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 ABCG2 gene ABCG2 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic Unknown Primary idiopathic gout (Disorders of purine metabolism);[Junior blood group system] 614490;[Uric acid concentration, serum, QTL1] 138900 27604308 False 1 0;0;100 8.110 False ENSG00000118777 ENSG00000118777 HGNC:74 ACAT2 gene ACAT2 Expert Review Red;Literature Likely inborn error of metabolism Metabolic Unknown ?ACAT2 deficiency, OMIM:614055;Increased serum lactate and pyruvate;High levels of ketones;Low levels of cytosolic acetoacetyl-CoA thiolase;Hypotonia;Severe developmental delay 33340416;20597;6150136 False 1 0;100;0 8.110 False ENSG00000120437 ENSG00000120437 HGNC:94 ALDH1B1 gene ALDH1B1 Expert Review Red Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype;Succinic semialdehyde dehydrogenase deficiency False 1 0;100;0 8.110 False ENSG00000137124 ENSG00000137124 HGNC:407 ALG10 gene ALG10 Expert Review Red;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Progressive myoclonus epilepsy;CDG 33798445 False 1 0;0;100 8.110 False ENSG00000139133 ENSG00000139133 HGNC:23162 AMPD1 gene AMPD1 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Myoadenylate deaminase deficiency (Disorders of purine metabolism);Myopathy due to myoadenylate deaminase deficiency 615511 27604308 False 1 50;0;50 8.110 False ENSG00000116748 ENSG00000116748 HGNC:468 AOX1 gene AOX1 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic Unknown Xanthinuria type II (Disorders of purine metabolism) 27604308 False 1 0;0;100 8.110 False ENSG00000138356 ENSG00000138356 HGNC:553 ATAD3B gene ATAD3B Expert Review Red Likely inborn error of metabolism Metabolic Unknown Influence on AIDS progression;No OMIM phenotype False 1 0;100;0 8.110 False ENSG00000160072 ENSG00000160072 HGNC:24007 ATP5C1 gene ATP5C1 Expert Review Red Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype False 1 0;100;0 8.110 False ENSG00000165629 ENSG00000165629 HGNC:833 ATP5G1 gene ATP5G1 Expert Review Red Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype False 1 0;100;0 8.110 False ENSG00000159199 ENSG00000159199 HGNC:841 ATP5G2 gene ATP5G2 Expert Review Red Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype False 1 0;100;0 8.110 False ENSG00000135390 ENSG00000135390 HGNC:842 ATP5I gene ATP5I Expert Review Red Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype False 1 0;100;0 8.110 False ENSG00000169020 ENSG00000169020 HGNC:846 ATP5J gene ATP5J Expert Review Red Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype False 1 0;100;0 8.110 False ENSG00000154723 ENSG00000154723 HGNC:847 ATXN7 gene ATXN7 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic Other Spinocerebellar ataxia 7, OMIM:164500;Mitochondrial respiratory chain disorders (caused by nuclear variants only) 27604308 False 1 0;0;100 8.110 False ENSG00000163635 ENSG00000163635 HGNC:10560 BCAT1 gene BCAT1 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic Unknown Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) 27604308 False 1 0;0;100 8.110 False ENSG00000060982 ENSG00000060982 HGNC:976 BOLA1 gene BOLA1 Expert Review Red Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype False 1 0;100;0 8.110 False ENSG00000178096 ENSG00000178096 HGNC:24263 BOLA2 gene BOLA2 Expert Review Red Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype False 1 0;100;0 8.110 False ENSG00000183336 ENSG00000183336 HGNC:29488 C1GALT1C1 gene C1GALT1C1 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic Other - please specify in evaluation comments COSMC-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies);Tn polyagglutination syndrome, somatic;Tn polyagglutination syndrome, somatic 300622 27604308;19778426;27536663 False 1 0;0;0 8.110 False ENSG00000171155 ENSG00000171155 HGNC:24338 CAD gene CAD Expert Review Red Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Iz 616457 False 1 0;0;0 8.110 False ENSG00000084774 ENSG00000084774 HGNC:1424 CAMLG gene CAMLG Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIz, OMIM:620201 35262690 False 1 0;0;100 8.110 False ENSG00000164615 ENSG00000164615 HGNC:1471 CEP89 gene CEP89 Expert Review Red Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal isolated complex IV deficiency, intellectual disability and multisystemic problems PMID: 23575228 False 1 50;0;50 8.110 False ENSG00000121289 ENSG00000121289 HGNC:25907 CETP gene CETP Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted [High density lipoprotein cholesterol level QTL 10] 143470;Familial hyperalphalipoproteinaemia (Disorders of high density lipoprotein metabolism);Hyperalphalipoproteinemia 143470 27604308 False 1 0;0;100 8.110 False ENSG00000087237 ENSG00000087237 HGNC:1869 CLCN6 gene CLCN6 Expert Review Red;Other Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodegeneration, childhood-onset, hypotonia, respiratory insufficiency and brain imaging abnormalities OMIM:619173 29667327;26658788;25794116;21107136;33217309;16950870 False 1 0;0;100 8.110 False ENSG00000011021 ENSG00000011021 HGNC:2024 CLPS gene CLPS Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic Unknown Pancreatic colipase deficiency (Other disorders of lipid and lipoprotein metabolism) 27604308 False 1 0;0;100 8.110 False ENSG00000137392 ENSG00000137392 HGNC:2085 CNDP1 gene CNDP1 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic Unknown Carnosinaemia (Other disorders of peptide metabolism) 27604308 False 1 0;0;100 8.110 False ENSG00000150656 ENSG00000150656 HGNC:20675 COA1 gene COA1 Expert Review Red Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype False 1 0;100;0 8.110 False ENSG00000106603 ENSG00000106603 HGNC:21868 COA5 gene COA5 Expert Review Red;London North GLH;NHS GMS;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 27604308;21457908 False 1 50;50;0 8.110 False ENSG00000183513 ENSG00000183513 HGNC:33848 COG2 gene COG2 Expert Review Red Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type IIq, 617395 11980916;24784932 False 1 0;0;0 8.110 False ENSG00000135775 ENSG00000135775 HGNC:6546 COX5B gene COX5B Expert Review Red Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype False 1 0;100;0 8.110 False ENSG00000135940 ENSG00000135940 HGNC:2269 COX6C gene COX6C Expert Review Red Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype False 1 0;100;0 8.110 False ENSG00000164919 ENSG00000164919 HGNC:2285 COX7A1 gene COX7A1 Expert Review Red Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype False 1 0;100;0 8.110 False ENSG00000161281 ENSG00000161281 HGNC:2287 COX7A2 gene COX7A2 Expert Review Red Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype False 1 0;100;0 8.110 False ENSG00000112695 ENSG00000112695 HGNC:2288 COX7B2 gene COX7B2 Expert Review Red Likely inborn error of metabolism Metabolic Unknown ?{Nasopharyngeal carcinoma, susceptibility to}, 607107 False 1 0;100;0 8.110 False ENSG00000170516 ENSG00000170516 HGNC:24381 COX7C gene COX7C Expert Review Red Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype False 1 0;100;0 8.110 False ENSG00000127184 ENSG00000127184 HGNC:2292 COX8A gene COX8A Expert Review Red Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency 220110 PMID: 26685157 False 1 100;0;0 8.110 False ENSG00000176340 ENSG00000176340 HGNC:2294 CYP7A1 gene CYP7A1 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Cholesterol 7-alpha-hydroxylase deficiency (Disorders of bile acid biosynthesis);Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 27604308 False 1 0;0;100 8.110 False ENSG00000167910 ENSG00000167910 HGNC:2651 DHFR2 gene DHFR2 Expert Review Red Likely inborn error of metabolism Metabolic Unknown 21876184 False 1 0;0;100 8.110 False ENSG00000178700 ENSG00000178700 HGNC:27309 DLST gene DLST Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype?Familial Alzheimer disease 27604308;12805207;1943690 False 1 0;50;50 8.110 False ENSG00000119689 ENSG00000119689 HGNC:2911 DMGDH gene DMGDH Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic Unknown Dimethylglycine dehydrogenase deficiency 605850;Dimethylglycinuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450) 27604308;18937046 - functional study expressing the variant form in E.coli showed a decrease in activity;11231903 - case study False 1 0;0;100 8.110 False ENSG00000132837 ENSG00000132837 HGNC:24475 DPEP1 gene DPEP1 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic Unknown Cysteinylglycinase deficiency (Disorders of the gamma-glutamyl cycle) 27604308 False 1 0;0;100 8.110 False ENSG00000015413 ENSG00000015413 HGNC:3002 DTD1 gene DTD1 Expert Review Red Likely inborn error of metabolism Metabolic Unknown False 1 0;0;0 8.110 False ENSG00000125821 ENSG00000125821 HGNC:16219 ECSIT gene ECSIT Expert Review Red Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 8.110 False ENSG00000130159 ENSG00000130159 HGNC:29548 EGF gene EGF Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hypomagnesaemia type 4, renal (Disorder of magnesium metabolism) 27604308 False 1 0;0;100 8.110 False ENSG00000138798 ENSG00000138798 HGNC:3229 ERCC6L2 gene ERCC6L2 Expert Review Red Likely inborn error of metabolism Metabolic Unknown False 1 0;0;0 8.110 False ENSG00000182150 ENSG00000182150 HGNC:26922 FAR1 gene FAR1 Expert Review Red Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154 25439727;30561787;33239752 False 1 0;0;100 8.110 False ENSG00000197601 ENSG00000197601 HGNC:26222 FBP2 gene FBP2 Expert Review Red Likely inborn error of metabolism Metabolic Unknown isolated lactic acidosis False 1 0;0;0 8.110 False ENSG00000130957 ENSG00000130957 HGNC:3607 FOLR2 gene FOLR2 Expert Review Red Likely inborn error of metabolism Metabolic Unknown 14711912;19587340 False 1 0;0;100 8.110 False ENSG00000165457 ENSG00000165457 HGNC:3793 FOLR3 gene FOLR3 Expert Review Red Likely inborn error of metabolism Metabolic Unknown 8110752 False 1 0;0;100 8.110 False ENSG00000110203 ENSG00000110203 HGNC:3795 FXYD2 gene FXYD2 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypomagnesemia 2, renal 154020;Hypomagnesaemia type 2, renal (Disorder of magnesium metabolism) 27604308 False 1 0;0;100 8.110 False ENSG00000137731 ENSG00000137731 HGNC:4026 GALNT12 gene GALNT12 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted (GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies));GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies);{Colorectal cancer, susceptibility to, 1} 608812 27604308 False 1 0;0;100 8.110 False ENSG00000119514 ENSG00000119514 HGNC:19877 GATB gene GATB Expert Review Red Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Combined oxidative phosphorylation deficiency 41, OMIM:618838 False 1 0;0;100 8.110 False ENSG00000059691 ENSG00000059691 HGNC:8849 GGT1 gene GGT1 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic Unknown Gamma-glutamyl transpeptidase deficiency;Glutathionuria (Disorders of the gamma-glutamyl cycle) 27604308;24816252 False 1 0;0;100 8.110 False ENSG00000100031 ENSG00000100031 HGNC:4250 HAL gene HAL Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Histidinaemia (Disorders of histidine, tryptophan or lysine metabolism) 27604308 False 1 0;0;100 8.110 False ENSG00000084110 ENSG00000084110 HGNC:4806 HYKK gene HYKK Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic Unknown Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism) 27604308 False 1 0;0;100 8.110 False ENSG00000188266 ENSG00000188266 HGNC:34403 IDH3B gene IDH3B Expert Review Red Likely inborn error of metabolism Metabolic Unknown False 1 0;100;0 8.110 False ENSG00000101365 ENSG00000101365 HGNC:5385 KCTD7 gene KCTD7 Other Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 3, with or without intracellular inclusions OMIM:611726;progressive myoclonic epilepsy type 3 MONDO:0012721 False 1 0;0;100 8.110 False ENSG00000243335 ENSG00000243335 HGNC:21957 KHK gene KHK Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Essential fructosuria (Disorders of fructose metabolism) 27604308 False 1 0;0;100 8.110 False ENSG00000138030 ENSG00000138030 HGNC:6315 LACTB gene LACTB Expert Review Red Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype False 1 0;100;0 8.110 False ENSG00000103642 ENSG00000103642 HGNC:16468 LIPI gene LIPI Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Hypertriglyceridemia, susceptibility to}, 145750;Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias) 27604308 False 1 0;0;100 8.110 False ENSG00000188992 ENSG00000188992 HGNC:18821 MRPL12 gene MRPL12 Expert list;Expert Review Red Likely inborn error of metabolism Metabolic Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis);No OMIM phenotype False 1 33;0;67 8.110 False ENSG00000262814 ENSG00000262814 HGNC:10378 MRPL40 gene MRPL40 Expert Review Red Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype False 1 0;50;50 8.110 False ENSG00000185608 ENSG00000185608 HGNC:14491 MRPS23 gene MRPS23 Expert Review Red Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal hepatic disease and combined respiratory chain complex deficiencies PMID: 26741492 False 1 50;0;50 8.110 False ENSG00000181610 ENSG00000181610 HGNC:14509 MTHFD1 gene MTHFD1 Expert Review Red Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal {Abruptio placentae, susceptibility to};{Spina bifida, folate-sensitive, susceptibility to} 601634 AR False 1 0;0;100 8.110 False ENSG00000100714 ENSG00000100714 HGNC:7432 NAT8L gene NAT8L Expert Review Red Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?N-acetylaspartate deficiency 614063 19807691 False 1 0;0;100 8.110 False ENSG00000185818 ENSG00000185818 HGNC:26742 NDUFA3 gene NDUFA3 Expert Review Red Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Leigh syndrome 39661167 False 1 0;100;0 8.110 False ENSG00000170906 ENSG00000170906 HGNC:7686 NDUFA7 gene NDUFA7 Expert Review Red Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 8.110 False ENSG00000267855 ENSG00000267855 HGNC:7691 NDUFAB1 gene NDUFAB1 Expert Review Red Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 8.110 False ENSG00000004779 ENSG00000004779 HGNC:7694 NDUFB1 gene NDUFB1 Expert Review Red Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 8.110 False ENSG00000183648 ENSG00000183648 HGNC:7695 NDUFB2 gene NDUFB2 Expert Review Red Likely inborn error of metabolism Metabolic Unknown Isolated complex I deficiency False 1 0;100;0 8.110 False ENSG00000090266 ENSG00000090266 HGNC:7697 NDUFB4 gene NDUFB4 Expert Review Red Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 8.110 False ENSG00000065518 ENSG00000065518 HGNC:7699 NDUFB5 gene NDUFB5 Expert Review Red Likely inborn error of metabolism Metabolic Unknown Isolated complex I deficiency False 1 0;100;0 8.110 False ENSG00000136521 ENSG00000136521 HGNC:7700 NDUFB6 gene NDUFB6 Expert Review Red Likely inborn error of metabolism Metabolic Unknown Isolated complex I deficiency False 1 0;100;0 8.110 False ENSG00000165264 ENSG00000165264 HGNC:7701 NDUFC1 gene NDUFC1 Expert Review Red Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 8.110 False ENSG00000109390 ENSG00000109390 HGNC:7705 NDUFS5 gene NDUFS5 Expert Review Red Likely inborn error of metabolism Metabolic Unknown Mitochondrial Diseases;No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 8.110 False ENSG00000168653 ENSG00000168653 HGNC:7712 NDUFV3 gene NDUFV3 Expert Review Red Likely inborn error of metabolism Metabolic Unknown Mitochondrial Diseases;No OMIM phenotype;Isolated complex I deficiency False 1 0;100;0 8.110 False ENSG00000160194 ENSG00000160194 HGNC:7719 NT5C gene NT5C Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic Unknown Pyrimidine - 5 - nucleotidase deficiency (Disorders of pyrimidine metabolism) 27604308 False 1 0;0;100 8.110 False ENSG00000125458 ENSG00000125458 HGNC:17144 NUP62 gene NUP62 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Infantile striatal necrosis (Other metabolic disorders);Striatonigral degeneration, infantile, 271930 27604308 False 1 0;0;100 8.110 False ENSG00000213024 ENSG00000213024 HGNC:8066 OSTC gene OSTC Expert Review Red;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Oligosaccharyltransferase complex-congenital disorders of glycosylation 32267060 False 1 0;0;100 8.110 False ENSG00000198856 ENSG00000198856 HGNC:24448 OXA1L gene OXA1L Expert Review Red Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype False 1 0;100;0 8.110 False ENSG00000155463 ENSG00000155463 HGNC:8526 PCYT2 gene PCYT2 Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Global developmental delay;Developmental regression;Intellectual disability;Spastic paraparesis;Seizures;Spastic tetraparesis;Cerebral atrophy;Cerebellar atrophy 31637422;17325045;22764088 False 1 100;0;0 8.110 False ENSG00000185813 ENSG00000185813 HGNC:8756 PDK1 gene PDK1 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype;Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 50;0;50 8.110 False ENSG00000152256 ENSG00000152256 HGNC:8809 PDK2 gene PDK2 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype;Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 0;50;50 8.110 False ENSG00000005882 ENSG00000005882 HGNC:8810 PDK4 gene PDK4 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype;Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 0;50;50 8.110 False ENSG00000004799 ENSG00000004799 HGNC:8812 PDP2 gene PDP2 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 0;33;67 8.110 False ENSG00000172840 ENSG00000172840 HGNC:30263 PDPR gene PDPR Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic Unknown Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) 27604308;25558065 False 1 33;33;33 8.110 False ENSG00000090857 ENSG00000090857 HGNC:30264 PDXK gene PDXK Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic Unknown Pryridoxal kinase deficiency (Disorders of pyridoxine metabolism) 27604308 False 1 0;0;100 8.110 False ENSG00000160209 ENSG00000160209 HGNC:8819 PEX11A gene PEX11A Expert Review Red;Literature Likely inborn error of metabolism Metabolic Unknown Zellweger syndrome;peroxisome proliferation;mild peroxisomal biogenesis defect 25177298;10716247;25608554;11839773 False 1 0;0;100 8.110 False ENSG00000166821 ENSG00000166821 HGNC:8852 PHKG1 gene PHKG1 Expert Review Red Likely inborn error of metabolism Metabolic Unknown False 1 0;0;100 8.110 False ENSG00000164776 ENSG00000164776 HGNC:8930 PHYKPL gene PHYKPL Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism);[?Phosphohydroxylysinuria] 615011 27604308 False 1 0;0;100 8.110 False ENSG00000175309 ENSG00000175309 HGNC:28249 PNLIP gene PNLIP Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Pancreatic triacylglycerol lipase deficiency (Other disorders of lipid and lipoprotein metabolism);Pancreatic lipase deficiency 614338 27604308 False 1 0;0;100 8.110 False ENSG00000175535 ENSG00000175535 HGNC:9155 PNPLA4 gene PNPLA4 Expert Review Red Likely inborn error of metabolism Metabolic Unknown False 1 0;0;100 8.110 False ENSG00000006757 ENSG00000006757 HGNC:24887 POP1 gene POP1 Expert Review Red Likely inborn error of metabolism Metabolic Unknown False 1 0;100;0 8.110 False ENSG00000104356 ENSG00000104356 HGNC:30129 PPM1B gene PPM1B Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hypotonia-cystinuria syndrome (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308;15913950;11524703 False 1 0;0;100 8.110 False ENSG00000138032 ENSG00000138032 HGNC:9276 PPM1K gene PPM1K Expert Review Red Likely inborn error of metabolism Metabolic Unknown ?Maple syrup urine disease, mild variant 615135 False 1 0;0;100 8.110 False ENSG00000163644 ENSG00000163644 HGNC:25415 PREPL gene PREPL Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hypotonia-cystinuria syndrome 606407;Hypotonia-cystinuria syndrome (Disorders of amino acid transport) 27604308 False 1 0;0;100 8.110 False ENSG00000138078 ENSG00000138078 HGNC:30228 PTCD1 gene PTCD1 Expert Review Red Likely inborn error of metabolism Metabolic Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 1 0;100;0 8.110 False ENSG00000106246 ENSG00000106246 HGNC:22198 PTPRZ1 gene PTPRZ1 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic Unknown Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism);{H. pylori infection, susceptibility to} 600263 27604308 False 1 0;0;100 8.110 False ENSG00000106278 ENSG00000106278 HGNC:9685 ROBO3 gene ROBO3 Expert Review Red Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 16525029;15105459 False 1 67;0;33 8.110 False ENSG00000154134 ENSG00000154134 HGNC:13433 SARDH gene SARDH Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal [Sarcosinemia] 268900;Sarcosinaemia (Disorders of serine, glycine or glycerate metabolism) 27604308 False 1 0;0;100 8.110 False ENSG00000123453 ENSG00000123453 HGNC:10536 SCARB1 gene SCARB1 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal [High density lipoprotein cholesterol level QTL6] 610762;Scavenger receptor class B type I deficiency (Inherited hypolipidaemias) 27604308 False 1 0;0;100 8.110 False ENSG00000073060 ENSG00000073060 HGNC:1664 SHPK gene SHPK Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Sedoheptulokinase deficiency (Other metabolic disorders);[Sedoheptulokinase deficiency] 617213 27604308 False 1 0;0;100 8.110 False ENSG00000197417 ENSG00000197417 HGNC:1492 SLC22A4 gene SLC22A4 Expert Review Red Likely inborn error of metabolism Metabolic Unknown 24816252 False 1 0;0;100 8.110 False ENSG00000197208 ENSG00000197208 HGNC:10968 SLC25A2 gene SLC25A2 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic Unknown Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) 27604308 False 1 0;0;100 8.110 False ENSG00000120329 ENSG00000120329 HGNC:22921 SLC25A40 gene SLC25A40 Expert Review Red Likely inborn error of metabolism Metabolic Unknown False 1 0;100;0 8.110 False ENSG00000075303 ENSG00000075303 HGNC:29680 SLC26A6 gene SLC26A6 Literature Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Enteric hyperoxaluria and nephrolithiasis 35115415 False 1 0;0;0 8.110 False ENSG00000225697 ENSG00000225697 HGNC:14472 SLC27A5 gene SLC27A5 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Bile acid CoA ligase deficiency (Disorders of bile acid biosynthesis) 27604308 False 1 0;0;100 8.110 False ENSG00000083807 ENSG00000083807 HGNC:10999 SLC35A3 gene SLC35A3 Expert Review Red Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553 24031089 False 1 0;0;0 8.110 False ENSG00000117620 ENSG00000117620 HGNC:11023 SLC36A2 gene SLC36A2 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Iminoglycinuria, digenic 242600;Hyperglycinuria 138500;Hyperglycinuria AR 27604308;19033659 False 1 0;0;0 8.110 False ENSG00000186335 ENSG00000186335 HGNC:18762 SLC52A1 gene SLC52A1 Expert Review Red Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Riboflavin deficiency 615026 21089064 False 1 0;0;100 8.110 False ENSG00000132517 ENSG00000132517 HGNC:30225 SLC6A20 gene SLC6A20 Expert Review Red;NHS GMS Likely inborn error of metabolism Metabolic BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperglycinuria 24816252;19033659 False 1 0;0;100 8.110 False ENSG00000163817 ENSG00000163817 HGNC:30927 SLCO1B1 gene SLCO1B1 Expert Review Red Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hyperbilirubinemia, Rotor type, digenic 24816252;22232210 False 1 0;0;100 8.110 False ENSG00000134538 ENSG00000134538 HGNC:10959 SLCO1B3 gene SLCO1B3 Expert Review Red Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Hyperbilirubinemia, Rotor type, digenic 22232210 False 1 0;0;100 8.110 False ENSG00000111700 ENSG00000111700 HGNC:10961 SRRT gene SRRT Expert Review Red Likely inborn error of metabolism Metabolic Unknown Multiple respiratory chain complex deficiencies (disorders of protein synthesis) False 1 0;0;100 8.110 False ENSG00000087087 ENSG00000087087 HGNC:24101 STT3B gene STT3B Expert Review Red Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal ?Congenital disorder of glycosylation, type Ix 615597 False 1 0;0;0 8.110 False ENSG00000163527 ENSG00000163527 HGNC:30611 SUCLG2 gene SUCLG2 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic Unknown Succinyl-CoA synthetase deficiency (Other metabolic disorders);No OMIM phenotype 27604308 False 1 0;50;50 8.110 False ENSG00000172340 ENSG00000172340 HGNC:11450 SUGCT gene SUGCT Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Glutaric aciduria type III (Organic acidurias);Glutaric aciduria type III 231690 27604308 False 1 0;0;100 8.110 False ENSG00000175600 ENSG00000175600 HGNC:16001 TCN1 gene TCN1 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Haptocorrin deficiency (Disorders of cobalamin absorption, transport and metabolism);No OMIM number 27604308 False 1 0;0;100 8.110 False ENSG00000134827 ENSG00000134827 HGNC:11652 TDO2 gene TDO2 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic Unknown No OMIM number;Tryptophanaemia (Disorders of histidine, tryptophan or lysine metabolism) 27604308 False 1 0;0;100 8.110 False ENSG00000151790 ENSG00000151790 HGNC:11708 TIMM44 gene TIMM44 Expert Review Red Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype False 1 0;100;0 8.110 False ENSG00000104980 ENSG00000104980 HGNC:17316 TM6SF2 gene TM6SF2 Expert Review Red Likely inborn error of metabolism Metabolic MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown non-alcoholic fatty liver disease 28235613 False 1 0;0;100 8.110 False ENSG00000213996 ENSG00000213996 HGNC:11861 TMEM126A gene TMEM126A Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Optic atrophy 7 612989 27604308;31119195 False 1 50;0;50 8.110 False ENSG00000171202 ENSG00000171202 HGNC:25382 TPMT gene TPMT Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Thiopurine S-methyltransferase deficiency (Disorders of purine metabolism);{Thiopurines, poor metabolism of, 1} 610460 27604308 False 1 0;0;100 8.110 False ENSG00000137364 ENSG00000137364 HGNC:12014 TREH gene TREH Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic Unknown Trehalase deficiency (Other carbohydrate disorders) 27604308 False 1 0;0;100 8.110 False ENSG00000118094 ENSG00000118094 HGNC:12266 TXN2 gene TXN2 Expert Review Red Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal infantile-onset neurodegenerative disorder with severe cerebellar atrophy, epilepsy, dystonia, optic atrophy, and peripheral neuropathy;?Combined oxidative phosphorylation deficiency 29 PMID: 26626369 False 1 100;0;0 8.110 False ENSG00000100348 ENSG00000100348 HGNC:17772 UQCRH gene UQCRH Expert Review Red Likely inborn error of metabolism Metabolic Unknown No OMIM phenotype False 1 0;100;0 8.110 False ENSG00000173660 ENSG00000173660 HGNC:12590 USF1 gene USF1 Expert Review Red;London North GLH;NHS GMS Likely inborn error of metabolism Metabolic Unknown Familial combined hyperlipoproteinaemia (Inherited mixed hyperlipidaemias) 27604308 False 1 0;0;100 8.110 False ENSG00000158773 ENSG00000158773 HGNC:12593 VPS13C gene VPS13C Expert Review Red;Victorian Clinical Genetics Services Likely inborn error of metabolism Metabolic Unknown False 1 33;0;67 8.110 False ENSG00000129003 ENSG00000129003 HGNC:23594 GLS_GCA str GLS Expert Review Red;Literature Likely inborn error of metabolism Metabolic BIALLELIC, autosomal or pseudoautosomal Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 30970188 False 1 100;0;0 8.110 False ENSG00000115419 ENSG00000115419 HGNC:4331 2 191745599 191745646 190880873 190880920 GCA 50 400