8.110 False ENSG00000108381 ENSG00000108381 HGNC:756 ASS1 gene ASS1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Citrullinaemia type1 (Urea cycle disorders and inherited hyperammonaemias);Citrullinemia 27604308 False 3 0;0;0 8.110 False ENSG00000130707 ENSG00000130707 HGNC:758 ATAD3A gene ATAD3A Expert Review Green;Literature Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Harel-Yoon syndrome, OMIM:617183;Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810;Lactic acidosis;Methylglutaconic aciduria 27640307 False 3 67;33;0 8.110 False ENSG00000197785 ENSG00000197785 HGNC:25567 ATIC gene ATIC Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;AICAR transformylase deficiency (Disorders of purine metabolism) 27604308 False 3 100;0;0 8.110 False ENSG00000138363 ENSG00000138363 HGNC:794 ATP13A2 gene ATP13A2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Kufor-Rakeb syndrome False 3 0;0;0 8.110 False ENSG00000159363 ENSG00000159363 HGNC:30213 ATP5A1 gene ATP5A1 Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4, OMIM: 615228;Combined oxidative phosphorylation deficiency 22, OMIM: 616045 23596069;23599390;34483339;34954817 False 3 100;0;0 8.110 False ENSG00000152234 ENSG00000152234 HGNC:823 ATP5D gene ATP5D Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, 618120 29478781 False 3 0;0;0 8.110 False ENSG00000099624 ENSG00000099624 HGNC:837 ATP5E gene ATP5E Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3, OMIM:614053;mitochondrial complex V (ATP synthase) deficiency nuclear type 3, MONDO:0013547 20566710;27626380;25954304;27604308 False 3 100;0;0 8.110 False ENSG00000124172 ENSG00000124172 HGNC:838 ATP5G3 gene ATP5G3 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia, early-onset, and/or spastic paraplegia, OMIM:619681 34636445;34954817 False 3 67;33;0 8.110 False ENSG00000154518 ENSG00000154518 HGNC:843 ATP5O gene ATP5O Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359 34954817;35621276 False 3 50;50;0 8.110 False ENSG00000241837 ENSG00000241837 HGNC:850 ATP6AP1 gene ATP6AP1 Expert Review Green Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 47 27231034 False 3 0;0;0 8.110 False ENSG00000071553 ENSG00000071553 HGNC:868 ATP6V0A2 gene ATP6V0A2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal V0 subunit A2 of vesicular H(+)-ATPase deficiency (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies);Cutis laxa, autosomal recessive, type IIA 21920;Wrinkly skin syndrome 278250 27604308 False 3 0;0;0 8.110 False ENSG00000185344 ENSG00000185344 HGNC:18481 ATP7A gene ATP7A Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease False 3 0;0;0 8.110 False ENSG00000165240 ENSG00000165240 HGNC:869 ATP7B gene ATP7B Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Wilson disease 27604308 False 3 0;0;0 8.110 False ENSG00000123191 ENSG00000123191 HGNC:870 ATP8B1 gene ATP8B1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 1 211600;Cholestasis, benign recurrent intrahepatic 243300 AR;Cholestasis, intrahepatic, of pregnancy, 1 147480 AD;Byler disease (Disorders of bile acid metabolism and transport) 27604308 False 3 100;0;0 8.110 False ENSG00000081923 ENSG00000081923 HGNC:3706 ATPAF2 gene ATPAF2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273;Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Diseases;Isolated complex V deficiency;Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 14757859;19933271 False 3 50;50;0 8.110 False ENSG00000171953 ENSG00000171953 HGNC:18802 AUH gene AUH Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type I;Methylglutaconic aciduria type I (Organic acidurias) 27604308 False 3 0;0;0 8.110 False ENSG00000148090 ENSG00000148090 HGNC:890 B3GALNT2 gene B3GALNT2 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11 23453667 False 3 0;0;0 8.110 False ENSG00000162885 ENSG00000162885 HGNC:28596 B3GALT6 gene B3GALT6 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, progeroid type, 2 23664117;23664118 False 3 0;0;0 8.110 False ENSG00000176022 ENSG00000176022 HGNC:17978 B3GAT3 gene B3GAT3 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600;B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 27604308 False 3 0;0;0 8.110 False ENSG00000149541 ENSG00000149541 HGNC:923 B3GLCT gene B3GLCT Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Peters-plus syndrome 261540;O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 23889335;16909395 False 3 0;0;0 8.110 False ENSG00000187676 ENSG00000187676 HGNC:20207 B4GALNT1 gene B4GALNT1 Expert list;Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 26, autosomal recessive, OMIM:609195;Hereditary spastic paraplegia 26, MONDO:0012213 23746551;24103911 False 3 100;0;0 8.110 False ENSG00000135454 ENSG00000135454 HGNC:4117 B4GALT1 gene B4GALT1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IId, OMIM:607091 11901181;21920538 False 3 0;0;0 8.110 False ENSG00000086062 ENSG00000086062 HGNC:924 B4GALT7 gene B4GALT7 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome with short stature and limb anomalies 130070;B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies);B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);Beta-1,4-galactosyltransferase 7 deficiency (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies) 27604308 False 3 0;0;0 8.110 False ENSG00000027847 ENSG00000027847 HGNC:930 BAAT gene BAAT Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hypercholanemia, familial 27604308;23415802 False 3 100;0;0 8.110 False ENSG00000136881 ENSG00000136881 HGNC:932 BCAT2 gene BCAT2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) 27604308;14755340;25653144 False 3 50;0;50 8.110 False ENSG00000105552 ENSG00000105552 HGNC:977 BCKDHA gene BCKDHA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ia;BCKD E1 alpha subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria) 27604308 False 3 0;0;0 8.110 False ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHB gene BCKDHB Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ib;BCKD E1 beta subunit of deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria) 27604308 False 3 0;0;0 8.110 False ENSG00000083123 ENSG00000083123 HGNC:987 BCKDK gene BCKDK Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Branched-chain ketoacid dehydrogenase kinase deficiency 27604308;22956686 False 3 100;0;0 8.110 False ENSG00000103507 ENSG00000103507 HGNC:16902 BCS1L gene BCS1L Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Diseases;Isolated complex III deficiency;Mitochondrial Respiratory Chain Complex III Deficiency;Mitochondrial complex III deficiency, nuclear type 1, 124000;Leigh syndrome, 256000;Bjornstad syndrome, 262000;GRACILE syndrome, 603358 27604308 False 3 100;0;0 8.110 False ENSG00000074582 ENSG00000074582 HGNC:1020 BOLA3 gene BOLA3 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hyperglycinaemia, non-ketotic (Baker (2014) Brain 137,366);Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple mitochondrial dysfunctions syndrome 2, 614299;Multiple Mitochondrial Dysfunctions Syndrome;Disorders of iron homeostasis 27604308 False 3 100;0;0 8.110 False ENSG00000163170 ENSG00000163170 HGNC:24415 BTD gene BTD Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Biotinidase deficiency (Disorders of biotin metabolism);Biotinidase deficiency;lactic acidosis with seizures and eczema,immune deficiency 27604308 False 3 0;0;100 8.110 False ENSG00000169814 ENSG00000169814 HGNC:1122 C12orf65 gene C12orf65 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 7, OMIM:613559;Spastic paraplegia 55, autosomal recessive, OMIM:615035;Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 27604308 False 3 100;0;0 8.110 False ENSG00000130921 ENSG00000130921 HGNC:26784 C19orf12 gene C19orf12 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Spastic paraplegia 43, autosomal recessive, OMIM:615043;Neurodegeneration with brain iron accumulation 4, OMIM: 614298 27604308;21981780;29295770;31087512 False 3 25;0;75 8.110 False ENSG00000131943 ENSG00000131943 HGNC:25443 C19orf70 gene C19orf70 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 37, 618329 27623147;29618761;27485409 False 3 0;0;0 8.110 False ENSG00000174917 ENSG00000174917 HGNC:33702 C1QBP gene C1QBP Expert list;Expert Review;Expert Review Green;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 33 617713 28942965 False 3 100;0;0 8.110 False ENSG00000108561 ENSG00000108561 HGNC:1243 C2orf69 gene C2orf69 Expert Review Green;Literature;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 53, OMIM:619423 34038740;33945503 False 3 100;0;0 8.110 False ENSG00000178074 ENSG00000178074 HGNC:26799 CA5A gene CA5A Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hyperammonemia due to carbonic anhydrase VA deficiency;Hyperammonemia (Urea cycle disorders and inherited hyperammonaemias) 27604308 False 3 100;0;0 8.110 False ENSG00000174990 ENSG00000174990 HGNC:1377 CARS2 gene CARS2 Expert Review Green;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);No OMIM phenotype;Combined oxidative phosphorylation deficiency 27 616672 25361775;25787132;30139652 False 3 100;0;0 8.110 False ENSG00000134905 ENSG00000134905 HGNC:25695 CAT gene CAT Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Acatalasaemia (Other peroxisomal disorders);Acatalasemia, 614097 27604308 False 3 0;0;0 8.110 False ENSG00000121691 ENSG00000121691 HGNC:1516 CBS gene CBS Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Homocystinuria, B6-responsive and nonresponsive types False 3 0;0;0 8.110 False ENSG00000160200 ENSG00000160200 HGNC:1550 CCDC115 gene CCDC115 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIo 616828 26833332 False 3 0;0;0 8.110 False ENSG00000136710 ENSG00000136710 HGNC:28178 CHCHD10 gene CHCHD10 Expert Review Green Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 2;?Myopathy, isolated mitochondrial, autosomal dominant, 616209;Spinal muscular atrophy, Jokela type 31261376 False 3 100;0;0 8.110 False ENSG00000250479 ENSG00000250479 HGNC:15559 CHKB gene CHKB Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Choline kinase deficiency (Disorders of complex lipid synthesis);Muscular dystrophy, congenital, megaconial type, 602541 27604308 False 3 50;0;50 8.110 False ENSG00000100288 ENSG00000100288 HGNC:1938 CHST14 gene CHST14 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, musculocontractural type 1 601776;CHST14-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 27604308 False 3 0;0;0 8.110 False ENSG00000169105 ENSG00000169105 HGNC:24464 CHST3 gene CHST3 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Spondyloepiphyseal dysplasia with congenital joint dislocations 143095;CHST3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 20830804 False 3 0;0;0 8.110 False ENSG00000122863 ENSG00000122863 HGNC:1971 CHST6 gene CHST6 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal CHST6-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);Macular corneal dystrophy 217800 27604308 False 3 0;0;0 8.110 False ENSG00000183196 ENSG00000183196 HGNC:6938 CHSY1 gene CHSY1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Temtamy preaxial brachydactyly syndrome 605282;CHSY1-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 24269551;21129727 False 3 0;0;0 8.110 False ENSG00000131873 ENSG00000131873 HGNC:17198 CISD2 gene CISD2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome 2 604928 27604308;17846994;25056293;25371195;29237418 False 3 0;0;100 8.110 False ENSG00000145354 ENSG00000145354 HGNC:24212 CLDN16 gene CLDN16 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 3, renal, OMIM:248250 27604308 False 3 0;0;0 8.110 False ENSG00000113946 ENSG00000113946 HGNC:2037 CLDN19 gene CLDN19 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 5, renal, with ocular involvement 248190 27604308;22422540;17033971 False 3 0;0;0 8.110 False ENSG00000164007 ENSG00000164007 HGNC:2040 CLN3 gene CLN3 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 3, 204200 False 3 0;0;0 8.110 False ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 5 OMIM:256731;neuronal ceroid lipofuscinosis 5 MONDO:0009745 False 3 0;0;0 8.110 False ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 6, 601780;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 False 3 0;0;0 8.110 False ENSG00000128973 ENSG00000128973 HGNC:2077 CLN8 gene CLN8 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 8 False 3 0;0;0 8.110 False ENSG00000182372 ENSG00000182372 HGNC:2079 CLPB gene CLPB Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIIB, autosomal recessive, OMIM:616271;3-methylglutaconic aciduria, type VIIA, autosomal dominant, OMIM: 619835;Neutropenia, severe congenital, 9, autosomal dominant, OMIM: 619813 25597510;25597511;25650066;25595726;26916670;28687938;34140661 False 3 100;0;0 8.110 False ENSG00000162129 ENSG00000162129 HGNC:30664 CLPP gene CLPP Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3, 614129 False 3 100;0;0 8.110 False ENSG00000125656 ENSG00000125656 HGNC:2084 CMPK2 gene CMPK2 Expert Review Green;Literature;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 10, autosomal recessive, OMIM:621018;basal ganglia calcification, idiopathic, 10, autosomal recessive, MONDO:0975875 33340416;36443312 False 3 100;0;0 8.110 False ENSG00000134326 ENSG00000134326 HGNC:27015 CNNM2 gene CNNM2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypomagnesaemia type 6, renal (Disorder of magnesium metabolism);Hypomagnesemia 6, renal 613882;Hypomagnesemia, seizures, and mental retardation 616418 27604308 False 3 100;0;0 8.110 False ENSG00000148842 ENSG00000148842 HGNC:103 COA6 gene COA6 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501 False 3 100;0;0 8.110 False ENSG00000168275 ENSG00000168275 HGNC:18025 COA7 gene COA7 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387;spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770 27683825;29718187 False 3 0;0;0 8.110 False ENSG00000162377 ENSG00000162377 HGNC:25716 COG1 gene COG1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Component of COG complex 1 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency);Congenital disorder of glycosylation, type IIg 611209 27604308 False 3 0;0;0 8.110 False ENSG00000166685 ENSG00000166685 HGNC:6545 COG4 gene COG4 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Component of COG complex 4 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency);Congenital disorder of glycosylation, type IIj 613489 19651599;21185756;19494034;11980916 False 3 0;0;0 8.110 False ENSG00000103051 ENSG00000103051 HGNC:18620 COG5 gene COG5 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIi 613612;Component of COG complex 5 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) 27604308 False 3 0;0;0 8.110 False ENSG00000164597 ENSG00000164597 HGNC:14857 COG6 gene COG6 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Component of COG complex 6 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency);Shaheen syndrome 615328;Congenital disorder of glycosylation, type IIl 614576 26260076;11980916 False 3 0;0;0 8.110 False ENSG00000133103 ENSG00000133103 HGNC:18621 COG7 gene COG7 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Component of COG complex 7 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency);Congenital disorder of glycosylation, type IIe 608779 27604308 False 3 0;0;0 8.110 False ENSG00000168434 ENSG00000168434 HGNC:18622 COG8 gene COG8 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIh 611182;Component of COG complex 8 deficiency (Disorders of multiple glycosylation and other glycosylation pathways, conserved oligomeric Golgi (COG) complex deficiency) 17220172;17331980;11980916 False 3 0;0;0 8.110 False ENSG00000213380 ENSG00000213380 HGNC:18623 COQ2 gene COQ2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1, OMIM:607426 27604308 False 3 100;0;0 8.110 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ4 gene COQ4 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 7, OMIM:616276 27604308 False 3 100;0;0 8.110 False ENSG00000167113 ENSG00000167113 HGNC:19693 COQ6 gene COQ6 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 6, 614650;Steroid-resistant nephrotic syndrome;Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of ubiquinone metabolism and biosynthesis 27604308 False 3 100;0;0 8.110 False ENSG00000119723 ENSG00000119723 HGNC:20233 COQ7 gene COQ7 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal "?Coenzyme Q10 deficiency, primary, 8 616733" 26084283;28409910 False 3 50;50;0 8.110 False ENSG00000167186 ENSG00000167186 HGNC:2244 COQ8A gene COQ8A Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency;Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of ubiquinone metabolism and biosynthesis;Coenzyme Q10 deficiency, primary, 4, 612016 27604308 False 3 100;0;0 8.110 False ENSG00000163050 ENSG00000163050 HGNC:16812 COQ8B gene COQ8B Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 9 24270420 False 3 100;0;0 8.110 False ENSG00000123815 ENSG00000123815 HGNC:19041 COQ9 gene COQ9 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 5, 614654;Coenzyme Q10 deficiency;Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of ubiquinone metabolism and biosynthesis 27604308 False 3 50;50;0 8.110 False ENSG00000088682 ENSG00000088682 HGNC:25302 COX10 gene COX10 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046;Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due to cytochrome coxidase deficiency 27604308 False 3 100;0;0 8.110 False ENSG00000006695 ENSG00000006695 HGNC:2260 COX11 gene COX11 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 23, OMIM:620275;Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 36030551;38068960 False 3 67;0;33 8.110 False ENSG00000166260 ENSG00000166260 HGNC:2261 COX14 gene COX14 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110;Isolated complex IV deficiency;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) 27604308 False 3 100;0;0 8.110 False ENSG00000178449 ENSG00000178449 HGNC:28216 COX15 gene COX15 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 6, OMIM:615119 27604308 False 3 100;0;0 8.110 False ENSG00000014919 ENSG00000014919 HGNC:2263 COX18 gene COX18 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal mitochondrial disease, MONDO:0044970;Charcot-Marie-Tooth disease, MONDO:0015626 37468577;40830826 False 3 33;33;33 8.110 False ENSG00000163626 ENSG00000163626 HGNC:26801 COX20 gene COX20 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110;Isolated complex IV deficiency;Complex IV Mitochondrial respiratory chain disorders caused by nuclear variants only;OXPHOS assembly factors 27604308 False 3 100;0;0 8.110 False ENSG00000203667 ENSG00000203667 HGNC:26970 COX4I1 gene COX4I1 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 16, OMIM:619060 28766551;31290619;33578848 False 3 50;50;0 8.110 False ENSG00000131143 ENSG00000131143 HGNC:2265 COX5A gene COX5A Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency, nuclear type 20, OMIM:619064;Mitochondrial complex IV deficiency, nuclear type 23, MONDO:0859520 28247525;35246835 False 3 50;50;0 8.110 False ENSG00000178741 ENSG00000178741 HGNC:2267 COX6A1 gene COX6A1 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, recessive intermediate D, 616039 False 3 100;0;0 8.110 False ENSG00000111775 ENSG00000111775 HGNC:2277 COX6A2 gene COX6A2 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 18, OMIM:619062 23460811;31155743;32744742 False 3 67;33;0 8.110 False ENSG00000156885 ENSG00000156885 HGNC:2279 COX6B1 gene COX6B1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051 18499082;24781756 False 3 100;0;0 8.110 False ENSG00000126267 ENSG00000126267 HGNC:2280 COX7B gene COX7B Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Isolated complex IV deficiency;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Linear skin defects with multiple congenital anomalies;Aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism and other congenital anomalies, 300887;MICROPHTHALMIA WITH LINEAR SKIN LESIONS 27604308 False 3 100;0;0 8.110 False ENSG00000131174 ENSG00000131174 HGNC:2291 CP gene CP Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, 604290;Hemosiderosis, systemic, due to aceruloplasminemia, 604290 False 3 0;0;0 8.110 False ENSG00000047457 ENSG00000047457 HGNC:2295 CPOX gene CPOX Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Coproporphyria, OMIM:121300;Harderoporphyria, OMIM:618892 6886003;7757079;8012360;9454777;10505225;11074238;11309681;16159891;21103937;23236641;23605133;30828546;33008663;37540847;38940544;40296768 False 3 100;0;0 8.110 False ENSG00000080819 ENSG00000080819 HGNC:2321 CPS1 gene CPS1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Carbamoylphosphate synthetase I deficiency;Carbamoylphosphate synthetase I deficiency (Urea cycle disorders and inherited hyperammonaemias) 27604308;24816252 False 3 0;0;0 8.110 False ENSG00000021826 ENSG00000021826 HGNC:2323 CPT1A gene CPT1A Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Carnitine palmitoyltransferase I (CPTI) deficiency (Disorders of carnitine transport and the carnitine cycle);CPT deficiency, hepatic, type IA 27604308 False 3 0;0;100 8.110 False ENSG00000110090 ENSG00000110090 HGNC:2328 CPT2 gene CPT2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal CPT II deficiency, infantile, OMIM:600649;CPT II deficiency, lethal neonatal, OMIM:608836;CPT II deficiency, myopathic, stress-induced, OMIM:255110;Carnitine palmitoyltransferase II (CPTII) deficiency (Disorders of carnitine transport and the carnitine cycle) 23911907;10873395;11994355;15622536;21913903;23184072;24843804 False 3 50;0;50 8.110 False ENSG00000157184 ENSG00000157184 HGNC:2330 CREB3L3 gene CREB3L3 Expert Review Green;NHS GMS;South West GLH Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertriglyceridemia 2, OMIM:619324;Hypertriglyceridemia (disease) MONDO:0005347 29954705;21666694;26427795;22135386 False 3 100;0;0 8.110 False ENSG00000060566 ENSG00000060566 HGNC:18855 CRLS1 gene CRLS1 Expert Review Green;Literature;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 57, OMIM:620167 35147173 False 3 100;0;0 8.110 False ENSG00000088766 ENSG00000088766 HGNC:16148 CSGALNACT1 gene CSGALNACT1 Expert list;Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation;Skeletal dysplasia, mild, with joint laxity and advanced bone age OMIM:618870;skeletal dysplasia, mild, with joint laxity and advanced bone age MONDO:0030029 31705726;31325655;31705726 False 3 100;0;0 8.110 False ENSG00000147408 ENSG00000147408 HGNC:24290 CTH gene CTH Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Cystathioninuria, 219500 False 3 0;0;0 8.110 False ENSG00000116761 ENSG00000116761 HGNC:2501 CTNS gene CTNS Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Cystinosis, atypical nephropathic 219750 False 3 0;0;0 8.110 False ENSG00000040531 ENSG00000040531 HGNC:2518 CTSA gene CTSA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Galactosialidosis 27604308 False 3 0;0;0 8.110 False ENSG00000064601 ENSG00000064601 HGNC:9251 CTSC gene CTSC Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Haim-Munk syndrome 245010;Papillon-Lefevre syndrome 245000;Periodontitis 1, juvenile 170650 27604308 False 3 0;0;0 8.110 False ENSG00000109861 ENSG00000109861 HGNC:2528 CTSD gene CTSD Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 10, 610127 False 3 0;0;0 8.110 False ENSG00000117984 ENSG00000117984 HGNC:2529 CTSF gene CTSF Expert list;Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 13, Kufs type OMIM:615362;neuronal ceroid lipofuscinosis 13 MONDO:0014147 23297359;25274848 False 3 100;0;0 8.110 False ENSG00000174080 ENSG00000174080 HGNC:2531 CTSK gene CTSK Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Pycnodysostosis 27604308 False 3 0;0;0 8.110 False ENSG00000143387 ENSG00000143387 HGNC:2536 CUBN gene CUBN Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism);Megaloblastic anemia-1, Finnish type;Proteinuric renal disease;Unexplained kidney failure in young people False 3 0;0;0 8.110 False ENSG00000107611 ENSG00000107611 HGNC:2548 CYC1 gene CYC1 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Isolated complex III deficiency;Mitochondrial complex III deficiency, nuclear type 6, 615453 False 3 100;0;0 8.110 False ENSG00000179091 ENSG00000179091 HGNC:2579 CYCS gene CYCS Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopenia 4, OMIM:612004 18345000;24326104;30051457 False 3 75;25;0 8.110 False ENSG00000172115 ENSG00000172115 HGNC:19986 CYP27A1 gene CYP27A1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, 213700 27604308 False 3 0;0;0 8.110 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP7B1 gene CYP7B1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 3 613812;Spastic paraplegia 5A, autosomal recessive 270800 27604308;9802883;18252231;19187859;31337596 False 3 0;0;0 8.110 False ENSG00000172817 ENSG00000172817 HGNC:2652 D2HGDH gene D2HGDH Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal D-2-hydroxyglutaric aciduria 27604308 False 3 0;0;100 8.110 False ENSG00000180902 ENSG00000180902 HGNC:28358 DARS gene DARS Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hypomyelination with brainstem and spinal cord involvement and leg spasticity False 3 25;25;50 8.110 False ENSG00000115866 ENSG00000115866 HGNC:2678 DARS2 gene DARS2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 8.110 False ENSG00000117593 ENSG00000117593 HGNC:25538 DBH gene DBH Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Dopamine beta-hydroxylase deficiency False 3 100;0;0 8.110 False ENSG00000123454 ENSG00000123454 HGNC:2689 DBT gene DBT Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Dihydrolipoamide branched chain transacylase deficiency (Maple syrup urine disease, disorder of branched-chain amino acid metabolism not classified as organic aciduria);Maple syrup urine disease, type II 27604308 False 3 0;0;0 8.110 False ENSG00000137992 ENSG00000137992 HGNC:2698 DCXR gene DCXR Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal [Pentosuria] 260800 27604308;22042873;23988570 False 3 0;0;0 8.110 False ENSG00000169738 ENSG00000169738 HGNC:18985 DDC gene DDC Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency, OMIM:608643;Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 27604308;24816252;28100251;30952622 False 3 100;0;0 8.110 False ENSG00000132437 ENSG00000132437 HGNC:2719 DDOST gene DDOST Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ir, OMIM:614507 22305527;34462534 False 3 100;0;0 8.110 False ENSG00000244038 ENSG00000244038 HGNC:2728 DGUOK gene DGUOK Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Deoxyguanosine kinase deficiency (Disorders of purine metabolism);Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880;Mitochondrial DNA Depletion Syndrome;Disorders of mitochondrial DNA maintenance and integrity;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 8.110 False ENSG00000114956 ENSG00000114956 HGNC:2858 DHCR24 gene DHCR24 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Desmosterolosis 602398 27604308;11519011;21559050;21671375 False 3 0;0;0 8.110 False ENSG00000116133 ENSG00000116133 HGNC:2859 DHCR7 gene DHCR7 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;IUGR and IGF abnormalities;Smith - Lemli - Opitz syndrome (Disorders of sterol biosynthesis);Disorders of sex development;Cataracts 27604308 False 3 100;0;0 8.110 False ENSG00000172893 ENSG00000172893 HGNC:2860 DHFR gene DHFR Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Dihydrofolate reductase deficiency (Disorders of folate metabolism and transport);Megaloblastic anemia due to dihydrofolate reductase deficiency 27604308 False 3 0;0;0 8.110 False ENSG00000228716 ENSG00000228716 HGNC:2861 DHODH gene DHODH Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Miller syndrome 263750 27604308;19915526;27626380 False 3 0;0;0 8.110 False ENSG00000102967 ENSG00000102967 HGNC:2867 DHRSX gene DHRSX Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 1DD, OMIM:301133 38821050 False 3 50;0;50 8.110 False ENSG00000169084 ENSG00000169084 HGNC:18399 DHTKD1 gene DHTKD1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal 2-Oxoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism);2-Aminoadipic aciduria (Disorders of histidine, tryptophan or lysine metabolism);2-aminoadipic and 2-oxoadipic aciduria, 204750 27604308 False 3 25;25;50 8.110 False ENSG00000181192 ENSG00000181192 HGNC:23537 DLAT gene DLAT Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Dihydrolipoyl transacetylase deficiency (Disorders of pyruvate metabolism);Pyruvate dehydrogenase E2 deficiency, 245348 27604308 False 3 100;0;0 8.110 False ENSG00000150768 ENSG00000150768 HGNC:2896 DLD gene DLD Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Dihydrolipoamide dehydrogenase deficiency, OMIM:246900;Dihydrolipoyl dehydrogenase deficiency (Disorders of pyruvate metabolism);Leigh syndrome 27604308 False 3 100;0;0 8.110 False ENSG00000091140 ENSG00000091140 HGNC:2898 DNA2 gene DNA2 Expert Review Green Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 6;615156;Disorders of mitochondrial DNA maintenance and integrity False 3 100;0;0 8.110 False ENSG00000138346 ENSG00000138346 HGNC:2939 DNAJC12 gene DNAJC12 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, mild, non-BH4-deficient, 617384 28132689 False 3 0;0;0 8.110 False ENSG00000108176 ENSG00000108176 HGNC:28908 DNAJC19 gene DNAJC19 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type V, 610198;Disorders of the mitochondrial import system;3-methylglutaconic aciduria, type V 27604308;27426421;16055927;27928778 False 3 100;0;0 8.110 False ENSG00000205981 ENSG00000205981 HGNC:30528 DNAJC5 gene DNAJC5 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350 27604308;21820099 False 3 0;0;0 8.110 False ENSG00000101152 ENSG00000101152 HGNC:16235 DNM1L gene DNM1L Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388;Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission;Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 8.110 False ENSG00000087470 ENSG00000087470 HGNC:2973 DNM2 gene DNM2 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Centronuclear myopathy 1 160150;Charcot-Marie-Tooth disease, axonal type 2M 606482;Charcot-Marie-Tooth disease, dominant intermediate B 606482" 18560793;17932957;17636067;17008356;16227997;15731758 False 3 100;0;0 8.110 False ENSG00000079805 ENSG00000079805 HGNC:2974 DOLK gene DOLK Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Im 610768;Dolichol kinase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 24144945;22242004 False 3 0;0;0 8.110 False ENSG00000175283 ENSG00000175283 HGNC:23406 DPAGT1 gene DPAGT1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 13, with tubular aggregates 614750;UDP-GlcNAc:Dol-P-GlcNac-P transferase deficiency (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Ij 608093 27604308 False 3 0;0;0 8.110 False ENSG00000172269 ENSG00000172269 HGNC:2995 DPM1 gene DPM1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ie, OMIM:608799;GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 27604308 False 3 0;0;0 8.110 False ENSG00000000419 ENSG00000000419 HGNC:3005 DPM2 gene DPM2 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iu, OMIM:615042 23109149;33129689 False 3 0;0;0 8.110 True ENSG00000136908 ENSG00000136908 HGNC:3006 DPM3 gene DPM3 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937 19576565;28803818 False 3 0;0;0 8.110 False ENSG00000179085 ENSG00000179085 HGNC:3007 DPYD gene DPYD Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidine dehydrogenase deficiency 274270;Dihydropyrimidine dehydrogenase deficiency (Disorders of pyrimidine metabolism) 27604308 False 3 100;0;0 8.110 False ENSG00000188641 ENSG00000188641 HGNC:3012 DPYS gene DPYS Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidinuria, OMIM:222748;Dihydropyrimidinase deficiency (Disorders of pyrimidine metabolism) 27604308;32600357 False 3 0;0;0 8.110 False ENSG00000147647 ENSG00000147647 HGNC:3013 DYM gene DYM Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Encephalopahty, lethal, due to defective mitochondrial peroxisomal fission, 614388;Dyggve-Melchior-Clausen disease, 223800;Smith-McCort dysplasia, 607326 False 3 0;100;0 8.110 False ENSG00000141627 ENSG00000141627 HGNC:21317 EARS2 gene EARS2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 12, 614924;Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 27604308 False 3 100;0;0 8.110 False ENSG00000103356 ENSG00000103356 HGNC:29419 EBP gene EBP Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MEND syndrome 300960 XLR;Chondrodysplasia punctata, X-linked dominant 302960 XLD;X-linked dominant chondrodysplasia punctata 2 (Disorders of sterol biosynthesis) 27604308 False 3 0;0;0 8.110 False ENSG00000147155 ENSG00000147155 HGNC:3133 ECHS1 gene ECHS1 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277 False 3 100;0;0 8.110 False ENSG00000127884 ENSG00000127884 HGNC:3151 EDEM3 gene EDEM3 Expert Review Green;NHS GMS;Other Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type 2V, OMIM:619493 34143952 False 3 100;0;0 8.110 False ENSG00000116406 ENSG00000116406 HGNC:16787 EHBP1L1 gene EHBP1L1 Expert Review Green;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal non-immune hydrops fetalis MONDO:0009369 34645488;26833786;https://dmdd.org.uk/mutants/Ehbp1l1 False 3 100;0;0 8.110 False ENSG00000173442 ENSG00000173442 HGNC:30682 ELAC2 gene ELAC2 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal infantile hypertrophic cardiomyopathy, lactic acidosis, and isolated complex I deficiency;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 17, 615440 False 3 100;0;0 8.110 False ENSG00000006744 ENSG00000006744 HGNC:14198 ENO3 gene ENO3 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Glycogen storage disease XIII 27604308;25267339;11506403;25929793 False 3 100;0;0 8.110 False ENSG00000108515 ENSG00000108515 HGNC:3354 EOGT gene EOGT Expert list;Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Adams-Oliver syndrome 4 OMIM:615297;Adams-Oliver syndrome 4 MONDO:0014124 23522784;31368252;29924900 False 3 100;0;0 8.110 False ENSG00000163378 ENSG00000163378 HGNC:28526 EPG5 gene EPG5 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Vici syndrome, 242840;IMMUNODEFICIENCY WITH CLEFT LIP/PALATE, CATARACT, HYPOPIGMENTATION, AND ABSENT CORPUS CALLOSUM 28624465;23222957;26917586;23674064;25331754;23838600;26395118 False 3 0;0;0 8.110 False ENSG00000152223 ENSG00000152223 HGNC:29331 EPM2A gene EPM2A Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Myoclonic epilepsy of Lafora 1, OMIM:254780 27604308 False 3 0;0;0 8.110 False ENSG00000112425 ENSG00000112425 HGNC:3413 ETFA gene ETFA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIA, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 25929793;27604308 False 3 100;0;0 8.110 False ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB, OMIM:231680;multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 7912128;12815589;25929793;27604308 False 3 50;0;50 8.110 False ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only));GLUTARIC ACIDURIA TYPE 2C;Glutaric acidemia IIC;Disorders of ubiquinone metabolism and biosynthesis;ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation) 27604308;24816252 False 3 100;0;0 8.110 False ENSG00000171503 ENSG00000171503 HGNC:3483 ETHE1 gene ETHE1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Ethylmalonic encephalopathy, 602473;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Isolated complex IV deficiency;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Ethylmalonic encephalopathy 27604308 False 3 100;0;0 8.110 False ENSG00000105755 ENSG00000105755 HGNC:23287 EXT1 gene EXT1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Multiple exostoses type I (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies);Exostoses, multiple, type 1 133700 27604308 False 3 0;0;0 8.110 False ENSG00000182197 ENSG00000182197 HGNC:3512 EXT2 gene EXT2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Multiple exostoses type II (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies);Exostoses, multiple, type 2 133701;?Seizures, scoliosis, and macrocephaly syndrome 616682 12417417 False 3 0;0;0 8.110 False ENSG00000151348 ENSG00000151348 HGNC:3513 FA2H gene FA2H Expert list;Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 35, autosomal recessive, OMIM:612319;hereditary spastic paraplegia 35, MONDO:0012866 27604308 False 3 0;0;100 8.110 False ENSG00000103089 ENSG00000103089 HGNC:21197 FAH gene FAH Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Tyrosinemia, type I 27604308 False 3 0;0;0 8.110 False ENSG00000103876 ENSG00000103876 HGNC:3579 FARS2 gene FARS2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Combined oxidative phosphorylation deficiency 14, 614946 27604308 False 3 100;0;0 8.110 False ENSG00000145982 ENSG00000145982 HGNC:21062 FASTKD2 gene FASTKD2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 44, OMIM:618855 27604308 False 3 100;0;0 8.110 False ENSG00000118246 ENSG00000118246 HGNC:29160 FBP1 gene FBP1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen Storage Disease;Glycogen Storage Disorders- Liver;Fructose-1,6-bisphosphatase deficiency (Disorders of gluconeogenesis) 27604308 False 3 0;0;0 8.110 False ENSG00000165140 ENSG00000165140 HGNC:3606 FBXL4 gene FBXL4 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) OMIM:615471;mitochondrial DNA depletion syndrome 13 MONDO:0014198 False 3 100;0;0 8.110 False ENSG00000112234 ENSG00000112234 HGNC:13601 FDX2 gene FDX2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy OMIM:251900;mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0020714 24281368;28803783;30010796 False 3 50;50;0 8.110 False ENSG00000267673 ENSG00000267673 HGNC:30546 FDXR gene FDXR Expert list;Expert Review;Expert Review Green;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Auditory neuropathy and optic atrophy, OMIM:617717;Multiple mitochondrial dysfunctions syndrome 9B, OMIM:620887 28965846 False 3 100;0;0 8.110 False ENSG00000161513 ENSG00000161513 HGNC:3642 FECH gene FECH Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Protoporphyria, erythropoietic, 1, OMIM:177000;protoporphyria, erythropoietic, 1, MONDO:0008319 7857832;11753383;16385445;16911284;27604308;32873934;38940544;39969427 False 3 100;0;0 8.110 False ENSG00000066926 ENSG00000066926 HGNC:3647 FGFR2 gene FGFR2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410;Apert syndrome 101200;Beare-Stevenson cutis gyrata syndrome 123790;Bent bone dysplasia syndrome 614592;Craniofacial-skeletal-dermatologic dysplasia 101600;Craniosynostosis, nonspecific;Crouzon syndrome 123500;Gastric cancer, somatic 613659;Jackson-Weiss syndrome 123150;LADD syndrome 149730;Pfeiffer syndrome 101600;Saethre-Chotzen syndrome 101400;Scaphocephaly and Axenfeld-Rieger anomaly;Scaphocephaly, maxillary retrusion, and mental retardation 609579" 27604308 False 3 0;0;0 8.110 False ENSG00000066468 ENSG00000066468 HGNC:3689 FH gene FH Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Fumarase deficiency, OMIM:606812;Disorders of the citric acid cycle 27604308 False 3 100;0;0 8.110 False ENSG00000091483 ENSG00000091483 HGNC:3700 FKRP gene FKRP Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612;Fukutin-related protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153 27604308 False 3 0;0;0 8.110 False ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 613152;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 253800;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 611588;Fukutin deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 27604308 False 3 0;0;0 8.110 False ENSG00000106692 ENSG00000106692 HGNC:3622 FLAD1 gene FLAD1 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Multiple acyl-CoA dehydrogenase deficiencies (MADDs) PubMed: 27259049 False 3 0;100;0 8.110 False ENSG00000160688 ENSG00000160688 HGNC:24671 FMO3 gene FMO3 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Trimethylaminuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) 27604308 False 3 100;0;0 8.110 False ENSG00000007933 ENSG00000007933 HGNC:3771 FOLR1 gene FOLR1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Neurodegeneration due to cerebral folate transport deficiency, 613068;Cerebral folate deficiency due to FOLR1 deficiency (Disorders of folate metabolism and transport) 27604308 False 3 0;0;0 8.110 False ENSG00000110195 ENSG00000110195 HGNC:3791 FOXRED1 gene FOXRED1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.110 False ENSG00000110074 ENSG00000110074 HGNC:26927 FTCD gene FTCD Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glutamate formiminotransferase deficiency 229100 27604308;12815595;29178637 False 3 0;0;0 8.110 False ENSG00000160282 ENSG00000160282 HGNC:3974 FUCA1 gene FUCA1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Fucosidosis, 230000 False 3 0;0;0 8.110 False ENSG00000179163 ENSG00000179163 HGNC:4006 FUK gene FUK Expert list;Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation with defective fucosylation 2 OMIM:618324;congenital disorder of glycosylation with defective fucosylation 2 MONDO:0020777 30503518;35718084;36426412 False 3 67;33;0 8.110 False ENSG00000157353 ENSG00000157353 HGNC:29500 FUT8 gene FUT8 Expert Review;Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation with defective fucosylation, 618005 29304374 False 3 100;0;0 8.110 False ENSG00000033170 ENSG00000033170 HGNC:4019 FXN gene FXN Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia OMIM:229300;Friedreich ataxia with retained reflexes OMIM:229300;Friedreich ataxia 1 MONDO:0100340 27604308 False 3 75;0;25 8.110 False ENSG00000165060 ENSG00000165060 HGNC:3951 G6PC gene G6PC Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ia, OMIM:232200 27604308 False 3 0;0;0 8.110 False ENSG00000131482 ENSG00000131482 HGNC:4056 G6PC3 gene G6PC3 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Dursun syndrome False 3 0;0;0 8.110 False ENSG00000141349 ENSG00000141349 HGNC:24861 GAA gene GAA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease II, 232300 False 3 100;0;0 8.110 False ENSG00000171298 ENSG00000171298 HGNC:4065 GABRG2 gene GABRG2 Expert Review Green Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Febrile seizures, familial, 8 611277;Epilepsy, generalized, with febrile seizures plus, type 3 611277;{Epilepsy, childhood absence, susceptibility to, 2} 607681 23708187;16510738;15342642;34957497 False 3 100;0;0 8.110 False ENSG00000113327 ENSG00000113327 HGNC:4087 GALC gene GALC Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Krabbe disease, OMIM:245200 27604308 False 3 0;0;0 8.110 False ENSG00000054983 ENSG00000054983 HGNC:4115 GALE gene GALE Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Uridine diphosphate galactose-4-epimerase deficiency (Disorders of galactose metabolism);Galactose epimerase deficiency, OMIM:230350;MONDO:0009257 27604308 False 3 0;0;0 8.110 False ENSG00000117308 ENSG00000117308 HGNC:4116 GALK1 gene GALK1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Galactokinase deficiency with cataracts, 230200 False 3 0;0;0 8.110 False ENSG00000108479 ENSG00000108479 HGNC:4118 GALM gene GALM Expert Review;Expert Review Green;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Galactosemia IV, OMIM:618881;MONDO:0030105 30451973;30910422 False 3 100;0;0 8.110 False ENSG00000143891 ENSG00000143891 HGNC:24063 GALNS gene GALNS Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 4A;Mucopolysaccharidosis Type IVA;Mucopolysaccharidosis IVA, 253000;Mucopolysaccharidosis, Type IV;MPS IVA, Morquio A disease (MPS IV, Morquio disease) 27604308 False 3 0;0;0 8.110 False ENSG00000141012 ENSG00000141012 HGNC:4122 GALNT2 gene GALNT2 Expert Review Green;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIt 618885 27508872;32293671 False 3 100;0;0 8.110 False ENSG00000143641 ENSG00000143641 HGNC:4124 GALNT3 gene GALNT3 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Polypeptide N-acetylgalactosaminyl transferase deficiency (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies);Tumoral calcinosis, hyperphosphatemic, familial 211900 15133511 False 3 0;0;0 8.110 False ENSG00000115339 ENSG00000115339 HGNC:4125 GALT gene GALT Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Galactosemia, OMIM:230400 27604308 False 3 0;0;0 8.110 False ENSG00000213930 ENSG00000213930 HGNC:4135 GAMT gene GAMT Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 2 612736 27604308;17101918;15651030;8651275 False 3 100;0;0 8.110 False ENSG00000130005 ENSG00000130005 HGNC:4136 GARS gene GARS Expert Review Green Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, type 2D;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Neuropathy, distal hereditary motor, type VA False 3 100;0;0 8.110 False ENSG00000106105 ENSG00000106105 HGNC:4162 GATM gene GATM Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Arginine:glycine amidinotransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism);arginine:glycine amidinotransferase deficiency;Cerebral creatine deficiency syndrome 3, 612718 27604308 False 3 100;0;0 8.110 False ENSG00000171766 ENSG00000171766 HGNC:4175 GBA gene GBA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Gaucher disease, perinatal lethal, 608013;Gaucher disease, type III, 231000;Gaucher disease, type II, 230900;Gaucher disease, type I, 230800;Gaucher disease, type IIIC, 231005;Gaucher disease;Gaucher disease (Sphingolipidoses) 27604308 False 3 0;0;0 8.110 False ENSG00000177628 ENSG00000177628 HGNC:4177 GBE1 gene GBE1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, OMIM:232500;Polyglucosan body disease, adult form, OMIM:263570 27604308 False 3 100;0;0 8.110 False ENSG00000114480 ENSG00000114480 HGNC:4180 GCDH gene GCDH Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glutaricaciduria, type I, 231670 False 3 0;0;0 8.110 False ENSG00000105607 ENSG00000105607 HGNC:4189 GCH1 gene GCH1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dystonia, DOPA-responsive, with or without hyperphenylalaninemia 27604308 False 3 0;0;0 8.110 False ENSG00000131979 ENSG00000131979 HGNC:4193 GCLC gene GCLC Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Gamma-glutamylcysteine synthetase deficiency (Disorders of the gamma-glutamyl cycle);Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency 230450 27604308 False 3 100;0;0 8.110 False ENSG00000001084 ENSG00000001084 HGNC:4311 GCSH gene GCSH Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 7, OMIM:620423;Glycine encephalopathy;Transient neonatal hyperglycinemia 27604308;16450403;36190515 False 3 67;0;33 8.110 False ENSG00000140905 ENSG00000140905 HGNC:4208 GDAP1 gene GDAP1 Expert Review Green Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2K, OMIM:607831;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, OMIM:607706;Charcot-Marie-Tooth disease, recessive intermediate, A, OMIM:608340;Charcot-Marie-Tooth disease, type 4A, OMIM:214400 PMID: 11743579 False 3 67;0;33 8.110 False ENSG00000104381 ENSG00000104381 HGNC:15968 GFER gene GFER Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Disorders of the mitochondrial import system;Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay,613076;Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 8.110 False ENSG00000127554 ENSG00000127554 HGNC:4236 GFM1 gene GFM1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 1, 609060;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 8.110 False ENSG00000168827 ENSG00000168827 HGNC:13780 GFM2 gene GFM2 Expert Review Green;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 39, OMIM:618397 22700954;26016410;29075935 False 3 100;0;0 8.110 False ENSG00000164347 ENSG00000164347 HGNC:29682 GFPT1 gene GFPT1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Myasthenia, congenital, 12, with tubular aggregates(Disorders of protein N-glycosylation) 610542;Congenital myasthenic sydrome (Disorders of protein N-glycosylation) 27604308 False 3 0;0;0 8.110 False ENSG00000198380 ENSG00000198380 HGNC:4241 GIF gene GIF Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Intrinsic factor deficiency 27604308 False 3 0;0;0 8.110 False ENSG00000134812 ENSG00000134812 HGNC:4268 GK gene GK Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Glycerol kinase deficiency 307030 27604308;8651297;9719371;10737976;10736265 False 3 0;0;0 8.110 False ENSG00000198814 ENSG00000198814 HGNC:4289 GLA gene GLA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fabry disease, cardiac variant, 301500;Fabry Disease;Fabry disease (Sphingolipidoses);Fabry disease, 301500 27604308 False 3 0;0;0 8.110 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLB1 gene GLB1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 4B;MPS IVB, Morquio B disease (MPS IV, Morquio disease);Mucopolysaccharidosis type IVB (Morquio), 253010;GM1-gangliosidosis (Sphingolipidoses);GM1-gangliosidosis, type II, 230600;GM1-gangliosidosis, type III, 230650;Mucopolysaccharidosis, Type IV;Mucopolysaccharidosis Type IVB;GM1-gangliosidosis, type I, 230500 27604308 False 3 0;0;0 8.110 False ENSG00000170266 ENSG00000170266 HGNC:4298 GLDC gene GLDC Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy, 605899 False 3 0;0;0 8.110 False ENSG00000178445 ENSG00000178445 HGNC:4313 GLRA1 gene GLRA1 Expert Review Green Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia, hereditary 1, 149400 False 3 100;0;0 8.110 False ENSG00000145888 ENSG00000145888 HGNC:4326 GLRX5 gene GLRX5 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive, 205950;Disorders of iron homeostasis 27604308 False 3 100;0;0 8.110 False ENSG00000182512 ENSG00000182512 HGNC:20134 GLS gene GLS Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412;Developmental and epileptic encephalopathy 71, OMIM:618328;?Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development, OMIM:618339 29468182;30970188;30575854;30239721 False 3 67;33;0 8.110 False ENSG00000115419 ENSG00000115419 HGNC:4331 GLUD1 gene GLUD1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinemic hypoglycemia and hyperammonemia (Urea cycle disorders and inherited hyperammonaemias);Hyperinsulinism-hyperammonemia syndrome, 606762 27604308 False 3 33;0;67 8.110 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000148672 ENSG00000148672 HGNC:4335 GLUL gene GLUL Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glutamine deficiency, congenital 610015 27604308;16267323;21353613 False 3 0;0;0 8.110 False ENSG00000135821 ENSG00000135821 HGNC:4341 GLYCTK gene GLYCTK Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal D-glyceric aciduria 220120;D-glyceric aciduria (Disorders of serine, glycine or glycerate metabolism) 27604308 False 3 100;0;0 8.110 False ENSG00000168237 ENSG00000168237 HGNC:24247 GM2A gene GM2A Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, AB variant, 272750 False 3 0;0;0 8.110 False ENSG00000196743 ENSG00000196743 HGNC:4367 GMPPA gene GMPPA Expert list;Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Alacrima, achalasia, and mental retardation syndrome (MIM# 615510) 24035193;28574218 False 3 100;0;0 8.110 False ENSG00000144591 ENSG00000144591 HGNC:22923 GMPPB gene GMPPB Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 OMIM:615350;muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 MONDO:0014140;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 OMIM:615351;muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B14 MONDO:0014141;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 OMIM:615352;autosomal recessive limb-girdle muscular dystrophy type 2T MONDO:0014142" False 3 0;0;0 8.110 False ENSG00000173540 ENSG00000173540 HGNC:22932 GNE gene GNE Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Sialuria OMIM:269921;sialuria MONDO:0010028;Nonaka myopathy OMIM:605820;GNE myopathy MONDO:0011603 26721333 False 3 0;0;0 8.110 False ENSG00000159921 ENSG00000159921 HGNC:23657 GNMT gene GNMT Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal "Glycine N-methyltransferase deficiency 606664" 27604308;17660255;11810299;14739680 False 3 0;0;0 8.110 False ENSG00000124713 ENSG00000124713 HGNC:4415 GNPAT gene GNPAT Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata type 2 (Peroxisomal disorders);Rhizomelic chondrodysplasia punctata, type 2 222765 27604308 False 3 0;0;0 8.110 False ENSG00000116906 ENSG00000116906 HGNC:4416 GNPTAB gene GNPTAB Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mucolipidosis, Type II;Mucolipidosis, Type III Alpha/Beta;Mucolipidosis III alpha/beta;Mucolipidosis II, I-cell disease (Other lysosomal disorders);Mucolipidosis II alpha/beta 27604308 False 3 0;0;0 8.110 False ENSG00000111670 ENSG00000111670 HGNC:29670 GNPTG gene GNPTG Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mucolipidosis III, Pseudo-Hurler polydystrophy (Other lysosomal disorders);mucolipidpsis type III complementation group C;Mucolipidosis, Type III Gamma;Mucolipidosis III gamma 27604308 False 3 0;0;0 8.110 False ENSG00000090581 ENSG00000090581 HGNC:23026 GNS gene GNS Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIID, OMIM:252940 27604308 False 3 0;0;0 8.110 False ENSG00000135677 ENSG00000135677 HGNC:4422 GORAB gene GORAB Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Geroderma osteodysplasticum OMIM:231070;geroderma osteodysplastica MONDO:0009271 26000619;18348262;28807865;30631079 False 3 100;0;0 8.110 False ENSG00000120370 ENSG00000120370 HGNC:25676 GPD1 gene GPD1 Expert Review Green;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hypertriglyceridemia, transient infantile, 614480 24549054;22226083 False 3 0;0;0 8.110 False ENSG00000167588 ENSG00000167588 HGNC:4455 GPHN gene GPHN Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Molybdenum cofactor deficiency C, OMIM:615501;Mo cofactor deficiency, complementation group C (Disorders of molybdenum cofactor metabolism) 27604308;26613940;24561070;25866352;23393157;23275889;11095995;22040219 False 3 100;0;0 8.110 False ENSG00000171723 ENSG00000171723 HGNC:15465 GPIHBP1 gene GPIHBP1 Expert list;Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hyperlipoproteinemia, type 1D OMIM:615947;hyperlipoproteinemia, type 1D MONDO:0014412 False 3 100;0;0 8.110 False ENSG00000182851 ENSG00000277494 HGNC:24945 GRHPR gene GRHPR Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Primary hyperoxaluria type II (Disorders of glyoxylate metabolism);Hyperoxaluria, primary, type II 27604308 False 3 0;0;0 8.110 False ENSG00000137106 ENSG00000137106 HGNC:4570 GRN gene GRN Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal "Ceroid lipofuscinosis, neuronal, 11 OMIM:614706;neuronal ceroid lipofuscinosis 11 MONDO:0013866" 22608501;27021778;28000352;28404863;30922528;31855245 False 3 67;33;0 8.110 False ENSG00000030582 ENSG00000030582 HGNC:4601 GSS gene GSS Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glutathione synthetase (GSS) deficiency;Glutathione synthetase deficiency 266130;Glutathione synthetase deficiency with 5-oxoprolinuria;Glutathione synthetase deficiency without 5-oxoprolinuria;Pyroglutamic aciduria;5-oxoprolinuria;Hemolytic anemia due to glutathione synthetase deficiency 231900;Glutathione synthetase deficiency (Disorders of the gamma-glutamyl cycle);Fanconi nephropathy 27604308 False 3 100;0;0 8.110 False ENSG00000100983 ENSG00000100983 HGNC:4624 GSTZ1 gene GSTZ1 Eligibility statement prior genetic testing;Expert Review;Expert Review Green;Literature;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal [Maleylacetoacetate isomerase deficiency], OMIM:617596 27876694 False 3 100;0;0 8.110 False ENSG00000100577 ENSG00000100577 HGNC:4643 GTPBP3 gene GTPBP3 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 23 616198 False 3 100;0;0 8.110 True ENSG00000130299 ENSG00000130299 HGNC:14880 GUK1 gene GUK1 Expert Review Green;Literature;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 21, OMIM:621071;mitochondrial dna depletion syndrome 21, MONDO:0976132 39230499 False 3 100;0;0 8.110 False ENSG00000143774 ENSG00000143774 HGNC:4693 GUSB gene GUSB Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal MUCOPOLYSACCHARIDOSIS TYPE 7;Mucopolysaccharidosis VII, 253220;MPS VII, Sly disease (MPS IV, Morquio disease);Mucopolysaccharidosis Type VII;Mucopolysaccharidosis, Type VII 27604308 False 3 0;0;0 8.110 False ENSG00000169919 ENSG00000169919 HGNC:4696 GYG1 gene GYG1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Glycogen storage disease XV False 3 100;0;0 8.110 False ENSG00000163754 ENSG00000163754 HGNC:4699 GYS1 gene GYS1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease 0, muscle 27604308;21958591;24579562 False 3 100;0;0 8.110 False ENSG00000104812 ENSG00000104812 HGNC:4706 GYS2 gene GYS2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen Storage Disease;Glycogen Storage Disease Type 0, Liver;Glycogen Storage Disorders- Liver;Glycogen storage disease type 0a, liver (Glycogen storage disorders);Glycogen storage disease, type 0, 240600;fasting intolerance without enlarged liver 27604308 False 3 0;0;0 8.110 False ENSG00000111713 ENSG00000111713 HGNC:4707 HAAO gene HAAO Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple congenital malformations;VACTERL-like phenotype 27604308;17334708;28792876 False 3 0;0;0 8.110 False ENSG00000162882 ENSG00000162882 HGNC:4796 HADH gene HADH Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal 3-hydroxyacyl-CoA dehydrogenase deficiency 231530;Hyperinsulinemic hypoglycemia, familial, 4 609975 27604308;11489939;26316438;23430856;23506826;25915078;26316438;27181376 False 3 0;0;100 8.110 False ENSG00000138796 ENSG00000138796 HGNC:4799 HADHA gene HADHA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation);Trifunctional protein deficiency 609015 27604308 False 3 50;0;50 8.110 False ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation);Trifunctional protein deficiency 609015 27604308 False 3 50;0;50 8.110 False ENSG00000138029 ENSG00000138029 HGNC:4803 HAMP gene HAMP Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2B 613313;Hereditary haemochromatosis Type 2 (Disorder of iron metabolism) 27604308 False 3 100;0;0 8.110 False ENSG00000105697 ENSG00000105697 HGNC:15598 HARS2 gene HARS2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis);?Perrault syndrome 2 614926;Perrault syndrome 2, 614926 27650058;21464306 False 3 33;33;33 8.110 False ENSG00000112855 ENSG00000112855 HGNC:4817 HCCS gene HCCS Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic 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 1;Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Microphthalmia, syndromic 7, 309801 27604308 False 3 100;0;0 8.110 False ENSG00000004961 ENSG00000004961 HGNC:4837 HCFC1 gene HCFC1 Expert Review Green Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) 309541 False 3 100;0;0 8.110 False ENSG00000172534 ENSG00000172534 HGNC:4839 HEXA gene HEXA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, several forms, 272800;Tay-Sachs disease, 272800 False 3 0;0;0 8.110 False ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 27604308 False 3 0;0;0 8.110 False ENSG00000049860 ENSG00000049860 HGNC:4879 HFE gene HFE Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, OMIM:235200 27604308 False 3 100;0;0 8.110 False ENSG00000010704 ENSG00000010704 HGNC:4886 HFE2 gene HFE2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2A, 602390;Hereditary haemochromatosis Type 2 (Disorder of iron metabolism) 27604308 False 3 100;0;0 8.110 False ENSG00000168509 ENSG00000168509 HGNC:4887 HGD gene HGD Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Alkaptonuria 27604308 False 3 0;0;0 8.110 False ENSG00000113924 ENSG00000113924 HGNC:4892 HGSNAT gene HGSNAT Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Type III;Mucopolysaccharidosis, Type III;Retinitis Pigmentosa 73;Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930;Mucopolysaccharidosis Type IIIC;MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses) 27604308 False 3 0;0;0 8.110 False ENSG00000165102 ENSG00000165102 HGNC:26527 HIBCH gene HIBCH Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620;HIBCH deficiency;Methacrylic aciduria (Organic acidurias) 27604308 False 3 100;0;0 8.110 False ENSG00000198130 ENSG00000198130 HGNC:4908 HLCS gene HLCS Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Holocarboxylase synthetase deficiency;Holocarboxylase synthetase deficiency, 253270;lactic acidosis with seizures and eczema, immune deficiency;Holocarboxylase synthetase deficiency (Disorders of biotin metabolism) 27604308 False 3 100;0;0 8.110 False ENSG00000159267 ENSG00000159267 HGNC:4976 HMBS gene HMBS Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Porphyria, acute intermittent OMIM:176000;acute intermittent porphyria MONDO:0008294;Leukoencephalopathy, porphyria-related OMIM:620711;leukoencephalopathy, porphyria-related, MONDO:0958226;Encephalopathy, porphyria-related, OMIM:620704;encephalopathy, porphyria-related, MONDO:0958224 27604308;38940544;27539938;14262853;1577472;15534187;14970743;27558376;31153822;34089223;2511016;1714233 False 3 100;0;0 8.110 False ENSG00000256269 ENSG00000256269 HGNC:4982 HMGCL gene HMGCL Expert Review Green;London North GLH;NHS GMS;Other Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal 3-Hydroxy-3-methyl glutaric aciduria (Organic acidurias);3-Hydroxy-3-methylglutaryl-CoA lyase deficiency;HMG-CoA lyase deficiency, 246450;HMGCLD 27604308 False 3 67;0;33 8.110 False ENSG00000117305 ENSG00000117305 HGNC:5005 HMGCS2 gene HMGCS2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal HMG-CoA synthase-2 deficiency 27604308 False 3 0;0;100 8.110 False ENSG00000134240 ENSG00000134240 HGNC:5008 HOGA1 gene HOGA1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria Type III (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Hyperoxaluria, primary, type III 613616 27604308 False 3 0;0;0 8.110 False ENSG00000241935 ENSG00000241935 HGNC:25155 HPD gene HPD Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hawkinsinuria 140350;Tyrosinemia, type III 276710" 27604308;10942115;11073718;26226126;30984715;17560158 False 3 0;0;0 8.110 False ENSG00000158104 ENSG00000158104 HGNC:5147 HPDL gene HPDL Expert Review Green;Literature;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities OMIM:619026;Spastic paraplegia 83, autosomal recessive OMIM:619027 32707086 False 3 100;0;0 8.110 False ENSG00000186603 ENSG00000186603 HGNC:28242 HPRT1 gene HPRT1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Hyperuricemia, HRPT-related, OMIM:300323;Lesch-Nyhan syndrome, OMIM:300322 27604308 False 3 0;0;0 8.110 False ENSG00000165704 ENSG00000165704 HGNC:5157 HPS1 gene HPS1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 1 203300 27604308;8896559;9562579;9705234;10971344 False 3 0;0;0 8.110 False ENSG00000107521 ENSG00000107521 HGNC:5163 HS2ST1 gene HS2ST1 Expert Review Green;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;dysmorphic features;congenital anomalies 33159882 False 3 0;100;0 8.110 False ENSG00000153936 ENSG00000153936 HGNC:5193 HSD11B2 gene HSD11B2 ClinGen;Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Apparent mineralocorticoid excess, OMIM:218030;apparent mineralocorticoid excess, MONDO:0009025 7670488;7608290;9683587;17314322 False 3 100;0;0 8.110 False ENSG00000176387 ENSG00000176387 HGNC:5209 HSD17B10 gene HSD17B10 Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) HSD10 mitochondrial disease, OMIM:300438 19706438;22132097;12696021;26950678;27604308 False 3 100;0;0 8.110 False ENSG00000072506 ENSG00000072506 HGNC:4800 HSD17B4 gene HSD17B4 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal D-bifunctional protein deficiency, 261515;Peroxisomal D-bifunctional protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) 27604308 False 3 0;0;0 8.110 False ENSG00000133835 ENSG00000133835 HGNC:5213 HSD3B7 gene HSD3B7 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal 3- ?-hydroxysterol ?5-oxidoreductase/isomerase deficiency (Disorders of bile acid biosynthesis);Bile acid synthesis defect, congenital, 1, 607765 27604308 False 3 100;0;0 8.110 False ENSG00000099377 ENSG00000099377 HGNC:18324 HSPA9 gene HSPA9 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Even-plus syndrome, OMIM:616854 26598328;32869452;35779070;36052765 False 3 100;0;0 8.110 False ENSG00000113013 ENSG00000113013 HGNC:5244 HSPD1 gene HSPD1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 4, OMIM:612233 (AR);Spastic paraplegia 13, autosomal dominant, OMIM:605280 (AD) 27604308 False 3 100;0;0 8.110 False ENSG00000144381 ENSG00000144381 HGNC:5261 HTRA2 gene HTRA2 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type VIII 617248 27208207;27696117 False 3 100;0;0 8.110 False ENSG00000115317 ENSG00000115317 HGNC:14348 HYAL1 gene HYAL1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Mucopolysaccharidosis type IX, 601492;MPS IX, Natowicz (MPS IV, Morquio disease) 27604308 False 3 100;0;0 8.110 False ENSG00000114378 ENSG00000114378 HGNC:5320 IARS2 gene IARS2 Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal CAGSSS - Cataracts (CA), growth hormone deficiency (G), sensory neuropathy (S), sensorineural hearing loss (S), and skeletal dysplasia (S);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));No OMIM phenotype PMID: 25130867 (3 related cases with CAGSSS homozygous for a rare nonsynonymous variant in this gene, an unrelated case with Leigh syndrome compound heterozygous for variants within this gene);PMID: 27078007 (full text not available to confirm findings). False 3 100;0;0 8.110 False ENSG00000067704 ENSG00000067704 HGNC:29685 IBA57 gene IBA57 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 3, OMIM:615330;?Spastic paraplegia 74, autosomal recessive, OMIM:616451 23462291;25971455 False 3 100;0;0 8.110 False ENSG00000181873 ENSG00000181873 HGNC:27302 IDH2 gene IDH2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mitochondrial isocitrate dehydrogenase deficiency (Organic acidurias);D-2-hydroxyglutaric aciduria 2, 613657 24049096;20847235 False 3 100;0;0 8.110 False ENSG00000182054 ENSG00000182054 HGNC:5383 IDH3A gene IDH3A Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 90, OMIM:619007;retinitis pigmentosa 90, MONDO:0033563 31012789;30478029;30058936;28412069;28058510 False 3 100;0;0 8.110 False ENSG00000166411 ENSG00000166411 HGNC:5384 IDS gene IDS Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females MUCOPOLYSACCHARIDOSIS TYPE 2;MPS II, Hunter disease (Mucopolysaccharidoses);Mucopolysaccharidosis II, 309900;Mucopolysaccharidosis Type II 27604308 False 3 0;0;0 8.110 False ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hurler syndrome;Mucopolysaccharidosis type 1H/S;MPS I, Hurler, Scheie disease (Mucopolysaccharidoses);Scheie syndrome;Hurler-Scheie syndrome;Mucopolysaccharidosis type 1S;Mucopolysaccharidosis type 1H;Mucopolysaccharidosis Ih/s, 607015;Mucopolysaccharidosis, Type I;Mucopolysaccharidosis Is, 607016;Mucopolysaccharidosis Ih, 607014 27604308 False 3 0;0;0 8.110 False ENSG00000127415 ENSG00000127415 HGNC:5391 IER3IP1 gene IER3IP1 Expert Review Green;Other Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome, 614231;MEDS 24138066;22991235;21835305 False 3 67;0;33 8.110 False ENSG00000134049 ENSG00000134049 HGNC:18550 ISCA1 gene ISCA1 Expert list;Expert Review;Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 5, 617613 29767723;28356563 False 3 0;0;0 8.110 False ENSG00000135070 ENSG00000135070 HGNC:28660 ISCA2 gene ISCA2 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 4 616370 25539947;29359243 False 3 100;0;0 8.110 False ENSG00000165898 ENSG00000165898 HGNC:19857 ISCU gene ISCU Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy with lactic acidosis, hereditary, 255125;Disorders of iron homeostasis;Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Rhabdomyolysis and metabolic muscle disorders 18304497;29079705;18296749;19567699;20206689;21165651;22125086 False 3 100;0;0 8.110 False ENSG00000136003 ENSG00000136003 HGNC:29882 ISPD gene ISPD Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 26404900;26687144 False 3 0;0;0 8.110 False ENSG00000214960 ENSG00000214960 HGNC:37276 ITPA gene ITPA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Inosine triphosphatase deficiency (Disorders of purine metabolism);Epileptic encephalopathy, early infantile, 35, 616647;[Inosine triphosphatase deficiency], 613850 27604308 False 3 100;0;0 8.110 False ENSG00000125877 ENSG00000125877 HGNC:6176 IVD gene IVD Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.;Isovaleric acidemia;Isovaleric aciduria (Organic acidurias) 27604308;24816252 False 3 0;0;0 8.110 False ENSG00000128928 ENSG00000128928 HGNC:6186 KARS gene KARS Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 89, 613916;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Charcot-Marie-Tooth disease, recessive intermediate, B (Lysyl-tRNA synthetase mutations) (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Charcot-Marie-Tooth disease, recessive intermediate, B, 613641 27604308 False 3 100;0;0 8.110 False ENSG00000065427 ENSG00000065427 HGNC:6215 KIAA0391 gene KIAA0391 Expert Review Green;Literature;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 54, OMIM:619737 34715011 False 3 100;0;0 8.110 False ENSG00000100890 ENSG00000100890 HGNC:19958 KYNU gene KYNU Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism);VACTERL-like phenotype;multiple congenital malformations;?Hydroxykynureninuria, 236800 27604308;17334708;28792876 False 3 0;0;100 8.110 False ENSG00000115919 ENSG00000115919 HGNC:6469 L2HGDH gene L2HGDH Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal L-2-hydroxyglutaric aciduria, 236792 27604308 False 3 0;0;100 8.110 False ENSG00000087299 ENSG00000087299 HGNC:20499 LAMP2 gene LAMP2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease 27604308 False 3 100;0;0 8.110 False ENSG00000005893 ENSG00000005893 HGNC:6501 LARGE1 gene LARGE1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 608840;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 613154;N-acetylglucosaminyltransferase-like protein deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 27604308 False 3 0;0;0 8.110 False ENSG00000133424 ENSG00000133424 HGNC:6511 LARS gene LARS Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Infantile liver failure syndrome 1, 615438 28774368;30349989;22607940 False 3 100;0;0 8.110 False ENSG00000133706 ENSG00000133706 HGNC:6512 LARS2 gene LARS2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 4, OMIM:615300;Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021;Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only);Multiple respiratory chain complex deficiencies (disorders of protein synthesis 27604308 False 3 100;0;0 8.110 False ENSG00000011376 ENSG00000011376 HGNC:17095 LBR gene LBR Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Reynolds syndrome 613471;Greenberg skeletal dysplasia 215140;Pelger-Huet anomaly 169400;Pelger-Huet anomaly with mild skeletal anomalies 618019 27604308;12118250;14617022;18382993;21327084;14684697;25348816;23824842 False 3 0;0;0 8.110 False ENSG00000143815 ENSG00000143815 HGNC:6518 LCAT gene LCAT Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Norum disease/LCAT deficiency, 245900;Fish-eye disease, 136120;Lecithin cholesterol acyltransferase deficiency (Disorders of high density lipoprotein metabolism) 27604308 False 3 100;0;0 8.110 False ENSG00000213398 ENSG00000213398 HGNC:6522 LCT gene LCT Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Lactose intolerance (Other carbohydrate disorders);Lactase deficiency, congenital, 223000 27604308 False 3 100;0;0 8.110 False ENSG00000115850 ENSG00000115850 HGNC:6530 LDHA gene LDHA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen Storage Disease;Glycogen storage disease XI, 612933;Muscle LDH deficiency (Glycogen storage disorders) 27604308 False 3 100;0;0 8.110 False ENSG00000134333 ENSG00000134333 HGNC:6535 LDLR gene LDLR Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypercholesterolemia, familial, 1 143890;LDL cholesterol level QTL2 143890 27604308;27821657;30311388 False 3 0;0;0 8.110 False ENSG00000130164 ENSG00000130164 HGNC:6547 LDLRAP1 gene LDLRAP1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hypercholesterolemia, familial, 4 603813 27604308;11326085;12016260;12958143;15599766;29245109 False 3 0;0;0 8.110 False ENSG00000157978 ENSG00000157978 HGNC:18640 LETM1 gene LETM1 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089 36055214 False 3 50;25;25 8.110 False ENSG00000168924 ENSG00000168924 HGNC:6556 LFNG gene LFNG Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813;O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) 16385447;29459493;30196550;30531807;33728697;34645488;37038048;38565611 False 3 67;0;33 8.110 False ENSG00000106003 ENSG00000106003 HGNC:6560 LIAS gene LIAS Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase lipoic acid synthetase deficiency, 614462;Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 8.110 False ENSG00000121897 ENSG00000121897 HGNC:16429 LIG3 gene LIG3 Expert Review Green;Literature;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 20 (MNGIE type), OMIM:619780 33855352 False 3 100;0;0 8.110 True ENSG00000005156 ENSG00000005156 HGNC:6600 LIPA gene LIPA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Cholesteryl ester storage disease 27604308 False 3 0;0;0 8.110 False ENSG00000107798 ENSG00000107798 HGNC:6617 LIPT1 gene LIPT1 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Lipoyltransferase 1 deficiency False 3 100;0;0 8.110 False ENSG00000144182 ENSG00000144182 HGNC:29569 LIPT2 gene LIPT2 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 28803783;28757203 False 3 0;100;0 8.110 False ENSG00000175536 ENSG00000175536 HGNC:37216 LMBRD1 gene LMBRD1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblF type, 277380 27604308 False 3 0;0;0 8.110 False ENSG00000168216 ENSG00000168216 HGNC:23038 LMF1 gene LMF1 Expert list;Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Lipase deficiency, combined OMIM:246650;lipase deficiency, combined MONDO:0009527 17994020;19820022;30885219;30420299;29910226;22239554 False 3 100;0;0 8.110 False ENSG00000103227 ENSG00000103227 HGNC:14154 LONP1 gene LONP1 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal CODAS (cerebral, ocular, dental, auricular and skeletal) syndrome (MIM 600373) 25574826;25808063 False 3 100;0;0 8.110 False ENSG00000196365 ENSG00000196365 HGNC:9479 LPIN1 gene LPIN1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Myoglobinuria, acute recurrent, autosomal recessive 27604308 False 3 100;0;0 8.110 False ENSG00000134324 ENSG00000134324 HGNC:13345 LPL gene LPL Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Lipoprotein lipase deficiency, 238600;Combined hyperlipidemia, familial, 144250;Familial lipoprotein lipase deficiency (Familial chylomicronaemia, Inherited hypercholesterolaemias) 27604308 False 3 100;0;0 8.110 False ENSG00000175445 ENSG00000175445 HGNC:6677 LRPPRC gene LRPPRC Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, French-Canadian type, 220111;Mitochondrial Diseases;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Isolated complex IV deficiency;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) 27604308 False 3 100;0;0 8.110 False ENSG00000138095 ENSG00000138095 HGNC:15714 LYRM4 gene LYRM4 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 19, OMIM:615595 23814038;31497476 False 3 100;0;0 8.110 False ENSG00000214113 ENSG00000214113 HGNC:21365 LYRM7 gene LYRM7 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 8;Isolated complex III deficiency;severe encephalopathy, lactic acidosis and profound, isolated cIII deficiency in skeletal muscle;leukoencephalopathy and complex III deficiency;615838 27564080;24014394;28694194;27151179;26912632 False 3 100;0;0 8.110 False ENSG00000186687 ENSG00000186687 HGNC:28072 MAGT1 gene MAGT1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia 300853 27604308;27393411;29581357;25956530;21796205 False 3 0;0;0 8.110 False ENSG00000102158 ENSG00000102158 HGNC:28880 MAN1B1 gene MAN1B1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal MAN1B1-CDG (Disorders of protein N-glycosylation);Mental retardation, autosomal recessive 15 614202 27604308 False 3 0;0;0 8.110 False ENSG00000177239 ENSG00000177239 HGNC:6823 MAN2B1 gene MAN2B1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha-, types I and II 27604308 False 3 0;0;0 8.110 False ENSG00000104774 ENSG00000104774 HGNC:6826 MAN2B2 gene MAN2B2 Expert Review Green;Literature;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation type 1EE with or without immunodeficiency, OMIM:621140 31775018;35637269;38622837 False 3 100;0;0 8.110 False ENSG00000013288 ENSG00000013288 HGNC:29623 MANBA gene MANBA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal "Mannosidosis, beta 248510" 27604308 False 3 0;0;0 8.110 False ENSG00000109323 ENSG00000109323 HGNC:6831 MAOA gene MAOA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Brunner syndrome 300615;{Antisocial behavior} 300615 27604308;8211186;24169519;25807999 False 3 0;0;0 8.110 False ENSG00000189221 ENSG00000189221 HGNC:6833 MARS2 gene MARS2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Spastic Ataxia 13, autosomal recessive, 611390;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));?Combined oxidative phosphorylation deficiency 25 27604308 False 3 100;0;0 8.110 False ENSG00000247626 ENSG00000247626 HGNC:25133 MAT1A gene MAT1A Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency 27604308 False 3 100;0;0 8.110 False ENSG00000151224 ENSG00000151224 HGNC:6903 MCCC1 gene MCCC1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 1 deficiency, 210200 27604308;24816252 False 3 0;0;0 8.110 False ENSG00000078070 ENSG00000078070 HGNC:6936 MCCC2 gene MCCC2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 2 deficiency, 210210 27604308 False 3 0;0;0 8.110 False ENSG00000131844 ENSG00000131844 HGNC:6937 MCEE gene MCEE Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Methylmalonyl-CoA epimerase deficiency (Organic acidurias);Methylmalonyl-CoA epimerase deficiency;metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections 27604308 False 3 0;0;0 8.110 False ENSG00000124370 ENSG00000124370 HGNC:16732 MCOLN1 gene MCOLN1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mucolipidosis, Type IV;Mucolipidosis IV (Other lysosomal disorders) 27604308 False 3 0;0;0 8.110 False ENSG00000090674 ENSG00000090674 HGNC:13356 MDH2 gene MDH2 Expert Review Green;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 51 617339 27989324 False 3 100;0;0 8.110 False ENSG00000146701 ENSG00000146701 HGNC:6971 MECR gene MECR Expert Review Green;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 27817865 False 3 100;0;0 8.110 False ENSG00000116353 ENSG00000116353 HGNC:19691 MFF gene MFF Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Encephalopathy due to defective mitochondrial and peroxisomal fission 2;Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086;Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 8.110 False ENSG00000168958 ENSG00000168958 HGNC:24858 MFN2 gene MFN2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260;Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM:617087;Hereditary motor and sensory neuropathy VIA, OMIM:601152 27604308 False 3 100;0;0 8.110 False ENSG00000116688 ENSG00000116688 HGNC:16877 MFSD8 gene MFSD8 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7 61095 False 3 0;0;0 8.110 False ENSG00000164073 ENSG00000164073 HGNC:28486 MGAT2 gene MGAT2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal N-acetylglucosaminyltransferase deficiency (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type IIa 212066 19419693 False 3 0;0;0 8.110 False ENSG00000168282 ENSG00000168282 HGNC:7045 MGME1 gene MGME1 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Mitochondrial DNA depletion syndrome 11, 615084;Disorders of mitochondrial DNA maintenance and integrity False 3 100;0;0 8.110 False ENSG00000125871 ENSG00000125871 HGNC:16205 MICU1 gene MICU1 Expert Review Green;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Myopathy with extrapyramidal signs 615673 24336167;29721912 False 3 100;0;0 8.110 False ENSG00000107745 ENSG00000107745 HGNC:1530 MIPEP gene MIPEP Expert list;Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 31, 617228 27799064 False 3 100;0;0 8.110 False ENSG00000027001 ENSG00000027001 HGNC:7104 MLYCD gene MLYCD Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Malonyl-CoA decarboxylase deficiency;malonic aciduria;Malonyl-CoA decarboxylase deficiency (Organic acidurias);3.5.1. Malonyl CoA decarboxylase deficiency Other disorders of fatty acid and ketone body metabolism) 27604308 False 3 0;0;0 8.110 False ENSG00000103150 ENSG00000103150 HGNC:7150 MMAA gene MMAA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, vitamin B12-responsive 251100;Defect in adenosylcobalamin synthesis-cbl A (Disorders of cobalamin absorption, transport and metabolism) 27604308 False 3 0;0;0 8.110 False ENSG00000151611 ENSG00000151611 HGNC:18871 MMAB gene MMAB Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Defect in adenosylcobalamin synthesis-cbl B (Disorders of cobalamin absorption, transport and metabolism);Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type 251110 27604308 False 3 0;0;0 8.110 False ENSG00000139428 ENSG00000139428 HGNC:19331 MMACHC gene MMACHC Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type, 277400 27604308 False 3 0;0;0 8.110 False ENSG00000132763 ENSG00000132763 HGNC:24525 MMADHC gene MMADHC Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Homocystinuria, cblD type, variant 1 False 3 0;0;0 8.110 False ENSG00000168288 ENSG00000168288 HGNC:25221 MOCS1 gene MOCS1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency A 252150 27604308;9731530;12754701 False 3 0;0;0 8.110 False ENSG00000124615 ENSG00000124615 HGNC:7190 MOCS2 gene MOCS2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency B 252160 27604308;10053004;12754701;12732628;11746050;16021469;16737835 False 3 0;0;0 8.110 False ENSG00000164172 ENSG00000164172 HGNC:7193 MOGS gene MOGS Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIb 606056;MOGS-CDG (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type IIb, 606056;(MOGS-CDG (Disorders of protein N-glycosylation)) 20301507;26805780;24716661;4716661 False 3 100;0;0 8.110 False ENSG00000115275 ENSG00000115275 HGNC:24862 MPC1 gene MPC1 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial pyruvate carrier deficiency, OMIM:614741 27176894;22628558;27835892 False 3 100;0;0 8.110 False ENSG00000060762 ENSG00000060762 HGNC:21606 MPDU1 gene MPDU1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type If, OMIM:609180;Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 27604308 False 3 0;0;0 8.110 False ENSG00000129255 ENSG00000129255 HGNC:7207 MPI gene MPI Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ib, OMIM:602579;MPI-CDG, MONDO:0011257;Phosphomannose isomerase deficiency (Disorders of protein N-glycosylation) 12414827;9585601;10980531;33098580;33204592;32905087;32266963;30242110 False 3 0;0;0 8.110 False ENSG00000178802 ENSG00000178802 HGNC:7216 MPV17 gene MPV17 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA Depletion Syndrome;Disorders of mitochondrial DNA maintenance and integrity;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 -3 27604308 False 3 100;0;0 8.110 False ENSG00000115204 ENSG00000115204 HGNC:7224 MRM2 gene MRM2 Expert list;Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial DNA depletion syndrome 17, OMIM:618567 28973171;36002240 False 3 100;0;0 8.110 False ENSG00000122687 ENSG00000122687 HGNC:16352 MRPL3 gene MRPL3 Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 9 614582 27815843;21786366 False 3 50;50;0 8.110 False ENSG00000114686 ENSG00000114686 HGNC:10379 MRPL39 gene MRPL39 Expert Review Green;Literature;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 59, OMIM:620646 37133451 False 3 100;0;0 8.110 False ENSG00000154719 ENSG00000154719 HGNC:14027 MRPL44 gene MRPL44 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 16, 615395;Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 25797485;23315540 False 3 100;0;0 8.110 False ENSG00000135900 ENSG00000135900 HGNC:16650 MRPL49 gene MRPL49 Expert Review Green;Literature;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 60, OMIM:621195;combined oxidative phosphorylation deficiency, MONDO:0000732 40043708 False 3 100;0;0 8.110 False ENSG00000149792 ENSG00000149792 HGNC:1176 MRPS2 gene MRPS2 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 36 617950;No OMIM phenotype 29576219 False 3 0;100;0 8.110 False ENSG00000122140 ENSG00000122140 HGNC:14495 MRPS22 gene MRPS22 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 5, 611719;Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 27604308 False 3 100;0;0 8.110 False ENSG00000175110 ENSG00000175110 HGNC:14508 MRPS34 gene MRPS34 Expert list;Expert Review;Expert Review Green;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 32 617664 28777931 False 3 100;0;0 8.110 False ENSG00000074071 ENSG00000074071 HGNC:16618 MSMO1 gene MSMO1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Sterol-C4-methyl oxidase deficiency (Disorders of sterol biosynthesis);Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834;Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793 27604308 False 3 100;0;0 8.110 False ENSG00000052802 ENSG00000052802 HGNC:10545 MSTO1 gene MSTO1 Expert list;Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial, and ataxia OMIM:617675;mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714 28554942;28544275;37431817 False 3 0;0;0 8.110 False ENSG00000125459 ENSG00000125459 HGNC:29678 MT-ATP6 gene MT-ATP6 Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL False 3 100;0;0 8.110 False ENSG00000198899 ENSG00000198899 HGNC:7414 MT-ATP8 gene MT-ATP8 Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL Mitochondrial cardiomyopathy complex V (ATP synthase) deficiency False 3 100;0;0 8.110 False ENSG00000228253 ENSG00000228253 HGNC:7415 MT-CO1 gene MT-CO1 Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL CYTOCHROME c OXIDASE I DEFICIENCY;SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC;LEBER OPTIC ATROPHY;MYOGLOBINURIA, RECURRENT;CYTOCHROME c OXIDASE DEFICIENCY False 3 100;0;0 8.110 False ENSG00000198804 ENSG00000198804 HGNC:7419 MT-CO2 gene MT-CO2 Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL CYTOCHROME c OXIDASE DEFICIENCY False 3 100;0;0 8.110 False ENSG00000198712 ENSG00000198712 HGNC:7421 MT-CO3 gene MT-CO3 Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL LEBER OPTIC ATROPHY;SEIZURES AND LACTIC ACIDOSIS;MITOCHONDRIAL COMPLEX IV DEFICIENCY none False 3 100;0;0 8.110 False ENSG00000198938 ENSG00000198938 HGNC:7422 MT-CYB gene MT-CYB Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL ENCEPHALOMYOPATHY, MITOCHONDRIAL;CARDIOMYOPATHY, INFANTILE HISTIOCYTOID;MULTISYSTEM DISORDER;EXERCISE INTOLERANCE;PARKINSONISM/MELAS OVERLAP SYNDROME;EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA;LEBER OPTIC ATROPHY False 3 100;0;0 8.110 False ENSG00000198727 ENSG00000198727 HGNC:7427 MTFMT gene MTFMT Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 15 OMIM:614947;combined oxidative phosphorylation defect type 15 MONDO:0013987;Mitochondrial complex I deficiency, nuclear type 27 OMIM:618248;mitochondrial complex 1 deficiency, nuclear type 27 MONDO:0032631 21907147;27564080;23499752;24461907 False 3 100;0;0 8.110 False ENSG00000103707 ENSG00000103707 HGNC:29666 MTHFR gene MTHFR Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Methylenetetrahydrofolate reductase deficiency (Disorders of folate metabolism and transport);Homocystinuria due to MTHFR deficiency 27604308 False 3 0;0;0 8.110 False ENSG00000177000 ENSG00000177000 HGNC:7436 MT-ND1 gene MT-ND1 Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL MELAS SYNDROME;MITOCHONDRIAL COMPLEX I DEFICIENCY;LEBER OPTIC ATROPHY;DYSTONIA, ADULT-ONSET;DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL;SUDDEN INFANT DEATH SYNDROME False 3 100;0;0 8.110 False ENSG00000198888 ENSG00000198888 HGNC:7455 MT-ND2 gene MT-ND2 Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL MITOCHONDRIAL COMPLEX I DEFICIENCY;LEBER OPTIC ATROPHY;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY False 3 100;0;0 8.110 False ENSG00000198763 ENSG00000198763 HGNC:7456 MT-ND3 gene MT-ND3 Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL MITOCHONDRIAL COMPLEX I DEFICIENCY;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY False 3 100;0;0 8.110 False ENSG00000198840 ENSG00000198840 HGNC:7458 MT-ND4 gene MT-ND4 Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL MELAS SYNDROME;LEBER OPTIC ATROPHY AND DYSTONIA;LEBER OPTIC ATROPHY;MITOCHONDRIAL COMPLEX I DEFICIENCY False 3 100;0;0 8.110 False ENSG00000198886 ENSG00000198886 HGNC:7459 MT-ND4L gene MT-ND4L Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL LEBER OPTIC ATROPHY False 3 100;0;0 8.110 False ENSG00000212907 ENSG00000212907 HGNC:7460 MT-ND5 gene MT-ND5 Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL MELAS SYNDROME;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY;LEBER OPTIC ATROPHY;MERRF SYNDROME False 3 100;0;0 8.110 False ENSG00000198786 ENSG00000198786 HGNC:7461 MT-ND6 gene MT-ND6 Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL MELAS SYNDROME;STRIATAL NECROSIS, BILATERAL, WITH DYSTONIA;LEBER OPTIC ATROPHY AND DYSTONIA;LEBER OPTIC ATROPHY;LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY False 3 100;0;0 8.110 False ENSG00000198695 ENSG00000198695 HGNC:7462 MTO1 gene MTO1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 10, 614702;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));infantile hypertrophic cardiomyopathy and lactic acidosis. 27604308 False 3 100;0;0 8.110 False ENSG00000135297 ENSG00000135297 HGNC:19261 MTPAP gene MTPAP Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Spastic ataxia 4, autosomal recessive 613672 27959697;26319014;25008111;20970105;27391121 False 3 100;0;0 8.110 False ENSG00000107951 ENSG00000107951 HGNC:25532 MTR gene MTR Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anemia, cblG complementation type 27604308 False 3 0;0;0 8.110 False ENSG00000116984 ENSG00000116984 HGNC:7468 MT-RNR1 gene MT-RNR1 Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL DEAFNESS, AMINOGLYCOSIDE-INDUCED;DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL;AUDITORY NEUROPATHY;CARDIOMYOPATHY, RESTRICTIVE False 3 100;0;0 8.110 False ENSG00000211459 ENSG00000211459 HGNC:7470 MTRR gene MTRR Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anemia, cbl E type 27604308 False 3 0;0;0 8.110 False ENSG00000124275 ENSG00000124275 HGNC:7473 MT-TA gene MT-TA Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL MITOCHONDRIAL MYOPATHY;MYOTONIC DYSTROPHY-LIKE MYOPATHY False 3 100;0;0 8.110 False ENSG00000210127 ENSG00000210127 HGNC:7475 MT-TC gene MT-TC Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL MELAS SYNDROME;DYSTONIA, MITOCHONDRIAL False 3 100;0;0 8.110 False ENSG00000210140 ENSG00000210140 HGNC:7477 MT-TD gene MT-TD Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL MITOCHONDRIAL MYOPATHY, ISOLATED False 3 100;0;0 8.110 False ENSG00000210154 ENSG00000210154 HGNC:7478 MT-TE gene MT-TE Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL MYOPATHY, MITOCHONDRIAL, WITH DIABETES MELLITUS;DIABETES AND DEAFNESS, MATERNALLY INHERITED;MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT False 3 100;0;0 8.110 False ENSG00000210194 ENSG00000210194 HGNC:7479 MT-TF gene MT-TF Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL False 3 100;0;0 8.110 False ENSG00000210049 ENSG00000210049 HGNC:7481 MT-TG gene MT-TG Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL False 3 100;0;0 8.110 False ENSG00000210164 ENSG00000210164 HGNC:7486 MT-TH gene MT-TH Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL False 3 100;0;0 8.110 False ENSG00000210176 ENSG00000210176 HGNC:7487 MT-TI gene MT-TI Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL familial hypertrophic cardiomyopathy, MONDO:0024573;familial dilated cardiomyopathy, MONDO:0016333 False 3 100;0;0 8.110 False ENSG00000210100 ENSG00000210100 HGNC:7488 MT-TK gene MT-TK Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL False 3 100;0;0 8.110 False ENSG00000210156 ENSG00000210156 HGNC:7489 MT-TL1 gene MT-TL1 Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL False 3 100;0;0 8.110 False ENSG00000209082 ENSG00000209082 HGNC:7490 MT-TL2 gene MT-TL2 Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL False 3 100;0;0 8.110 False ENSG00000210191 ENSG00000210191 HGNC:7491 MT-TM gene MT-TM Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL False 3 100;0;0 8.110 False ENSG00000210112 ENSG00000210112 HGNC:7492 MT-TN gene MT-TN Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL False 3 100;0;0 8.110 False ENSG00000210135 ENSG00000210135 HGNC:7493 MTTP gene MTTP Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinemia, 200100;(ACANTHOCYTOSIS, BASSEN-KORNZWEIG SYNDROME, MICROSOMAL TRIGLYCERIDE TRANSFER PROTEIN DEFICIENCY, MTP DEFICIENCY);Familial abetalipoproteinaemia (Inherited hypolipidaemias) 27604308 False 3 100;0;0 8.110 False ENSG00000138823 ENSG00000138823 HGNC:7467 MT-TP gene MT-TP Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL False 3 100;0;0 8.110 False ENSG00000210196 ENSG00000210196 HGNC:7494 MT-TQ gene MT-TQ Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL False 3 100;0;0 8.110 False ENSG00000210107 ENSG00000210107 HGNC:7495 MT-TR gene MT-TR Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL False 3 100;0;0 8.110 False ENSG00000210174 ENSG00000210174 HGNC:7496 MT-TS1 gene MT-TS1 Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL False 3 100;0;0 8.110 False ENSG00000210151 ENSG00000210151 HGNC:7497 MT-TS2 gene MT-TS2 Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL False 3 100;0;0 8.110 False ENSG00000210184 ENSG00000210184 HGNC:7498 MT-TT gene MT-TT Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic MITOCHONDRIAL mitochondrial disease, MONDO:0044970;Leber optic atrophy, OMIM:535000;myoclonic epilepsy associated with ragged-red fibers, OMIM:545000;fatal infantile respiratory enzyme deficiency;Inherited Diabetes Mellitus;adult onset mild myopathy 32083134;8769114;9367299;1645537;8511015;22638997;29760464;30236074;28187756;35808913 False 3 75;25;0 8.110 False ENSG00000210195 ENSG00000210195 HGNC:7499 MT-TV gene MT-TV Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL False 3 100;0;0 8.110 False ENSG00000210077 ENSG00000210077 HGNC:7500 MT-TW gene MT-TW Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL False 3 100;0;0 8.110 False ENSG00000210117 ENSG00000210117 HGNC:7501 MT-TY gene MT-TY Expert Review Green Likely inborn error of metabolism Metabolic MITOCHONDRIAL False 3 100;0;0 8.110 False ENSG00000210144 ENSG00000210144 HGNC:7502 MUT gene MUT Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections.;Methylmalonic aciduria, mut(0) type 251000;Methylmalonyl-CoA mutase deficiency (Organic acidurias) 27604308 False 3 0;0;0 8.110 False ENSG00000146085 ENSG00000146085 HGNC:7526 MVK gene MVK Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyper-IgD syndrome, OMIM:260920;Mevalonic aciduria, OMIM:610377;Porokeratosis 3, multiple types, OMIM:175900 27604308;10417275;16835861;10369261;16435210;26202976 False 3 0;0;0 8.110 False ENSG00000110921 ENSG00000110921 HGNC:7530 NADK2 gene NADK2 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal 2,4-dienoyl-CoA reductase deficiency, OMIM:616034 24847004;29388319;27940755 False 3 100;0;0 8.110 False ENSG00000152620 ENSG00000152620 HGNC:26404 NAGA gene NAGA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Kanzaki disease False 3 0;0;0 8.110 False ENSG00000198951 ENSG00000198951 HGNC:7631 NAGLU gene NAGLU Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Type III;Mucopolysaccharidosis, Type III;Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920;MPS IIIB, Sanfilippo B disease (Mucopolysaccharidoses);MUCOPOLYSACCHARIDOSIS TYPE 3B;Mucopolysaccharidosis Type IIIB 27604308 False 3 0;0;0 8.110 False ENSG00000108784 ENSG00000108784 HGNC:7632 NAGS gene NAGS Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal N-Acetylglutamate synthetase deficiency (Urea cycle disorders and inherited hyperammonaemias);N-acetylglutamate synthase deficiency 27604308 False 3 0;0;0 8.110 False ENSG00000161653 ENSG00000161653 HGNC:17996 NARS2 gene NARS2 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 24 25629079;25807530;25385316 False 3 100;0;0 8.110 False ENSG00000137513 ENSG00000137513 HGNC:26274 NAXD gene NAXD Expert list;Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2, OMIM:618321 30576410;33224489;31755961 False 3 100;0;0 8.110 False ENSG00000213995 ENSG00000213995 HGNC:25576 NAXE gene NAXE Expert Review Green;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, OMIM:617186 27616477;27290639;27122014 False 3 100;0;0 8.110 False ENSG00000163382 ENSG00000163382 HGNC:18453 NDUFA1 gene NDUFA1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex I deficiency 27604308;28247337;17262856;19185523;21596602 False 3 100;0;0 8.110 False ENSG00000125356 ENSG00000125356 HGNC:7683 NDUFA10 gene NDUFA10 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Isolated complex I deficiency;Leigh syndrome, 256000;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.110 False ENSG00000130414 ENSG00000130414 HGNC:7684 NDUFA11 gene NDUFA11 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.110 False ENSG00000174886 ENSG00000174886 HGNC:20371 NDUFA12 gene NDUFA12 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 21617257;33715266;35141356 False 3 67;0;33 8.110 False ENSG00000184752 ENSG00000184752 HGNC:23987 NDUFA13 gene NDUFA13 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 28, OMIM:618249 25901006;32722639 False 3 75;0;25 8.110 False ENSG00000186010 ENSG00000186010 HGNC:17194 NDUFA2 gene NDUFA2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex I deficiency, 256000;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.110 False ENSG00000131495 ENSG00000131495 HGNC:7685 NDUFA4 gene NDUFA4 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency, nuclear type 21, OMIM:619065;mitochondrial complex IV deficiency, nuclear type 21, MONDO:0033656 23746447;29636225 False 3 50;50;0 8.110 False ENSG00000189043 ENSG00000189043 HGNC:7687 NDUFA6 gene NDUFA6 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253 30245030 False 3 0;100;0 8.110 False ENSG00000184983 ENSG00000184983 HGNC:7690 NDUFA8 gene NDUFA8 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 37, OMIM:619272 15576045;33153867;32385911 False 3 67;33;0 8.110 False ENSG00000119421 ENSG00000119421 HGNC:7692 NDUFA9 gene NDUFA9 Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Leigh syndrome due to mitochondrial complex I deficiency, 256000 -3;Isolated complex I deficiency;Mitochondrial complex I deficiency, nuclear type 26, 618247;Leigh syndrome due to mitochondrial complex I deficiency, 256000 28671271;22114105 False 3 33;33;33 8.110 False ENSG00000139180 ENSG00000139180 HGNC:7693 NDUFAF1 gene NDUFAF1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.110 False ENSG00000137806 ENSG00000137806 HGNC:18828 NDUFAF2 gene NDUFAF2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Isolated complex I deficiency;Leigh syndrome, 256000;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.110 False ENSG00000164182 ENSG00000164182 HGNC:28086 NDUFAF3 gene NDUFAF3 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.110 False ENSG00000178057 ENSG00000178057 HGNC:29918 NDUFAF4 gene NDUFAF4 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.110 False ENSG00000123545 ENSG00000123545 HGNC:21034 NDUFAF5 gene NDUFAF5 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex 1 deficiency, 252010;Mitochondrial Diseases;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Isolated complex I deficiency 27604308 False 3 100;0;0 8.110 False ENSG00000101247 ENSG00000101247 HGNC:15899 NDUFAF6 gene NDUFAF6 Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex I deficiency, 256000;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Isolated complex I deficiency 27604308 False 3 100;0;0 8.110 False ENSG00000156170 ENSG00000156170 HGNC:28625 NDUFAF8 gene NDUFAF8 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776 27499296 False 3 0;0;0 8.110 False ENSG00000224877 ENSG00000224877 HGNC:33551 NDUFB10 gene NDUFB10 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003 28040730;32025618;33169436 False 3 50;50;0 8.110 False ENSG00000140990 ENSG00000140990 HGNC:7696 NDUFB11 gene NDUFB11 Expert Review Green Likely inborn error of metabolism Metabolic 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;microphthalmia with linear skin defects syndrome;histiocytoid cardiomyopathy;Isolated complex I deficiency False 3 100;0;0 8.110 False ENSG00000147123 ENSG00000147123 HGNC:20372 NDUFB3 gene NDUFB3 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246 27604308 False 3 100;0;0 8.110 False ENSG00000119013 ENSG00000119013 HGNC:7698 NDUFB7 gene NDUFB7 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135 33502047;27626371;40025060 False 3 50;50;0 8.110 False ENSG00000099795 ENSG00000099795 HGNC:7702 NDUFB8 gene NDUFB8 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 32, 618252;No OMIM phenotype;Isolated complex I deficiency 27290639;29429571 False 3 0;100;0 8.110 False ENSG00000166136 ENSG00000166136 HGNC:7703 NDUFC2 gene NDUFC2 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 36 OMIM:619170 32969598 False 3 50;50;0 8.110 False ENSG00000151366 ENSG00000151366 HGNC:7706 NDUFS1 gene NDUFS1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex I deficiency 27604308 False 3 100;0;0 8.110 False ENSG00000023228 ENSG00000023228 HGNC:7707 NDUFS2 gene NDUFS2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.110 False ENSG00000158864 ENSG00000158864 HGNC:7708 NDUFS3 gene NDUFS3 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Leigh syndrome due to mitochondrial complex I deficiency, 256000Mitochondrial complex I deficiency, 252010;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.110 False ENSG00000213619 ENSG00000213619 HGNC:7710 NDUFS4 gene NDUFS4 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Leigh syndrome, 256000;Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.110 False ENSG00000164258 ENSG00000164258 HGNC:7711 NDUFS6 gene NDUFS6 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Isolated complex I deficiency;Complex I, mitochondrial respiratory chain, deficiency of, 252010;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.110 False ENSG00000145494 ENSG00000145494 HGNC:7713 NDUFS7 gene NDUFS7 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Isolated complex I deficiency;Leigh syndrome, 256000;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.110 False ENSG00000115286 ENSG00000115286 HGNC:7714 NDUFS8 gene NDUFS8 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Leigh syndrome due to mitochondrial complex I deficiency, 256000;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.110 False ENSG00000110717 ENSG00000110717 HGNC:7715 NDUFV1 gene NDUFV1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.110 False ENSG00000167792 ENSG00000167792 HGNC:7716 NDUFV2 gene NDUFV2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits) 27604308 False 3 100;0;0 8.110 False ENSG00000178127 ENSG00000178127 HGNC:7717 NEU1 gene NEU1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Sialidosis, type I, OMIM:256550;Sialidosis, type II, OMIM:256550;Mucolipidosis, Type I 27604308 False 3 0;0;0 8.110 False ENSG00000204386 ENSG00000204386 HGNC:7758 NFS1 gene NFS1 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 52, OMIM:619386 24498631;33457206 False 3 60;0;40 8.110 False ENSG00000244005 ENSG00000244005 HGNC:15910 NFU1 gene NFU1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 1, OMIM:605711;Defective Fe-S/lipoic acid biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 8.110 False ENSG00000169599 ENSG00000169599 HGNC:16287 NGLY1 gene NGLY1 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal OrphaNet: ORPHA404454;Congenital disorder of deglycosylation 615273;Alacrimia-choreoathetosis-liver dysfunction syndrome;OMIM:615273 25220016;26350515;25900930;24651605;25605922;22581936;25707956 False 3 0;0;0 8.110 False ENSG00000151092 ENSG00000151092 HGNC:17646 NHLRC1 gene NHLRC1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora) 27604308 False 3 0;0;0 8.110 False ENSG00000187566 ENSG00000187566 HGNC:21576 NNT gene NNT Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, 614736 27129361;28546232 False 3 100;0;0 8.110 False ENSG00000112992 ENSG00000112992 HGNC:7863 NPC1 gene NPC1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type C1 27604308 False 3 0;0;0 8.110 False ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease type C2, 607625 27604308 False 3 0;0;0 8.110 False ENSG00000119655 ENSG00000119655 HGNC:14537 NSDHL gene NSDHL Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Congenital hemidysplasia with ichtyosiform erythroderma and limb defects (Disorders of sterol biosynthesis);CHILD syndrome 308050 XLD;CK syndrome 300831 XLR 27604308 False 3 0;0;0 8.110 False ENSG00000147383 ENSG00000147383 HGNC:13398 NSUN3 gene NSUN3 Expert list;Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 48, OMIM:619012 27356879;32488845 False 3 100;0;0 8.110 False ENSG00000178694 ENSG00000178694 HGNC:26208 NT5C3A gene NT5C3A Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Anemia, hemolytic, due to UMPH1 deficiency, 266120;Uridine-5 -monophosphate hydrolase superactivity (Disorders of pyrimidine metabolism) 27604308 False 3 100;0;0 8.110 False ENSG00000122643 ENSG00000122643 HGNC:17820 NT5E gene NT5E Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Calcification of joints and arteries, OMIM:211800;hereditary arterial and articular multiple calcification syndrome, MONDO:0008895 21288095;26010187;28825389;32522903;34999808;26178434;27045881 False 3 100;0;0 8.110 False ENSG00000135318 ENSG00000135318 HGNC:8021 NUBPL gene NUBPL Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, 252010;Mitochondrial Diseases;Isolated complex I deficiency;Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Respiratory Chain Complex I Deficiency 27604308 False 3 100;0;0 8.110 False ENSG00000151413 ENSG00000151413 HGNC:20278 NUS1 gene NUS1 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 55, with seizures, OMIM:617831;?Congenital disorder of glycosylation, type 1aa, OMIM:617082 25066056;31656175;32334381;32485575;33731878 False 3 75;25;0 8.110 False ENSG00000153989 ENSG00000153989 HGNC:21042 OAT gene OAT Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Ornithine aminotransferase deficiency (Disorders of ornithine or proline metabolism);Gyrate atrophy of choroid and retina with or without ornithinemia 27604308 False 3 0;0;0 8.110 False ENSG00000065154 ENSG00000065154 HGNC:8091 OCRL gene OCRL Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Dent disease 2, OMIM:300555;Lowe syndrome, OMIM:309000 27604308;8504307;9632163;9632163;15627218;27625797;33517444 False 3 0;0;0 8.110 False ENSG00000122126 ENSG00000122126 HGNC:8108 OGDH gene OGDH Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Alpha-ketoglutarate dehydrogenase deficiency, OMIM:203740;oxoglutaricaciduria, MONDO:0008759 27604308;32383294;36520152 False 3 60;0;40 8.110 False ENSG00000105953 ENSG00000105953 HGNC:8124 OPA1 gene OPA1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Optic atrophy 1, OMIM:165500;Optic atrophy plus syndrome, OMIM:125250;Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896;Behr syndrome, OMIM:210000 27604308;28494813;27150940;24970096;11017079;11017080;17722006;25012220 False 3 100;0;0 8.110 False ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Methylglutaconic aciduria type III, Costeff syndrome (Organic acidurias);3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300 27604308 False 3 100;0;0 8.110 False ENSG00000125741 ENSG00000125741 HGNC:8142 OTC gene OTC Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic 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;Ornithine transcarbamylase deficiency (Urea cycle disorders and inherited hyperammonaemias) 27604308 False 3 0;0;0 8.110 False ENSG00000036473 ENSG00000036473 HGNC:8512 OXCT1 gene OXCT1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Succinyl CoA:3-oxoacid CoA transferase deficiency;severe ketosis on fasting often ketotic in fed state no hepatomegaly;Succinyl-CoA:3-Oxoacid-CoA transferase (SCOT) deficiency (Disorders of ketone body metabolism);Succinyl CoA:3-oxoacid CoA transferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 0;0;100 8.110 False ENSG00000083720 ENSG00000083720 HGNC:8527 PAH gene PAH Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Phenylketonuria 27604308;24816252 False 3 0;0;0 8.110 False ENSG00000171759 ENSG00000171759 HGNC:8582 PANK2 gene PANK2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal HARP syndrome 607236;Neurodegeneration with brain iron accumulation 234200 27604308;11479594;12510040;12058097;14638969;16240131 False 3 100;0;0 8.110 False ENSG00000125779 ENSG00000125779 HGNC:15894 PARS2 gene PARS2 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Epileptic encephalopathy, early infantile, 75, 618437Alpers syndrome.;Epileptic encephalopathy, early infantile, 75, 618437;Alpers syndrome 28077841;25629079;29410512;29915213 False 3 100;0;0 8.110 False ENSG00000162396 ENSG00000162396 HGNC:30563 PC gene PC Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Pyruvate carboxylase deficiency, OMIM:266150 27604308 False 3 100;0;0 8.110 False ENSG00000173599 ENSG00000173599 HGNC:8636 PCBD1 gene PCBD1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, D 27604308 False 3 0;0;0 8.110 False ENSG00000166228 ENSG00000166228 HGNC:8646 PCCA gene PCCA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Propionicacidemia;Propionic acidemia;Propionicacidemia 606054;metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections;Propionic aciduria (Organic acidurias) 27604308 False 3 0;0;0 8.110 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections);Propionic acidemia;Propionicacidemia 606054;Propionicacidemia;Propionic aciduria (Organic acidurias) 27604308 False 3 0;0;0 8.110 False ENSG00000114054 ENSG00000114054 HGNC:8654 PCK1 gene PCK1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Phosphoenolpyruvate carboxykinase deficiency, cytosolic 261680 27604308;24863970;26971250;28216384 False 3 0;0;0 8.110 False ENSG00000124253 ENSG00000124253 HGNC:8724 PCSK9 gene PCSK9 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypercholesterolemia, familial, 3 603776;{Low density lipoprotein cholesterol level QTL 1} 603776 27604308;12730697;14727179;15772090;15654334;16909389;26541928 False 3 100;0;0 8.110 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000169174 ENSG00000169174 HGNC:20001 PDE12 gene PDE12 Expert list;Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal mitochondrial disease, MONDO:0044970 28745585;29903433;39567835 False 3 67;0;33 8.110 False ENSG00000174840 ENSG00000174840 HGNC:25386 PDHA1 gene PDHA1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Pyruvate dehydrogenase E1? subunit deficiency (Disorders of pyruvate metabolism);Leigh syndrome, X-linked, 308930;Pyruvate dehydrogenase E1-alpha deficiency, 312170 27604308 False 3 100;0;0 8.110 False ENSG00000131828 ENSG00000131828 HGNC:8806 PDHB gene PDHB Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111 27604308 False 3 100;0;0 8.110 False ENSG00000168291 ENSG00000168291 HGNC:8808 PDHX gene PDHX Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Lacticacidemia due to PDX1 deficiency, OMIM:245349 27604308 False 3 100;0;0 8.110 False ENSG00000110435 ENSG00000110435 HGNC:21350 PDK3 gene PDK3 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic 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 300905 23297365;26801680;27388934;28902413;32504000;34387338 False 3 50;25;25 8.110 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000067992 ENSG00000067992 HGNC:8811 PDP1 gene PDP1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase phosphatase deficiency, 608782;Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) 27604308 False 3 100;0;0 8.110 False ENSG00000164951 ENSG00000164951 HGNC:9279 PDSS1 gene PDSS1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 2, 614651;Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of ubiquinone metabolism and biosynthesis 27604308 False 3 100;0;0 8.110 False ENSG00000148459 ENSG00000148459 HGNC:17759 PDSS2 gene PDSS2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 3, 614652;Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of ubiquinone metabolism and biosynthesis 27604308 False 3 100;0;0 8.110 False ENSG00000164494 ENSG00000164494 HGNC:23041 PEPD gene PEPD Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Prolidase deficiency 170100 27604308;2365824;2365824;8198124;15309682;16470701 False 3 0;0;0 8.110 False ENSG00000124299 ENSG00000124299 HGNC:8840 PET100 gene PET100 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Leigh syndrome;Mitochondrial complex IV deficiency, 220110;Isolated complex IV deficiency 24462369 False 3 100;0;0 8.110 False ENSG00000229833 ENSG00000229833 HGNC:40038 PEX1 gene PEX1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 1B (NALD/IRD) 601539;Peroxisome biogenesis disorder 1A (Zellweger) 214100 27604308 False 3 0;0;0 8.110 False ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 6A (Zellweger) 614870;Peroxisome biogenesis disorder 6B 614871 27604308 False 3 0;0;0 8.110 False ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 14B False 3 0;0;0 8.110 False ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 3A (Zellweger), 614859;Peroxisome biogenesis disorder 3B 27604308 False 3 0;0;0 8.110 False ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 11A (Zellweger) 27604308 False 3 0;0;0 8.110 False ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 13A (Zellweger), OMIM:614887;peroxisome biogenesis disorder 13A (Zellweger), MONDO:0013952 27604308;37493040 False 3 100;0;0 8.110 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum;Peroxisome biogenesis disorder 8A, (Zellweger), 614876;Peroxisomal biogenesis disorders;Zellweger Syndrome 27604308 False 3 0;0;0 8.110 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 12A (Zellweger) 27604308 False 3 0;0;0 8.110 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 5A (Zellweger), 614866;Peroxisome biogenesis disorder 5B, 614867 27604308 False 3 0;0;0 8.110 False ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 7A (Zellweger) 61487;Peroxisome biogenesis disorder 7B 614873 27604308 False 3 0;0;0 8.110 False ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 10A (Zellweger) 614882 27604308 False 3 0;0;0 8.110 False ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Disorders of peroxisome biogenesis;Peroxisome biogenesis disorder 2A (Zellweger) 27604308 False 3 0;0;0 8.110 True ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger) OMIM:614862;peroxisome biogenesis disorder 4A (Zellweger) MONDO:0013930;Peroxisome biogenesis disorder 4B OMIM:614863;peroxisome biogenesis disorder 4B MONDO:0013931 27604308;29220678;20301621 False 3 100;0;0 8.110 False Other ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 9B 614879;Rhizomelic chondrodysplasia punctata, type 1;Rhizomelic chondrodysplasia punctata type 1 (Peroxisomal disorders) 27604308 False 3 0;0;0 8.110 False ENSG00000112357 ENSG00000112357 HGNC:8860 PFKM gene PFKM Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII 27604308 False 3 100;0;0 8.110 False ENSG00000152556 ENSG00000152556 HGNC:8877 PGAM2 gene PGAM2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease X 261670 27604308;28779239 False 3 100;0;0 8.110 False ENSG00000164708 ENSG00000164708 HGNC:8889 PGAP2 gene PGAP2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 3 614207;PGAP2-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) 27604308 False 3 0;0;0 8.110 False ENSG00000148985 ENSG00000148985 HGNC:17893 PGAP3 gene PGAP3 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia with mental retardation syndrome 4 24439110 False 3 0;0;0 8.110 False ENSG00000161395 ENSG00000161395 HGNC:23719 PGK1 gene PGK1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Phosphoglycerate kinase 1 deficiency 27604308 False 3 100;0;0 8.110 False ENSG00000102144 ENSG00000102144 HGNC:8896 PGM1 gene PGM1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen Storage Disease;Congenital disorder of deglycosylation 615273;Glycogen storage disease type XIV (Glycogen storage disorders);Congenital disorder of glycosylation, type It, 614921;Glycogen Storage Disorders- Muscle;Glycogen Storage Disease Type XIV;Glycogen storage disease XIV, 612934 27206562 False 3 100;0;0 8.110 False ENSG00000079739 ENSG00000079739 HGNC:8905 PGM3 gene PGM3 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 23 24698316 False 3 0;0;0 8.110 False ENSG00000013375 ENSG00000013375 HGNC:8907 PHGDH gene PHGDH Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Neu-Laxova syndrome 1 256520;Phosphoglycerate dehydrogenase deficiency 601815 27604308;24816252;11055895;11034457;19235232;24836451;25152457 False 3 0;0;0 8.110 False ENSG00000092621 ENSG00000092621 HGNC:8923 PHKA1 gene PHKA1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Muscle glycogenosis, 300559 27604308 False 3 100;0;0 8.110 False ENSG00000067177 ENSG00000067177 HGNC:8925 PHKA2 gene PHKA2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Glycogen Storage Disease;Glycogen Storage Disorders- Liver;Glycogen storage disease, type IXa2, 306000;Glycogen storage disease, type IXa1, 306000;hepatomegaly and mild hypoglycaemia;Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency (Glycogen storage disorders) 27604308 False 3 0;0;0 8.110 False ENSG00000044446 ENSG00000044446 HGNC:8926 PHKB gene PHKB Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal hepatomegaly and variable myopathy;Glycogen Storage Disorders- Liver;Glycogen Storage Disorders- Muscle;Glycogen Storage Disease;Glycogen storage disease type IX Hepatic and muscle phosphorylase kinase deficiency (Glycogen storage disorders) 27604308 False 3 100;0;0 8.110 False ENSG00000102893 ENSG00000102893 HGNC:8927 PHKG2 gene PHKG2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal hepatomegaly and variable myopathy;Glycogen Storage Disorders- Liver;Glycogen Storage Disease;Glycogen storage disease IXc, 613027;Glycogen storage disease type IX Hepatic phosphorylase kinase deficiency with cirrhosis (Glycogen storage disorders);Cirrhosis due to liver phosphorylase kinase deficiency 27604308 False 3 0;0;0 8.110 False ENSG00000156873 ENSG00000156873 HGNC:8931 PHYH gene PHYH Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Refsum disease, 266500;Refsum disease (Disorders of peroxisomal alpha-, beta and omega-oxidation) 27604308 False 3 0;0;0 8.110 False ENSG00000107537 ENSG00000107537 HGNC:8940 PIGA gene PIGA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-hypotonia-seizures syndrome 2 300868;PIGA-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) 27604308 False 3 0;0;0 8.110 False ENSG00000165195 ENSG00000165195 HGNC:8957 PIGL gene PIGL Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal PIGL-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation);CHIME syndrome 280000 22444671 False 3 0;0;0 8.110 False ENSG00000108474 ENSG00000108474 HGNC:8966 PIGM gene PIGM Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol deficiency, OMIM:610293 27604308;16767100;25293775;17442906;31445883 False 3 67;0;33 8.110 False ENSG00000143315 ENSG00000143315 HGNC:18858 PIGN gene PIGN Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal PIGN-CDG (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation);Multiple congenital anomalies-hypotonia-seizures syndrome 1 26419326;21493957 False 3 0;0;0 8.110 False ENSG00000197563 ENSG00000197563 HGNC:8967 PIGO gene PIGO Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation);(Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation);Hyperphosphatasia with mental retardation syndrome 2 614749 27604308 False 3 0;0;0 8.110 False ENSG00000165282 ENSG00000165282 HGNC:23215 PIGS gene PIGS Expert list;Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 18 618143 30269814 False 3 100;0;0 8.110 False ENSG00000087111 ENSG00000087111 HGNC:14937 PIGT gene PIGT Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple congenital anomalies-hypotonia-seizures syndrome 3 23636107;28327575 False 3 100;0;0 8.110 False ENSG00000124155 ENSG00000124155 HGNC:14938 PIGV gene PIGV Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hyperphosphatasia (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation);Hyperphosphatasia with mental retardation syndrome 1 239300;(Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation) 20802478;24129430 False 3 0;0;0 8.110 False ENSG00000060642 ENSG00000060642 HGNC:26031 PIGW gene PIGW Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Hyperphosphatasia with mental retardation syndrome 5 24367057 False 3 100;0;0 8.110 False ENSG00000184886 ENSG00000277161 HGNC:23213 PINK1 gene PINK1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Parkinson disease 6, early onset 605909 27604308;15087508;16207731;18003639;18524835 False 3 0;0;0 8.110 False ENSG00000158828 ENSG00000158828 HGNC:14581 PITRM1 gene PITRM1 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 30, OMIM:619405 26697887;29383861;29764912 False 3 100;0;0 8.110 False ENSG00000107959 ENSG00000107959 HGNC:17663 PLA2G6 gene PLA2G6 Expert list;Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Infantile neuroaxonal dystrophy 1 27604308;18570303;16783378;18799783 False 3 0;0;100 8.110 False ENSG00000184381 ENSG00000184381 HGNC:9039 PMM2 gene PMM2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Phosphomannomutase 2 deficiency (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Ia 212065 11875054;11058895;11409861 False 3 0;0;0 8.110 False ENSG00000140650 ENSG00000140650 HGNC:9115 PMPCA gene PMPCA Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal slowly progressive cerebellar ataxia;non-progressive cerebellar ataxia 26657514;25808372 False 3 100;0;0 8.110 False ENSG00000165688 ENSG00000165688 HGNC:18667 PMPCB gene PMPCB Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954;multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 29576218 False 3 0;0;0 8.110 False ENSG00000105819 ENSG00000105819 HGNC:9119 PNP gene PNP Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to purine nucleoside phosphorylase deficiency 613179 27604308;3029074;1384322;9067751;8931706;9737781;11453975 False 3 0;0;0 8.110 False ENSG00000198805 ENSG00000198805 HGNC:7892 PNPLA2 gene PNPLA2 Expert Review;Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Neutral lipid storage disease with myopathy MIM#610717 18952067;21544567;25287355;25956450;32269696 False 3 100;0;0 8.110 False ENSG00000177666 ENSG00000177666 HGNC:30802 PNPLA8 gene PNPLA8 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial myopathy with lactic acidosis, 251950 25473036;25512002;29681094 False 3 100;0;0 8.110 False ENSG00000135241 ENSG00000135241 HGNC:28900 PNPO gene PNPO Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Pyridoxamine 5 -oxidase deficiency (Disorders of pyridoxine metabolism) 27604308 False 3 0;0;0 8.110 False ENSG00000108439 ENSG00000108439 HGNC:30260 PNPT1 gene PNPT1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 13, OMIM:614932;Deafness, autosomal recessive 70, OMIM:614934;Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 27604308 False 3 100;0;0 8.110 False ENSG00000138035 ENSG00000138035 HGNC:23166 POLG gene POLG Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive external ophthalmoplegia, autosomal dominant, 157640;Progressive external ophthalmoplegia, autosomal recessive, 258450;Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700;Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662;Mitochondrial DNA depletion syndrome 4A (Alpers type);Mitochondrial DNA Depletion Syndrome;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 27604308 False 3 100;0;0 8.110 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLG2 gene POLG2 Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome syndrome 16 (hepatic type), OMIM:618528;Mitochondrial DNA depletion syndrome 16B (neuroophthalmic type), OMIM:619425;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4, OMIM:610131 16685652;21555342;27592148;30157269;31778857 False 3 100;0;0 8.110 False ENSG00000256525 ENSG00000256525 HGNC:9180 POLRMT gene POLRMT Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 55, OMIM:619743;combined oxidative phosphorylation deficiency 55, MONDO:0859228 24386581;33602924;40583167 False 3 67;33;0 8.110 False ENSG00000099821 ENSG00000099821 HGNC:9200 POMGNT1 gene POMGNT1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 253280;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 3 613157;Protein-O-mannose beta-1,2-N-acetyglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);Retinitis pigmentosa 76 617123 27421908 False 3 0;0;0 8.110 False ENSG00000085998 ENSG00000085998 HGNC:19139 POMGNT2 gene POMGNT2 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 27066570 False 3 0;0;0 8.110 False ENSG00000144647 ENSG00000144647 HGNC:25902 POMK gene POMK Expert Review;Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 12 OMIM:616094;limb-girdle muscular dystrophy due to POMK deficiencyMONDO:0014489;Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 OMIM:615249;muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12 MONDO:0014101 23519211;24556084;24925318;29910097 False 3 100;0;0 8.110 False ENSG00000185900 ENSG00000185900 HGNC:26267 POMT1 gene POMT1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308;Protein-O-mannosyltransferase 1 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670 27604308 False 3 0;0;0 8.110 False ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 613158;Protein-O-mannosyltransferase 2 deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156 27421908 False 3 0;0;0 8.110 False ENSG00000009830 ENSG00000009830 HGNC:19743 POR gene POR Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic 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 0;0;0 8.110 False ENSG00000127948 ENSG00000127948 HGNC:9208 PPA2 gene PPA2 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Sudden cardiac failure, infantile, 617222;Sudden cardiac failure, alcohol-induced, 617223 27523598 False 3 100;0;0 8.110 False ENSG00000138777 ENSG00000138777 HGNC:28883 PPOX gene PPOX Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Variegate porphyria, OMIM:176200;Variegate porphyria, childhood-onset, OMIM:620483;variegate porphyria, MONDO:0008297;variegate porphyria, childhood-onset, MONDO:0957577 9540991;9811936;10870850;12859407;25778941;30476629;32247286;33159949;35584894;37879139;38940544;40114189 False 3 67;0;33 8.110 False ENSG00000143224 ENSG00000143224 HGNC:9280 PPT1 gene PPT1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1 27604308 False 3 0;0;0 8.110 False ENSG00000131238 ENSG00000131238 HGNC:9325 PRKAG2 gene PRKAG2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic 6, 600858;Glycogen storage disease of heart, lethal congenital, 261740;Wolff-Parkinson-White syndrome, 194200 194200 False 3 100;0;0 8.110 False ENSG00000106617 ENSG00000106617 HGNC:9386 PRODH gene PRODH Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hyperprolinemia, type I, OMIM:239500;hyperprolinemia type 1, MONDO:0009400 27604308;24816252 False 3 100;0;0 8.110 False ENSG00000100033 ENSG00000100033 HGNC:9453 PRPS1 gene PRPS1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic 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 27604308 False 3 0;0;0 8.110 False ENSG00000147224 ENSG00000147224 HGNC:9462 PSAP gene PSAP Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Atypical Gaucher disease;Metachromatic leukodystrophy due to SAP-b deficiency, 249900;Combined SAP deficiency;Combined SAP deficiency, 611721;Prosaposin deficiency (Sphingolipidoses);Atypical Krabbe disease;Gaucher disease, atypical, 610539;Krabbe disease, atypical, 611722 27604308 False 3 0;0;0 8.110 False ENSG00000197746 ENSG00000197746 HGNC:9498 PSAT1 gene PSAT1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Phosphoserine aminotransferase deficiency 610992;Neu-Laxova syndrome 2 616038 27604308;25152457;26960553;17436247 False 3 0;0;0 8.110 False ENSG00000135069 ENSG00000135069 HGNC:19129 PTCD3 gene PTCD3 Expert list;Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 51, OMIM:619057;combined oxidative phosphorylation deficiency 51, MONDO:0033631 30607703;30706245;36450274 False 3 100;0;0 8.110 False ENSG00000132300 ENSG00000132300 HGNC:24717 PTS gene PTS Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;6-Pyruvoyl-tetrahydropterin synthase deficiency (Disorders of pterin metabolism);Hyperphenylalaninemia, BH4-deficient, A 261640 27604308 False 3 0;0;0 8.110 False ENSG00000150787 ENSG00000150787 HGNC:9689 PUS1 gene PUS1 Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Mitochondrial myopathy and sideroblastic anemia 1, 600462 27604308 False 3 100;0;0 8.110 False ENSG00000177192 ENSG00000177192 HGNC:15508 PYCR1 gene PYCR1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIB, 612940;Cutis laxa, autosomal recessive, type IIb/IIIb (Disorders of ornithine or proline metabolism);Cutis laxa, autosomal recessive, type IIIB, 614438 27604308 False 3 50;0;50 8.110 False ENSG00000183010 ENSG00000183010 HGNC:9721 PYGL gene PYGL Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen Storage Disease;Glycogen Storage Disorders- Liver;Glycogen storage disease VI, 232700;hepatomegaly and mild hypoglycaemia;Glycogen Storage Disease Type VI;Glycogen storage disease type VI, Hers (Glycogen storage disorders) 27604308 False 3 0;0;0 8.110 False ENSG00000100504 ENSG00000100504 HGNC:9725 PYGM gene PYGM Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease type V, McArdle (Glycogen storage disorders);McArdle disease 232600 27604308 False 3 100;0;0 8.110 False ENSG00000068976 ENSG00000068976 HGNC:9726 QARS gene QARS Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760 28620870;25471517;25432320;25041233;24656866;32042906 False 3 67;33;0 8.110 False ENSG00000172053 ENSG00000172053 HGNC:9751 QDPR gene QDPR Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, C 27604308 False 3 0;0;0 8.110 False ENSG00000151552 ENSG00000151552 HGNC:9752 QRSL1 gene QRSL1 Expert Review Green;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 40, OMIM:618835 26741492;29440775;30283131 False 3 100;0;0 8.110 False ENSG00000130348 ENSG00000130348 HGNC:21020 RARS2 gene RARS2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 6, 611523;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 8.110 False ENSG00000146282 ENSG00000146282 HGNC:21406 RBCK1 gene RBCK1 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895 23889995;23104095 False 3 100;0;0 8.110 False ENSG00000125826 ENSG00000125826 HGNC:15864 RBP4 gene RBP4 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Retinol binding protein deficiency (Other disorders of vitamins and cofactors);Posterior segment abnormalities 27604308 False 3 0;0;0 8.110 False ENSG00000138207 ENSG00000138207 HGNC:9922 RFT1 gene RFT1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type In 612015;Flippase of Man5GlcNAc2-PP-Dol deficiency (Disorders of protein N-glycosylation) 27604308 False 3 0;0;0 8.110 False ENSG00000163933 ENSG00000163933 HGNC:30220 RMND1 gene RMND1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 11, 614922;Encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect 27604308 False 3 100;0;0 8.110 False ENSG00000155906 ENSG00000155906 HGNC:21176 RNASEH1 gene RNASEH1 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 Reyes et al., 2005, Am. J. Hum. Genet., 97, 186-193. False 3 100;0;0 8.110 False ENSG00000171865 ENSG00000171865 HGNC:18466 RNASEH2A gene RNASEH2A Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Intracerebral calcification disorders;(Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS4;Inherited white matter disorders 27604308 False 3 100;0;0 8.110 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, OMIM:610181 27604308 False 3 100;0;0 8.110 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;(Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS3;Intracerebral calcification disorders;Inherited white matter disorders 27604308 False 3 100;0;0 8.110 False ENSG00000172922 ENSG00000172922 HGNC:24116 RPIA gene RPIA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Ribose-5-phosphate isomerase deficiency (Disorders of pentose metabolism);Ribose 5-phosphate isomerase deficiency, OMIM:608611 27604308;30088433;14988808;28801340 False 3 0;0;100 8.110 False ENSG00000153574 ENSG00000153574 HGNC:10297 RPL10 gene RPL10 Expert Review Green Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked, syndromic, 35 25316788 False 3 100;0;0 8.110 False ENSG00000147403 ENSG00000147403 HGNC:10298 RRM2B gene RRM2B Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077;Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075;Mitochondrial DNA Depletion Syndrome (recessive);Mitochondrial Ribonucelotide Reductase subunit 2 deficiency (Disorders of purine metabolism);Progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal dominant);Disorders of mitochondrial DNA maintenance and integrity;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 27604308 False 3 100;0;0 8.110 False ENSG00000048392 ENSG00000048392 HGNC:17296 RTN4IP1 gene RTN4IP1 Expert Review Green;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732 28638143;26593267;29181510 False 3 100;0;0 8.110 False ENSG00000130347 ENSG00000130347 HGNC:18647 SACS gene SACS Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type;Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) 12873855 (18 patients from 4 families);15985586 (two siblings);14718706 (two sisters);16606928 (case study);10655055 (17 families with 24 patients);14718708 (two family members) False 3 100;0;0 8.110 False ENSG00000151835 ENSG00000151835 HGNC:10519 SAMHD1 gene SAMHD1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal (Disorders of nucleotide metabolism, Aicardi-Goutieres Syndrome) AGS5;Aicardi-Goutieres syndrome-5 (AGS5);Aicardi-Goutieres syndrome 5, 612952 PMID: 19525956;25604658 False 3 50;0;50 8.110 False ENSG00000101347 ENSG00000101347 HGNC:15925 SAR1B gene SAR1B Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Anderson disease (Inherited hypolipidaemias);CHYLOMICRON RETENTION DISEASE 246700 27604308 False 3 100;0;0 8.110 False ENSG00000152700 ENSG00000152700 HGNC:10535 SARS2 gene SARS2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 27604308 False 3 100;0;0 8.110 False ENSG00000104835 ENSG00000104835 HGNC:17697 SC5D gene SC5D Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Lathosterolosis, 607330;Intellectual disability;Cataracts 27604308;12189593;12812989;30097991 False 3 0;0;0 8.110 False ENSG00000109929 ENSG00000109929 HGNC:10547 SCO1 gene SCO1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048 11013136;19295170;31352446;23878101 False 3 100;0;0 8.110 False ENSG00000133028 ENSG00000133028 HGNC:10603 SCO2 gene SCO2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Mitochondrial Respiratory Chain Complex IV Deficiency;Isolated complex IV deficiency;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377;Myopia 6, 608908 27604308 False 3 100;0;0 8.110 False ENSG00000130489 ENSG00000130489 HGNC:10604 SCP2 gene SCP2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Sterol carrier protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation) 27604308 False 3 0;0;0 8.110 False ENSG00000116171 ENSG00000116171 HGNC:10606 SDHA gene SDHA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 1, OMIM:252011;Neurodegeneration with ataxia and late-onset optic atrophy, OMIM:619259;Cardiomyopathy, dilated, 1GG, OMIM:613642 10976639;27683074;33471299 False 3 100;0;0 8.110 False ENSG00000073578 ENSG00000073578 HGNC:10680 SDHAF1 gene SDHAF1 Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Mitochondrial complex II deficiency, 252011;Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial Respiratory Chain Complex II Deficiency;Isolated complex II deficiency 27604308 False 3 100;0;0 8.110 False ENSG00000205138 ENSG00000205138 HGNC:33867 SDHB gene SDHB Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 4, OMIM:619224 PMID: 26925370;22972948 False 3 100;0;0 8.110 False ENSG00000117118 ENSG00000117118 HGNC:10681 SDHD gene SDHD Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Mitochondrial Diseases;Isolated complex II deficiency 27604308 False 3 100;0;0 8.110 False ENSG00000204370 ENSG00000204370 HGNC:10683 SEC23B gene SEC23B Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anemia, congenital, type II, OMIM:224100;COPII component SEC23B (Disorders of multiple glycosylation and other glycosylation pathways, V-ATPase deficiencies) 22208203;35163229 False 3 0;0;0 8.110 False ENSG00000101310 ENSG00000101310 HGNC:10702 SERAC1 gene SERAC1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739;Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 27604308 False 3 100;0;0 8.110 False ENSG00000122335 ENSG00000122335 HGNC:21061 SETX gene SETX Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002;Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433 27604308 False 3 100;0;0 8.110 False ENSG00000107290 ENSG00000107290 HGNC:445 SFXN4 gene SFXN4 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 18, 615578 24119684 False 3 100;0;0 8.110 False ENSG00000183605 ENSG00000183605 HGNC:16088 SGSH gene SGSH Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Type III;Mucopolysaccharidosis, Type III;Mucopolysaccharidosis Type IIIA;MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses);MUCOPOLYSACCHARIDOSIS TYPE 3A 27604308 False 3 0;0;0 8.110 False ENSG00000181523 ENSG00000181523 HGNC:10818 SHMT2 gene SHMT2 Expert Review Green;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121 33015733 False 3 100;0;0 8.110 False ENSG00000182199 ENSG00000182199 HGNC:10852 SI gene SI Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal CONGENITAL SUCRASE-ISOMALTASE DEFICIENCY 222900;Disaccharide intolerance 1 (Other carbohydrate disorders) 27604308;14724820;8648527;16329100 False 3 100;0;0 8.110 False ENSG00000090402 ENSG00000090402 HGNC:10856 SKIV2L gene SKIV2L Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Infantile enterocolitis & monogenic inflammatory bowel disease;Trichohepatoenteric syndrome 2 (Other metabolic disorders) 27604308 False 3 100;0;0 8.110 False ENSG00000204351 ENSG00000204351 HGNC:10898 SLC12A3 gene SLC12A3 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Gitelman syndrome, OMIM: 263800;Gitelman syndrome, MONDO:0009904 22009145;27604308;26770037;30999883 False 3 100;0;0 8.110 False ENSG00000070915 ENSG00000070915 HGNC:10912 SLC13A3 gene SLC13A3 Expert Review Green;Literature;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate, OMIM:618384 30635937;34966709;35527102;37290914;38235040;33340416 False 3 100;0;0 8.110 False ENSG00000158296 ENSG00000158296 HGNC:14430 SLC16A1 gene SLC16A1 Expert Review Green Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Erythrocyte lactate transporter defect, OMIM:245340;Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021;Monocarboxylate transporter 1 deficiency, OMIM:616095 26608392;17701893 False 3 0;0;0 8.110 False ENSG00000155380 ENSG00000155380 HGNC:10922 SLC17A5 gene SLC17A5 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Salla disease, OMIM:604369;Sialic acid storage disorder, infantile, OMIM:269920 False 3 0;0;0 8.110 False ENSG00000119899 ENSG00000119899 HGNC:10933 SLC18A2 gene SLC18A2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism);Brain Dopamine Serotonin Vesicular Transport Disease (Other disorders of neurotransmitter metabolism) (NO phenotype number in OMIM) 27604308;26497564;23363473 False 3 100;0;0 8.110 False ENSG00000165646 ENSG00000165646 HGNC:10935 SLC19A2 gene SLC19A2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270 27604308 False 3 100;0;0 8.110 False ENSG00000117479 ENSG00000117479 HGNC:10938 SLC19A3 gene SLC19A3 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Biotin-responsive basal ganglia disease (Disorders of thiamine metabolism);Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2),607483 27604308 False 3 100;0;0 8.110 False ENSG00000135917 ENSG00000135917 HGNC:16266 SLC22A5 gene SLC22A5 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary, OMIM:212140;systemic primary carnitine deficiency disease, MONDO:0008919 10545605;11261427;27604308;24816252 False 3 100;0;0 8.110 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A1 gene SLC25A1 Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined D-2- and L-2-hydroxyglutaric aciduria, 615182;Disorders of mitochondrial protein transport;Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) 27604308 False 3 100;0;0 8.110 False ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A12 gene SLC25A12 Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Inherited white matter disorders;Epileptic encephalopathy, early infantile, 39 612949;Hypomyelination, global cerebral, 612949;Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 19641205;27290639;24515575 False 3 100;0;0 8.110 False ENSG00000115840 ENSG00000115840 HGNC:10982 SLC25A13 gene SLC25A13 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Citrullinemia, adult-onset type II 603471;Citrullinemia, adult-onset type II, 603471Citrullinemia, type II, neonatal-onset, 605814;Citrullinemia Type 2 (Urea cycle disorders and inherited hyperammonaemias) 27604308 False 3 100;0;0 8.110 False ENSG00000004864 ENSG00000004864 HGNC:10983 SLC25A15 gene SLC25A15 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970;HHH syndrome (Urea cycle disorders and inherited hyperammonaemias) 27604308 False 3 0;0;0 8.110 False ENSG00000102743 ENSG00000102743 HGNC:10985 SLC25A19 gene SLC25A19 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Microcephaly, Amish type, 607196;Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), 613710;Microcephaly, Amish type (Disorders of thiamine metabolism) 27604308 False 3 100;0;0 8.110 False ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A20 gene SLC25A20 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Carnitine-acylcarnitine translocase deficiency 212138;Carnitine acylcarnitine translocase deficiency (Disorders of carnitine transport and the carnitine cycle) 27604308 False 3 0;0;100 8.110 False ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A22 gene SLC25A22 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 3, 609304;Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 50;0;50 8.110 False ENSG00000177542 ENSG00000177542 HGNC:19954 SLC25A24 gene SLC25A24 Expert list;Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fontaine progeroid syndrome, OMIM:612289;Fontaine progeroid syndrome, MONDO:0012853 29903433;29100093;29100094 False 3 100;0;0 8.110 False ENSG00000085491 ENSG00000085491 HGNC:20662 SLC25A26 gene SLC25A26 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 28;intra-mitochondrial methylation deficiency.;Intra-mitochondrial Methylation Deficiency leading to Clinical findings ranging from neonatal mortality resulting from respiratory insufficiency and hydrops to childhood acute episodes of cardiopulmonary failure and slowly progressive muscle weakness 26522469 False 3 100;0;0 8.110 False ENSG00000144741 ENSG00000144741 HGNC:20661 SLC25A3 gene SLC25A3 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial phosphate carrier deficiency, 610773;Mitochondrial phosphate carrier deficiency 610773;Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) 27604308 False 3 100;0;0 8.110 False ENSG00000075415 ENSG00000075415 HGNC:10989 SLC25A32 gene SLC25A32 Expert list;Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Exercise intolerance, riboflavin-responsive 26933868;28443623 False 3 0;0;0 8.110 False ENSG00000164933 ENSG00000164933 HGNC:29683 SLC25A36 gene SLC25A36 Expert Review Green;Literature;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hyperinsulinemic hypoglycemia, familial, 8, OMIM:620211 34576089;34971397;36695547 False 3 100;0;0 8.110 False ENSG00000114120 ENSG00000114120 HGNC:25554 SLC25A38 gene SLC25A38 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal severe, non-syndromic, microcytic/hypochromic sideroblastic anemia;Disorders of mitochondrial solute import (Mitochondrial respiratory chain disorders (caused by nuclear variants only));nonsyndromic autosomal recessive congenital sideroblastic anemia;congenital sideroblastic anemias PMID: 26821380 (potential novel treatment using glycine and folate).;PMID: 19731322 (12 probands with mutations in this gene);PMID: 25985931 (mutations detected in 3 patients in this gene);PMID: 21393332 (11 patients);PMID: 19412178 False 3 100;0;0 8.110 False ENSG00000144659 ENSG00000144659 HGNC:26054 SLC25A4 gene SLC25A4 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Progressive External Ophthalmoplegia with Mitochondrial DNADeletions;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of mitochondrial DNA maintenance and integrity;Disorders of mitochondrial protein transport;Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283;Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 27604308 False 3 100;0;0 8.110 False ENSG00000151729 ENSG00000151729 HGNC:10990 SLC25A42 gene SLC25A42 Expert Review Green;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression 618416;mitochondrial myopathy 26541337;29923093;29327420 False 3 100;0;0 8.110 False ENSG00000181035 ENSG00000181035 HGNC:28380 SLC25A46 gene SLC25A46 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal optic atrophy spectrum disorder 26168012 False 3 100;0;0 8.110 False ENSG00000164209 ENSG00000164209 HGNC:25198 SLC2A1 gene SLC2A1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Intellectual disability;Early onset dystonia;Cataracts;Glucose transporter 1 deficiency (blood-brain barrier) (Disorders of glucose transport);Hereditary ataxia;Epileptic encephalopathy;Familial Genetic Generalised Epilepsies;GLUT1 deficiency syndrome 1, infantile onset, severe, 606777;GLUT1 deficiency syndrome 2, childhood onset, 612126 27604308 False 3 0;0;0 8.110 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC2A2 gene SLC2A2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease type XI (Glycogen storage disorders);Glycogen Storage Disorders- Liver;Glucose transporter 2 deficiency (Disorders of glucose transport);Fanconi-Bickel Syndrome;renal falcon syndrome, aminoaciduria phosphaturia, small stature, malabsorption, hepatomegaly and nephromegaly. 27604308 False 3 0;0;0 8.110 False ENSG00000163581 ENSG00000163581 HGNC:11006 SLC30A10 gene SLC30A10 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 1, OMIM:613280 27604308 False 3 0;0;0 8.110 False ENSG00000196660 ENSG00000196660 HGNC:25355 SLC35A1 gene SLC35A1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIf 603585;Congenital disorder of glycosylation, type Iif, 603585;CMP-sialic acid transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways) 27604308;23873973;28856833;15576474;30115659 False 3 0;0;100 8.110 False ENSG00000164414 ENSG00000164414 HGNC:11021 SLC35A2 gene SLC35A2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual disability;Congenital disorder of glycosylation, type IIm 300896;SLC35A2-CDG (other congenital disorders of glycosylation) 27743886;25778940;23561849 False 3 100;0;0 8.110 False ENSG00000102100 ENSG00000102100 HGNC:11022 SLC35C1 gene SLC35C1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal GDP-fucose transporter deficiency (Disorders of multiple glycosylation and other glycosylation pathways);Congenital disorder of glycosylation, type IIc 266265 12476046;11326280 False 3 0;0;0 8.110 False ENSG00000181830 ENSG00000181830 HGNC:20197 SLC35D1 gene SLC35D1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal 9.2.3. O-xylosyl/N-acetylgalactosaminylglycan synthesis deficiencies (Disorders of protein O-glycosylation) 19508970;17952091 False 3 0;0;0 8.110 False ENSG00000116704 ENSG00000116704 HGNC:20800 SLC37A4 gene SLC37A4 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Glycogen storage disease Ib, OMIM:232220;Glycogen storage disease Ic, OMIM:232240;Congenital disorder of glycosylation, type IIw, OMIM:619525 27604308 False 3 0;0;0 8.110 False ENSG00000137700 ENSG00000137700 HGNC:4061 SLC39A14 gene SLC39A14 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 2 27231142 False 3 100;0;0 8.110 False ENSG00000104635 ENSG00000104635 HGNC:20858 SLC39A4 gene SLC39A4 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Acrodermatitis enteropathica (Disorder of zinc metabolism);Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism) 27604308 False 3 100;0;0 8.110 False ENSG00000147804 ENSG00000147804 HGNC:17129 SLC39A8 gene SLC39A8 Expert list;Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIn 616721;Hypomagnesaemia with cerebellar atrophy, hypotonia, strabismus, developmental delay, short stature, mild skeletal dysplasia, and connective tissue abnormalities (Disorder of magnesium metabolism) 26637978;26637979 False 3 50;0;50 8.110 False ENSG00000138821 ENSG00000138821 HGNC:20862 SLC3A1 gene SLC3A1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Renal tract calcification (or Nephrolithiasis/nephrocalcinosis);Cystinuria (Disorders of amino acid transport);Hypotonia-cystinuria syndrome (Disorders of amino acid transport) 27604308 False 3 100;0;0 8.110 False ENSG00000138079 ENSG00000138079 HGNC:11025 SLC40A1 gene SLC40A1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hemochromatosis, type 4 606069 (Disorder of iron metabolism);Hereditary haemochromatosis Type 4 (Disorder of iron metabolism) 27604308;11518736;11431687;10471458 False 3 100;0;0 8.110 False ENSG00000138449 ENSG00000138449 HGNC:10909 SLC46A1 gene SLC46A1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Folate malabsorption, hereditary, OMIM:229050;Hereditary folate malabsorption (Disorders of folate metabolism and transport) 27604308 False 3 0;0;0 8.110 False ENSG00000076351 ENSG00000076351 HGNC:30521 SLC52A2 gene SLC52A2 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2 614707 False 3 0;0;100 8.110 False ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 1, OMIM:211530;Brown-Vialetto-van Laere syndrome 1, MONDO:0024537;?Fazio-Londe disease, OMIM:211500;riboflavin transporter deficiency, MONDO:0008891 22718020;29053833;34384672;38469093;40539137 False 3 50;0;50 8.110 False ENSG00000101276 ENSG00000101276 HGNC:16187 SLC5A1 gene SLC5A1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glucose/galactose malabsorption (Disorders of glucose transport);Glucose/galactose malabsorption 606824 (Disorders of glucose transport) 27604308 False 3 100;0;0 8.110 False ENSG00000100170 ENSG00000100170 HGNC:11036 SLC5A6 gene SLC5A6 Expert Review Green;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, infantile-onset, biotin-responsive, OMIM:618973 27904971;31392107;31754459;23104561;29669219 False 3 100;0;0 8.110 False ENSG00000138074 ENSG00000138074 HGNC:11041 SLC6A19 gene SLC6A19 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hartnup disorder, OMIM:234500 27604308;20399395;19335424;19033659 False 3 100;0;0 8.110 False ENSG00000174358 ENSG00000174358 HGNC:27960 SLC6A3 gene SLC6A3 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Early onset dystonia;Dopamine transporter deficiency syndrome (Other disorders of neurotransmitter metabolism);Parkinson Disease and Complex Parkinsonism 27604308 False 3 100;0;0 8.110 False ENSG00000142319 ENSG00000142319 HGNC:11049 SLC6A8 gene SLC6A8 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability;Creatine transporter deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism) 27604308 False 3 100;0;0 8.110 False ENSG00000130821 ENSG00000130821 HGNC:11055 SLC7A7 gene SLC7A7 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Lysinuric protein intolerance (Disorders of amino acid transport);Lysinuric protein intolerance 222700 27604308 False 3 0;0;0 8.110 False ENSG00000155465 ENSG00000155465 HGNC:11065 SLC7A9 gene SLC7A9 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Renal tract calcification (or Nephrolithiasis/nephrocalcinosis);Cystinuria (Disorders of amino acid transport) 27604308;24816252;12239244 False 3 100;0;0 8.110 False ENSG00000021488 ENSG00000021488 HGNC:11067 SMPD1 gene SMPD1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type A, 257200;Niemann-Pick disease, type B, 607616 27604308 False 3 0;0;0 8.110 False ENSG00000166311 ENSG00000166311 HGNC:11120 SPATA5 gene SPATA5 Expert Review Green;Literature;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577 27246907;29343804;26299366;28293831;30009132;36849973 False 3 100;0;0 8.110 False ENSG00000145375 ENSG00000145375 HGNC:18119 SPG7 gene SPG7 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive, OMIM:607259;hereditary spastic paraplegia 7, MONDO:0011803 27604308;9635427;16534102;17646629;18200586;20186691;22571692;30252181;33045469;39978794 False 3 100;0;0 8.110 False ENSG00000197912 ENSG00000197912 HGNC:11237 SPR gene SPR Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716;Sepiapterin reductase deficiency (Disorders of pterin metabolism) 27604308;22018912;22522443;22018912;24588500;28189489;21431957;16650784 False 3 100;0;0 8.110 False ENSG00000116096 ENSG00000116096 HGNC:11257 SPTLC1 gene SPTLC1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease;Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis);Familial dysautonomia 27604308;21618344;20097765;30420926 False 3 100;0;0 8.110 False ENSG00000090054 ENSG00000090054 HGNC:11277 SPTLC2 gene SPTLC2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease;Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis);Familial dysautonomia 27604308;20920666 False 3 100;0;0 8.110 False ENSG00000100596 ENSG00000100596 HGNC:11278 SQOR gene SQOR Expert Review Green;Literature;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Sulfide:quinone oxidoreductase deficiency, OMIM:619221 32160317 False 3 67;33;0 8.110 False ENSG00000137767 ENSG00000137767 HGNC:20390 SRD5A3 gene SRD5A3 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal SRD5A3-CDG (Disorders of protein N-glycosylation);Congenital disorder of glycosylation, type Iq 612379 27604308 False 3 0;0;0 8.110 False ENSG00000128039 ENSG00000128039 HGNC:25812 SSBP1 gene SSBP1 Expert list;Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Optic atrophy 13 with retinal and foveal abnormalities, OMIM:165510 31298765;31550240;31550237;30412255;31479473;34905022 False 3 0;0;0 8.110 False ENSG00000106028 ENSG00000106028 HGNC:11317 SSR4 gene SSR4 Expert Review Green Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital disorder of glycosylation, type Iy 300934 26264460 False 3 0;0;0 8.110 False ENSG00000180879 ENSG00000180879 HGNC:11326 ST3GAL3 gene ST3GAL3 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 15, OMIM:615006;developmental and epileptic encephalopathy, 15, MONDO:0014003;Intellectual developmental disorder, autosomal recessive 12, OMIM:611090;intellectual disability, autosomal recessive 12, MONDO:0012612 27604308;21907012;23252400;31584066;17120046;25529582 False 3 100;0;0 8.110 False ENSG00000126091 ENSG00000126091 HGNC:10866 ST3GAL5 gene ST3GAL5 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Lactosylceramide alpha-2,3-sialyltransferase deficiency (Disorders of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation);Salt and pepper developmental regression syndrome 609056;GM3 synthase deficiency (Disorders of complex lipid synthesis) 24026681;15502825 False 3 0;0;0 8.110 False ENSG00000115525 ENSG00000115525 HGNC:10872 STS gene STS Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) X-linked ichthyosis (Other disorders in the metabolism of sterols);Autosomal recessive congenital ichthyosis 27604308;1539590;29672931 False 3 100;0;0 8.110 False ENSG00000101846 ENSG00000101846 HGNC:11425 STT3A gene STT3A Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714;Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596 23842455;28424003;30701557;34653363 False 3 100;0;0 8.110 False ENSG00000134910 ENSG00000134910 HGNC:6172 SUCLA2 gene SUCLA2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), OMIM:612073;Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of mitochondrial DNA maintenance and integrity 27604308 False 3 100;0;0 8.110 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUCLG1 gene SUCLG1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Mitochondrial DNA Depletion Syndrome;Disorders of mitochondrial DNA maintenance and integrity;Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria),245400 27604308 False 3 100;0;0 8.110 False ENSG00000163541 ENSG00000163541 HGNC:11449 SUMF1 gene SUMF1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple sulfatase deficiency 27604308 False 3 0;0;0 8.110 False ENSG00000144455 ENSG00000144455 HGNC:20376 SUOX gene SUOX Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Sulfite oxidase deficiency 27604308;27289259;12112661 False 3 0;0;0 8.110 False ENSG00000139531 ENSG00000139531 HGNC:11460 SUPV3L1 gene SUPV3L1 Expert Review Green;Literature;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial RNA Helicase SUPV3L1-Associated neurodegenerative syndrome 35023579;39596606 False 3 100;0;0 8.110 False ENSG00000156502 ENSG00000156502 HGNC:11471 SURF1 gene SURF1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Complex IV deficiency;Leigh Syndrome;Isolated complex IV deficiency;Leigh syndrome, due to COX deficiency, 256000;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) 27604308 False 3 100;0;0 8.110 False ENSG00000148290 ENSG00000148290 HGNC:11474 TACO1 gene TACO1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Multiple respiratory chain complex deficiencies (disorders of protein synthesis);?Mitochondrial complex IV deficiency, 220110;Isolated complex IV deficiency;Mitochondrial Respiratory Chain Complex IV Deficiency;Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) 27604308 False 3 100;0;0 8.110 False ENSG00000136463 ENSG00000136463 HGNC:24316 TALDO1 gene TALDO1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Transaldolase deficiency 15877206;26238251;21119539;11283793;17095351;27604308;18331807;23315216 False 3 0;0;0 8.110 False ENSG00000177156 ENSG00000177156 HGNC:11559 TAMM41 gene TAMM41 Expert Review Green;Literature;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 56, OMIM:620139 35321494 False 3 100;0;0 8.110 False ENSG00000144559 ENSG00000144559 HGNC:25187 TANGO2 gene TANGO2 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878 26805782;26805781;30245509 False 3 67;0;33 8.110 False ENSG00000183597 ENSG00000183597 HGNC:25439 TARS2 gene TARS2 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 21, OMIM:615918 33153448;24827421;34508595 False 3 100;0;0 8.110 False ENSG00000143374 ENSG00000143374 HGNC:30740 TAT gene TAT Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Tyrosinaemia type II (Disorders of phenylalanine or tyrosine metabolism) 27604308;28255985 False 3 100;0;0 8.110 False ENSG00000198650 ENSG00000198650 HGNC:11573 TAZ gene TAZ Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Disorders of mitochondrial membrane lipids (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Barth syndrome, 302060;Methylglutaconic aciduria type II, Barth syndrome (Organic acidurias);Disorders of mitochondrial lipid metabolism 27604308 False 3 100;0;0 8.110 False ENSG00000102125 ENSG00000102125 HGNC:11577 TCN2 gene TCN2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital neutropaenia;Intellectual disability;A- or hypo-gammaglobulinaemia;Agranulocytosis;Combined B and T cell defect;SCID;Transcobalamin II deficiency (Disorders of cobalamin absorption, transport and metabolism) 27604308;19373259 False 3 100;0;0 8.110 False ENSG00000185339 ENSG00000185339 HGNC:11653 TEFM gene TEFM Expert Review Green;Literature;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 58, OMIM:620451 36823193 False 3 100;0;0 8.110 False ENSG00000172171 ENSG00000172171 HGNC:26223 TFAM gene TFAM Expert list;Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), OMIM:617156 27448789;31785789;32399598;34647195 False 3 100;0;0 8.110 False ENSG00000108064 ENSG00000108064 HGNC:11741 TFR2 gene TFR2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 3 604250;Hereditary haemochromatosis Type 3 (Disorder of iron metabolism) 27604308 False 3 100;0;0 8.110 False ENSG00000106327 ENSG00000106327 HGNC:11762 TH gene TH Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Early onset dystonia;Tyrosine hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines);Parkinson Disease and Complex Parkinsonism 27604308;24753243 False 3 100;0;0 8.110 False ENSG00000180176 ENSG00000180176 HGNC:11782 TIMM50 gene TIMM50 Expert list;Expert Review;Expert Review Green;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type IX 617698 27573165 False 3 50;50;0 8.110 False ENSG00000105197 ENSG00000105197 HGNC:23656 TIMM8A gene TIMM8A Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Mohr-Tranebjaerg syndrome, 304700;Jensen syndrome, 311150;Disorders of the mitochondrial import system;Disorders of mitochondrial protein import (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Deafness, X-linked 1, progressive 27604308 False 3 100;0;0 8.110 False ENSG00000126953 ENSG00000126953 HGNC:11817 TIMMDC1 gene TIMMDC1 Expert list;Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 31, OMIM:618251 28604674;33278652 False 3 100;0;0 8.110 False ENSG00000113845 ENSG00000113845 HGNC:1321 TK2 gene TK2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, OMIM:617069 27604308 False 3 100;0;0 8.110 False ENSG00000166548 ENSG00000166548 HGNC:11831 TMEM126B gene TMEM126B Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Isolated complex I deficiency 27374773;27374774 False 3 50;50;0 8.110 False ENSG00000171204 ENSG00000171204 HGNC:30883 TMEM165 gene TMEM165 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIk 614727;CDG2K (other congenital disorders of glycosylation) 27604308 False 3 0;0;0 8.110 False ENSG00000134851 ENSG00000134851 HGNC:30760 TMEM199 gene TMEM199 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIp 616829 26833330 False 3 0;0;0 8.110 False ENSG00000244045 ENSG00000244045 HGNC:18085 TMEM5 gene TMEM5 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10 27212206 False 3 0;0;0 8.110 False ENSG00000118600 ENSG00000118600 HGNC:13530 TMEM70 gene TMEM70 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052;Isolated complex V deficiency;Complex V (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2;Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type 27604308 False 3 100;0;0 8.110 False ENSG00000175606 ENSG00000175606 HGNC:26050 TOMM7 gene TOMM7 Expert Review Green;Literature;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Garg-Mishra progeroid syndrome, OMIM:620601;Garg-Mishra progeroid syndrome, MONDO:0957953 36282599;36299998;39333057 False 3 50;50;0 8.110 False ENSG00000196683 ENSG00000196683 HGNC:21648 TOP3A gene TOP3A Expert list;Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5, 618098 29290614 False 3 0;0;100 8.110 False ENSG00000177302 ENSG00000177302 HGNC:11992 TPK1 gene TPK1 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 False 3 100;0;0 8.110 False ENSG00000196511 ENSG00000196511 HGNC:17358 TPP1 gene TPP1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Ceroid lipofuscinosis, neuronal, 2;CLN2, Jansky-Bielschowsky disease (Ceroid lipfuscinoses, neuronal);Hereditary ataxia 27604308 False 3 0;0;0 8.110 False ENSG00000166340 ENSG00000166340 HGNC:2073 TRAP1 gene TRAP1 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal VACTERL;CAKUT PMID: 24152966 - recessive mutations reported in 2 families with CAKUT, and 3 families with VACTERL. False 3 100;0;0 8.110 False ENSG00000126602 ENSG00000126602 HGNC:16264 TREX1 gene TREX1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Intellectual disability;Familial cerebral small vessel disease;Intracerebral calcification disorders;(Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS1;Inherited white matter disorders 27604308;12624136;25604658 False 3 100;0;0 8.110 False ENSG00000213689 ENSG00000213689 HGNC:12269 TRIM37 gene TRIM37 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mulibrey nanism (Other peroxisomal disorders);Mulibrey nanism 27604308 False 3 0;0;0 8.110 False ENSG00000108395 ENSG00000108395 HGNC:7523 TRIT1 gene TRIT1 Expert Review Green;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 35, OMIM :617873;combined oxidative phosphorylation deficiency 35, MONDO:0054742 24901367;28185376 False 3 100;0;0 8.110 False ENSG00000043514 ENSG00000043514 HGNC:20286 TRMT10C gene TRMT10C Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 30, 616974 27132592 False 3 0;100;0 8.110 False ENSG00000174173 ENSG00000174173 HGNC:26022 TRMT5 gene TRMT5 Expert Review Green;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539 29021354;26189817 False 3 100;0;0 8.110 False ENSG00000126814 ENSG00000126814 HGNC:23141 TRMU gene TRMU Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal {Deafness, mitochondrial, modifier of}, 580000;Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Liver failure, transient infantile, 613070 27604308 False 3 100;0;0 8.110 False ENSG00000100416 ENSG00000100416 HGNC:25481 TRNT1 gene TRNT1 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal congenital sideroblastic anemia with B cell immunodeficiency, fevers, and developmental delay (SIFD);retinitis pigmentosa with erythrocytic microcytosis 25652405;26494905 False 3 100;0;0 8.110 False ENSG00000072756 ENSG00000072756 HGNC:17341 TRPM6 gene TRPM6 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 1, intestinal 602014;Hypomagnesaemia type 1, intestinal (Disorder of magnesium metabolism) 27604308;23942199;12032570 False 3 100;0;0 8.110 False ENSG00000119121 ENSG00000119121 HGNC:17995 TRPM7 gene TRPM7 Expert Review Green;Literature;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown hypomagnesaemia with secondary hypocalcaemia 39099563;35712613;35561741 False 3 100;0;0 8.110 False ENSG00000092439 ENSG00000092439 HGNC:17994 TSFM gene TSFM Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3, 610505;Combined oxidative phosphorylation deficiency 3 610505;Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308 False 3 100;0;0 8.110 False ENSG00000123297 ENSG00000123297 HGNC:12367 TTC19 gene TTC19 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial Diseases;Isolated complex III deficiency;Mitochondrial Respiratory Chain Complex III Deficiency;Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Mitochondrial complex III deficiency, nuclear type 2, 615157 27604308 False 3 100;0;0 8.110 False ENSG00000011295 ENSG00000011295 HGNC:26006 TTC37 gene TTC37 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Infantile enterocolitis & monogenic inflammatory bowel disease;Trichohepatoenteric syndrome 1 (Other metabolic disorders) 27604308;25976726;28292286;31132033 False 3 67;0;33 8.110 False ENSG00000198677 ENSG00000198677 HGNC:23639 TTPA gene TTPA Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal TTP1 deficiency (Other disorders of vitamins and cofactors);Hereditary ataxia 27604308;26981194 False 3 100;0;0 8.110 False ENSG00000137561 ENSG00000137561 HGNC:12404 TUFM gene TUFM Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 4 610678;Combined oxidative phosphorylation deficiency 4, 610678 26741492;17160893;25735936;28132884 False 3 100;0;0 8.110 False ENSG00000178952 ENSG00000178952 HGNC:12420 TUSC3 gene TUSC3 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder, autosomal recessive 7, OMIM:611093 18452889;18455129;21739581;26864433;27148795 False 3 0;0;0 8.110 False ENSG00000104723 ENSG00000104723 HGNC:30242 TWNK gene TWNK Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR);Perrault syndrome 5, OMIM:616138 (AR);Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD) 27604308 False 3 100;0;0 8.110 False ENSG00000107815 ENSG00000107815 HGNC:1160 TYMP gene TYMP Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Thymidine phosphorylase deficiency (Disorders of pyrimidine metabolism);Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Disorders of mitochondrial DNA maintenance and integrity;Mitochondrial Neurogastrointestinal Encephalopathy Disease;Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 27604308;24816252 False 3 100;0;0 8.110 False ENSG00000025708 ENSG00000025708 HGNC:3148 UGGT1 gene UGGT1 Expert Review Green;Literature;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal congenital disorder of glycosylation, MONDO:0015286 40267907 False 3 100;0;0 8.110 False ENSG00000136731 ENSG00000136731 HGNC:15663 UGT1A1 gene UGT1A1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Crigler-Najjar syndrome, type I 218800;Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport);Crigler-Najjar syndrome, type II 606785 27604308;24816252 False 3 100;0;0 8.110 False ENSG00000241635 ENSG00000241635 HGNC:12530 UMOD gene UMOD Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cystic kidney disease;Unexplained kidney failure in young people;Familial juvenile hyperuricaemic nephropathy (Disorders of purine metabolism) 27604308;31422399;29180396 False 3 100;0;0 8.110 False ENSG00000169344 ENSG00000169344 HGNC:12559 UMPS gene UMPS Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Orotic aciduria;Orotic aciduria (Disorders of pyrimidine metabolism) 27604308;9042911 False 3 0;0;0 8.110 False ENSG00000114491 ENSG00000114491 HGNC:12563 UPB1 gene UPB1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism);Beta-ureidopropionase deficiency 613161 27604308;24526388;25638458;22525402;15385443;17964839 False 3 50;0;50 8.110 False ENSG00000100024 ENSG00000100024 HGNC:16297 UQCC2 gene UQCC2 Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824 28804536;24385928 False 3 50;50;0 8.110 False ENSG00000137288 ENSG00000137288 HGNC:21237 UQCRB gene UQCRB Expert Review Green;London North GLH;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158;Complex III (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Isolated complex III deficiency 25446085;28604960;12709789;23454382 False 3 50;0;50 8.110 False ENSG00000156467 ENSG00000156467 HGNC:12582 UQCRC2 gene UQCRC2 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 5, OMIM:615160 23281071;28275242;33865955 False 3 75;25;0 8.110 False ENSG00000140740 ENSG00000140740 HGNC:12586 UQCRFS1 gene UQCRFS1 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775 31883641 False 3 67;33;0 8.110 False ENSG00000169021 ENSG00000169021 HGNC:12587 UROD gene UROD Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Porphyria cutanea tarda (Porphyrias with erosive photodermatosis) 27604308 False 3 50;0;50 8.110 False ENSG00000126088 ENSG00000126088 HGNC:12591 UROS gene UROS Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis);Porphyria, congenital erythropoietic 263700 27604308 False 3 100;0;0 8.110 False ENSG00000188690 ENSG00000188690 HGNC:12592 VARS2 gene VARS2 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Combined oxidative phosphorylation deficiency 20, 615917 False 3 100;0;0 8.110 False ENSG00000137411 ENSG00000137411 HGNC:21642 VIPAS39 gene VIPAS39 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404;ARC syndrome 27604308;22753090;26808426 False 3 100;0;0 8.110 False ENSG00000151445 ENSG00000151445 HGNC:20347 VKORC1 gene VKORC1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Vitamin K-dependent clotting factors, combined deficiency of, 2, OMIM:607473 27604308 False 3 100;0;0 8.110 False ENSG00000167397 ENSG00000167397 HGNC:23663 VPS16 gene VPS16 Expert Review Green;NHS GMS;Other Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis-like syndrome (biallelic);Dystonia Associated with Lysosomal Abnormalities (monoallelic);Dystonia 30, OMIM:619291 33938619;34013567 False 3 100;0;0 8.110 False ENSG00000215305 ENSG00000215305 HGNC:14584 VPS33A gene VPS33A Expert Review Green;NHS GMS;Other Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis-plus syndrome OMIM:617303;mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders MONDO:0015012 28013294;27547915;31070736 False 3 100;0;0 8.110 False ENSG00000139719 ENSG00000139719 HGNC:18179 VPS33B gene VPS33B Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Inherited bleeding disorders;Unexplained kidney failure in young people;CAKUT;ARC Syndrome (Other metabolic disorders);Arthrogryposis 27604308;18853461 False 3 100;0;0 8.110 False ENSG00000184056 ENSG00000184056 HGNC:12712 WARS2 gene WARS2 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 28650581;28905505;28236339 False 3 50;50;0 8.110 False ENSG00000116874 ENSG00000116874 HGNC:12730 WDR45 gene WDR45 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic 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 27604308 False 3 0;0;0 8.110 False ENSG00000196998 ENSG00000196998 HGNC:28912 WFS1 gene WFS1 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Wolfram syndrome 1, OMIM:222300;Wolfram-like syndrome, autosomal dominant, OMIM:614296;Diabetes mellitus, noninsulin-dependent, association with, OMIM:125853 27604308;30171196;33693650 False 3 50;0;50 8.110 False ENSG00000109501 ENSG00000109501 HGNC:12762 XDH gene XDH Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Xanthinuria type II (Disorders of purine metabolism);Xanthinuria type I (Disorders of purine metabolism) 27604308 False 3 100;0;0 8.110 False ENSG00000158125 ENSG00000158125 HGNC:12805 XPNPEP3 gene XPNPEP3 Expert Review Green;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1 OMIM:613159;nephronophthisis-like nephropathy 1 MONDO:0013163 20179356;32660933 False 3 100;0;0 8.110 False ENSG00000196236 ENSG00000196236 HGNC:28052 XYLT1 gene XYLT1 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Desbuquois dysplasia 2, OMIM:615777;Desbuquois dysplasia 2, MONDO:0014343 23982343;24581741;22711505;30554721 False 3 100;0;0 8.110 False ENSG00000103489 ENSG00000103489 HGNC:15516 XYLT2 gene XYLT2 Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Spondyloocular syndrome 26987875;26027496 False 3 0;0;0 8.110 False ENSG00000015532 ENSG00000015532 HGNC:15517 YARS2 gene YARS2 Expert Review Green;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis);Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only));Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 27604308 False 3 100;0;0 8.110 False ENSG00000139131 ENSG00000139131 HGNC:24249 ALG13 gene ALG13 Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic 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 Is 300884;Epileptic encephalopathy, early infantile, 36 300884" 27604308;25732998;22492991 False 2 0;0;0 8.110 False ENSG00000101901 ENSG00000101901 HGNC:30881 ALG2 gene ALG2 Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 14, with tubular aggregates 616228;Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation);?Congenital disorder of glycosylation, type Ii 607906 12684507;23404334 False 2 0;0;100 8.110 False ENSG00000119523 ENSG00000119523 HGNC:23159 ATP5B gene ATP5B Expert Review Amber Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation 2, OMIM: 620085 36239646;36860166 False 2 0;100;0 8.110 False ENSG00000110955 ENSG00000110955 HGNC:830 CD320 gene CD320 Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, transient, due to transcobalamin receptor defect, OMIM:613646;methylmalonic acidemia due to transcobalamin receptor defect, MONDO:0013341 20524213;22819238;23754956;27604308 False 2 0;100;0 8.110 False ENSG00000167775 ENSG00000167775 HGNC:16692 CLCN7 gene CLCN7 Expert Review Amber;Literature Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypopigmentation, organomegaly, and delayed myelination and development, OMIM:618541 31155284 False 2 0;100;0 8.110 False 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 COA3 gene COA3 Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Ostergaard et al., 2015, J. Med. Genet., 52, 203-207. False 2 50;50;0 8.110 False ENSG00000183978 ENSG00000183978 HGNC:24990 COASY gene COASY Expert list;Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 6, 615643;Pontocerebellar hypoplasia, type 12, 618266 30089828;27021474;36495139 False 2 0;100;0 8.110 False ENSG00000068120 ENSG00000068120 HGNC:29932 COG3 gene COG3 Expert Review Amber;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIbb, OMIM:620546 37711075 False 2 0;100;0 8.110 False ENSG00000136152 ENSG00000136152 HGNC:18619 COX4I2 gene COX4I2 Expert Review Amber;London North GLH;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714 27604308;19268275;22592081 False 2 50;0;50 8.110 False ENSG00000131055 ENSG00000131055 HGNC:16232 CSTB gene CSTB Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 27604308 False 2 0;0;0 8.110 False ENSG00000160213 ENSG00000160213 HGNC:2482 DCC gene DCC Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 2 28250456 False 2 0;100;0 8.110 False ENSG00000187323 ENSG00000187323 HGNC:2701 DHDDS gene DHDDS Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 59, OMIM:613861;?Congenital disorder of glycosylation, type 1bb, OMIM:613861 21295282;21295283;27343064 False 2 0;0;0 8.110 False ENSG00000117682 ENSG00000117682 HGNC:20603 EHHADH gene EHHADH Expert Review Amber;Literature Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Fanconi renotubular syndrome 3, OMIM:615605;L-bifunctional protein deficiency;Metabolic acidosis;Increased amino acids in urine 24401050;27160910;33340416 False 2 0;100;0 8.110 False ENSG00000113790 ENSG00000113790 HGNC:3247 ERAL1 gene ERAL1 Expert list;Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 6, 617565 28449065 False 2 0;0;0 8.110 False ENSG00000132591 ENSG00000132591 HGNC:3424 GATC gene GATC Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 42, OMIM:618839 30283131 False 2 0;100;0 8.110 False ENSG00000257218 ENSG00000257218 HGNC:25068 IDH1 gene IDH1 Expert Review Amber;Literature;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria OMIM:614875;metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria, MONDO:0013941;Maffucci syndrome, OMIM:614569;Maffucci syndrome, MONDO:0013808;Ollier disease/ Dyschondroplasia, OMIM:166000;Ollier disease, MONDO:0008145 24049096;22025298;22057234;22057236;33340416 False 2 67;33;0 8.110 False ENSG00000138413 ENSG00000138413 HGNC:5382 LDHD gene LDHD Expert Review Amber;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal D-lactic aciduria with susceptibility to gout, OMIM:245450;lactic aciduria due to D-lactic acid, MONDO:0009505 30931947;31638601;34258137;37021930 False 2 50;50;0 8.110 False ENSG00000166816 ENSG00000166816 HGNC:19708 LIPC gene LIPC Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hepatic lipase deficiency, 614025;[High density lipoprotein cholesterol level QTL 12] 612797;{Diabetes mellitus, noninsulin-dependent} 125853 27604308;1671786;12777476;22464213;23219720 False 2 0;0;0 8.110 False ENSG00000166035 ENSG00000166035 HGNC:6619 MRPS14 gene MRPS14 Expert list;Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 38, OMIM:618378 30358850 False 2 0;0;0 8.110 False ENSG00000120333 ENSG00000120333 HGNC:14049 MRPS16 gene MRPS16 Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 2 610498 27604308;28749478;15505824 False 2 33;33;33 8.110 False ENSG00000182180 ENSG00000182180 HGNC:14048 MRPS7 gene MRPS7 Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 25556185 False 2 50;0;50 8.110 False ENSG00000125445 ENSG00000125445 HGNC:14499 MT-RNR2 gene MT-RNR2 Expert Review Amber Likely inborn error of metabolism Metabolic MITOCHONDRIAL False 2 50;50;0 8.110 False ENSG00000210082 ENSG00000210082 HGNC:7471 NDUFA5 gene NDUFA5 Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal mitochondrial complex I deficiency, MONDO:0100133 41859003;41916321 False 2 50;50;0 8.110 False ENSG00000128609 ENSG00000128609 HGNC:7688 NDUFB9 gene NDUFB9 Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex I deficiency, nuclear type 24 618245 22200994 False 2 100;0;0 8.110 False ENSG00000147684 ENSG00000147684 HGNC:7704 OPLAH gene OPLAH Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal 5-oxoprolinase deficiency 260005 27604308;21651516;23430506;27477828 False 2 0;0;0 8.110 False ENSG00000178814 ENSG00000178814 HGNC:8149 PAICS gene PAICS Expert Review Amber;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Phosphoribosylaminoimidazole carboxylase deficiency, OMIM:619859 31600779;39604553;39726239 False 2 100;0;0 8.110 False ENSG00000128050 ENSG00000128050 HGNC:8587 PET117 gene PET117 Expert list;Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 19, OMIM:619063 28386624 False 2 0;0;0 8.110 False ENSG00000232838 ENSG00000232838 HGNC:40045 PSPH gene PSPH Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Phosphoserine phosphatase deficiency 614023 27604308;24816252 False 2 0;100;0 8.110 False ENSG00000146733 ENSG00000146733 HGNC:9577 RANBP2 gene RANBP2 Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acute necrotizing encephalopathy (Other metabolic disorders) 27604308 False 2 100;0;0 8.110 False ENSG00000153201 ENSG00000153201 HGNC:9848 RNASET2 gene RNASET2 Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;RNASET2-deficient cystic leukoencephalopathy (Disorders of nucleotide metabolism);Inherited white matter disorders 27604308 False 2 0;100;0 8.110 False ENSG00000026297 ENSG00000026297 HGNC:21686 RYR1 gene RYR1 Expert Review Amber Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Rhabdomyolysis and metabolic muscle disorders False 2 0;100;0 8.110 False ENSG00000196218 ENSG00000196218 HGNC:10483 SDHAF2 gene SDHAF2 Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mitochondrial Diseases;Isolated complex II deficiency;Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Neuro-endocrine Tumours- PCC and PGL;Multiple endocrine tumours;Multiple Tumours 27604308 False 2 33;33;33 8.110 False ENSG00000167985 ENSG00000167985 HGNC:26034 SDHC gene SDHC Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mitochondrial Diseases;Isolated complex II deficiency;Neuro-endocrine Tumours- PCC and PGL;Multiple endocrine tumours;Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Multiple Tumours 27604308 False 2 50;50;0 8.110 False ENSG00000143252 ENSG00000143252 HGNC:10682 SLC31A1 gene SLC31A1 Expert Review Amber;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092 35913762;36562171 False 2 0;100;0 8.110 False ENSG00000136868 ENSG00000136868 HGNC:11016 SSR3 gene SSR3 Expert Review Amber;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation 30945312 False 2 0;100;0 8.110 False ENSG00000114850 ENSG00000114850 HGNC:11325 STAT2 gene STAT2 Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 44 616636;elongated mitochondria;severe neurological deterioration following viral infection PMID: 26122121 False 2 75;0;25 8.110 False ENSG00000170581 ENSG00000170581 HGNC:11363 TKFC gene TKFC Expert Review Amber;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Triokinase and FMN cyclase deficiency syndrome, 618805 32004446 False 2 0;100;0 8.110 False ENSG00000149476 ENSG00000149476 HGNC:24552 TMEM65 gene TMEM65 Expert list;Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal TMEM65 related mitochondrial encephalopmyopathy 28295037 False 2 0;0;0 8.110 False ENSG00000164983 ENSG00000164983 HGNC:25203 TRAPPC11 gene TRAPPC11 Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 18 OMIM:615356;autosomal recessive limb-girdle muscular dystrophy type 2S MONDO:0014144 23830518;26322222;29855340;30105108;26912795;27707803;27862579;28484880 False 2 0;100;0 8.110 False ENSG00000168538 ENSG00000168538 HGNC:25751 UQCC3 gene UQCC3 Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex III deficiency, nuclear type, 616111;Isolated complex III deficiency 28804536;25008109 False 2 100;0;0 8.110 False ENSG00000204922 ENSG00000204922 HGNC:34399 UQCRC1 gene UQCRC1 Expert Review Amber Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinsonism with polyneuropathy, OMIM:619279 30788857;33141179;33779694;33248804 False 2 0;100;0 8.110 False ENSG00000010256 ENSG00000010256 HGNC:12585 UQCRQ gene UQCRQ Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 4, 615159 18439546;27604308 False 2 100;0;0 8.110 False ENSG00000164405 ENSG00000164405 HGNC:29594 UROC1 gene UROC1 Expert Review Amber;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Intellectual disability;Urocanase deficiency (Disorders of histidine, tryptophan or lysine metabolism) 27604308;19304569;30619714 False 2 0;100;0 8.110 False ENSG00000159650 ENSG00000159650 HGNC:26444 YME1L1 gene YME1L1 Expert list;Expert Review Amber Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Optic atrophy 11, 617302 27495975 False 2 0;0;0 8.110 False ENSG00000136758 ENSG00000136758 HGNC:12843 DMPK_CTG str DMPK NHS GMS;Expert Review Green;Expert list Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 1, OMIM:160900 False 3 100;0;0 8.110 False ENSG00000104936 ENSG00000104936 HGNC:2933 19 46273463 46273522 45770205 45770264 CTG 35 50 FXN_GAA str FXN NHS GMS;Expert Review Green;Expert list Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia OMIM:229300;Friedreich ataxia with retained reflexes OMIM:229300;Friedreich ataxia 1 MONDO:0100340 False 3 100;0;0 8.110 False ENSG00000165060 ENSG00000165060 HGNC:3951 9 71652203 71652220 69037287 69037304 GAA 44 66 ISCA-37440-Loss region Expert Review Green Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal hyperphagia;lactic acidemia;mild/moderate mental retardation;Hypotonia-cystinuria syndrome (HCS);606407;failure to thrive;nephrolithiasis;rapid weight gain in late childhood;minor facial dysmorphism;growth hormone deficiency;facial dysmorphism;respiratory chain complex IV deficiency;cystinuria;neonatal seizures;2p21 deletion syndrome;hypotonia;severe somatic and developmental delay 18234729;11524703;16385448 False 3 0;0;0 8.110 False 2 44183133 44362502 30 60 cnv_loss 2p21 region (includes PREPL and SLC3A1) Loss