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;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders 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 1.645 False ENSG00000118777 ENSG00000118777 HGNC:74 ALG2 gene ALG2 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mannosyltransferase 2 deficiency (Disorders of protein N-glycosylation);?Congenital disorder of glycosylation, type Ii 607906; Myasthenic syndrome, congenital, 14, with tubular aggregates 616228 27604308 False 1 0;0;100 1.645 False ENSG00000119523 ENSG00000119523 HGNC:23159 AMPD1 gene AMPD1 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Myoadenylate deaminase deficiency (Disorders of purine metabolism);Myopathy due to myoadenylate deaminase deficiency 615511 27604308 False 1 50;0;50 1.645 False ENSG00000116748 ENSG00000116748 HGNC:468 AOX1 gene AOX1 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown Xanthinuria type II (Disorders of purine metabolism) 27604308 False 1 0;0;100 1.645 False ENSG00000138356 ENSG00000138356 HGNC:553 ARSG gene ARSG UKGTN Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type IV 618144 20679209;25452429;26975023;29300381;22689975 False 1 0;0;100 1.645 False ENSG00000141337 ENSG00000141337 HGNC:24102 ATXN7 gene ATXN7 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Other Spinocerebellar ataxia 7, OMIM:164500 27604308 False 1 0;0;100 1.645 False ENSG00000163635 ENSG00000163635 HGNC:10560 BCAT1 gene BCAT1 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) 27604308 False 1 0;0;100 1.645 False ENSG00000060982 ENSG00000060982 HGNC:976 BCAT2 gene BCAT2 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown Branched-chain amino acid transferase (Disorder of branched-chain amino acid metabolism not classified as organic aciduria) 27604308 False 1 50;0;50 1.645 False ENSG00000105552 ENSG00000105552 HGNC:977 C1GALT1C1 gene C1GALT1C1 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Other - please specifiy in evaluation comments "Tn polyagglutination syndrome, somatic 300622" 27604308 False 1 0;0;0 1.645 False ENSG00000171155 ENSG00000171155 HGNC:24338 CD320 gene CD320 Emory Genetics Laboratory;Expert Review Red;Literature;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown "Methylmalonic aciduria due to transcobalamin receptor defect 613646;Methylmalonic aciduria, transient, due to transcobalamin receptor defect 613646" 27604308;20524213 False 1 0;0;0 1.645 False ENSG00000167775 ENSG00000167775 HGNC:16692 CETP gene CETP Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial hyperalphalipoproteinaemia (Disorders of high density lipoprotein metabolism); Hyperalphalipoproteinemia 143470; [High density lipoprotein cholesterol level QTL 10] 143470 27604308 False 1 0;0;100 1.645 False ENSG00000087237 ENSG00000087237 HGNC:1869 CLPS gene CLPS Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown Pancreatic colipase deficiency (Other disorders of lipid and lipoprotein metabolism) 27604308 False 1 0;0;100 1.645 False ENSG00000137392 ENSG00000137392 HGNC:2085 CNDP1 gene CNDP1 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown Carnosinaemia (Other disorders of peptide metabolism) 27604308 False 1 0;0;100 1.645 False ENSG00000150656 ENSG00000150656 HGNC:20675 COA5 gene COA5 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 616500 27604308;21457908 False 1 0;0;100 1.645 False ENSG00000183513 ENSG00000183513 HGNC:33848 COX8A gene COX8A Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex IV deficiency 220110 26685157 False 1 0;0;100 1.645 False ENSG00000176340 ENSG00000176340 HGNC:2294 CYP7A1 gene CYP7A1 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders 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 1.645 False ENSG00000167910 ENSG00000167910 HGNC:2651 DHFR2 gene DHFR2 UKGTN Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown 21876184 False 1 0;0;100 1.645 False ENSG00000178700 ENSG00000178700 HGNC:27309 DLST gene DLST Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown 27604308;12805207;1943690 False 1 0;0;100 1.645 False ENSG00000119689 ENSG00000119689 HGNC:2911 DMGDH gene DMGDH Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown Dimethylglycinuria (Disorders and variants of enzymes that oxidise xenobiotics other than cytochrome P450);Dimethylglycine dehydrogenase deficiency 605850 11231903 - case study;27604308;18937046 - functional study expressing the variant form in E.coli showed a decrease in activity False 1 0;0;100 1.645 False ENSG00000132837 ENSG00000132837 HGNC:24475 DPEP1 gene DPEP1 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown Cysteinylglycinase deficiency (Disorders of the gamma-glutamyl cycle) 27604308 False 1 0;0;100 1.645 False ENSG00000015413 ENSG00000015413 HGNC:3002 EGF gene EGF Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesaemia type 4, renal (Disorder of magnesium metabolism) 27604308 False 1 0;0;100 1.645 False ENSG00000138798 ENSG00000138798 HGNC:3229 FOLR2 gene FOLR2 UKGTN Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown 14711912; 19587340 False 1 0;0;100 1.645 False ENSG00000165457 ENSG00000165457 HGNC:3793 FOLR3 gene FOLR3 UKGTN Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown 8110752 False 1 0;0;100 1.645 False ENSG00000110203 ENSG00000110203 HGNC:3795 FXYD2 gene FXYD2 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypomagnesaemia type 2, renal (Disorder of magnesium metabolism);Hypomagnesemia 2, renal 154020 27604308 False 1 0;0;100 1.645 False ENSG00000137731 ENSG00000137731 HGNC:4026 GALNT12 gene GALNT12 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies);{Colorectal cancer, susceptibility to, 1} 608812; (GALNT12-CDG (Disorders of protein O-glycosylation, O-N-acetylgalactosaminylglycan synthesis deficiencies)) 27604308 False 1 0;0;100 1.645 False ENSG00000119514 ENSG00000119514 HGNC:19877 GCSH gene GCSH Expert Review Red;Literature;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Glycine encephalopathy 605899;Glycine encephalopathy 605899; Atypical glycine encephalopathy;Infantile glycine encephalopathy;Neonatal glycine encephalopathy;transient neonatal hyperglycinemia" 27604308;16450403 False 1 0;0;100 1.645 False ENSG00000140905 ENSG00000140905 HGNC:4208 GGT1 gene GGT1 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown Glutathionuria (Disorders of the gamma-glutamyl cycle);Gamma-glutamyl transpeptidase deficiency 27604308;24816252 False 1 0;0;100 1.645 False ENSG00000100031 ENSG00000100031 HGNC:4250 HAL gene HAL Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Histidinaemia (Disorders of histidine, tryptophan or lysine metabolism) 27604308 False 1 0;0;100 1.645 False ENSG00000084110 ENSG00000084110 HGNC:4806 HYKK gene HYKK Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism) 27604308 False 1 0;0;100 1.645 False ENSG00000188266 ENSG00000188266 HGNC:34403 KHK gene KHK Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Essential fructosuria (Disorders of fructose metabolism) 27604308 False 1 0;0;100 1.645 False ENSG00000138030 ENSG00000138030 HGNC:6315 LFNG gene LFNG Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal O-fucose-specific beta-1,3-N-acetylglucosaminyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);LFNG-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies);?Spondylocostal dysostosis 3, autosomal recessive, 609813 27604308 False 1 0;0;100 1.645 False ENSG00000106003 ENSG00000106003 HGNC:6560 LIPI gene LIPI Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial hypertriglyceridaemia (Inherited hypertriglyceridaemias);{Hypertriglyceridemia, susceptibility to}, 145750 27604308 False 1 0;0;100 1.645 False ENSG00000188992 ENSG00000188992 HGNC:18821 MRPL12 gene MRPL12 Expert list Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Multiple respiratory chain complex deficiencies (disorders of protein synthesis) 23603806 False 1 0;0;100 1.645 False ENSG00000262814 ENSG00000262814 HGNC:10378 MTHFD1 gene MTHFD1 Expert Review Red;UKGTN Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal {Spina bifida, folate-sensitive, susceptibility to} 601634 AR; {Abruptio placentae, susceptibility to} False 1 0;0;100 1.645 False ENSG00000100714 ENSG00000100714 HGNC:7432 NAT8L gene NAT8L Expert Review Red;UKGTN Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal ?N-acetylaspartate deficiency 614063 19807691 False 1 0;0;100 1.645 False ENSG00000185818 ENSG00000185818 HGNC:26742 NDUFA9 gene NDUFA9 Expert Review Red;Literature;Radboud University Medical Center, Nijmegen Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders 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 27604308 False 1 0;0;100 1.645 False ENSG00000139180 ENSG00000139180 HGNC:7693 NT5C gene NT5C Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown Pyrimidine - 5 - nucleotidase deficiency (Disorders of pyrimidine metabolism) 27604308 False 1 0;0;100 1.645 False ENSG00000125458 ENSG00000125458 HGNC:17144 NUP62 gene NUP62 Expert Review Red;Literature;Radboud University Medical Center, Nijmegen Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Infantile striatal necrosis (Other metabolic disorders);Striatonigral degeneration, infantile, 271930 27604308 False 1 0;0;100 1.645 False ENSG00000213024 ENSG00000213024 HGNC:8066 PDK1 gene PDK1 Expert Review Red;Literature;Radboud University Medical Center, Nijmegen Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 0;0;100 1.645 False ENSG00000152256 ENSG00000152256 HGNC:8809 PDK2 gene PDK2 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 0;0;100 1.645 False ENSG00000005882 ENSG00000005882 HGNC:8810 PDK4 gene PDK4 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown Pyruvate dehydrogenase kinase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 0;0;100 1.645 False ENSG00000004799 ENSG00000004799 HGNC:8812 PDP2 gene PDP2 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) 27604308 False 1 0;0;100 1.645 False ENSG00000172840 ENSG00000172840 HGNC:30263 PDPR gene PDPR Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown Pyruvate dehydrogenase phosphatase deficiency (Disorders of pyruvate metabolism) 27604308;25558065 False 1 0;0;100 1.645 False ENSG00000090857 ENSG00000090857 HGNC:30264 PDXK gene PDXK Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown Pryridoxal kinase deficiency (Disorders of pyridoxine metabolism) 27604308 False 1 0;0;100 1.645 False ENSG00000160209 ENSG00000160209 HGNC:8819 PEX11A gene PEX11A Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown Zellweger syndrome;peroxisome proliferation;mild peroxisomal biogenesis defect 25177298;10716247;11839773;25608554 False 1 0;0;100 1.645 False ENSG00000166821 ENSG00000166821 HGNC:8852 PHKG1 gene PHKG1 Expert Review Red;UKGTN Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown False 1 0;0;100 1.645 False ENSG00000164776 ENSG00000164776 HGNC:8930 PHYKPL gene PHYKPL Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hydroxylysinuria (Disorders of histidine, tryptophan or lysine metabolism);[?Phosphohydroxylysinuria] 615011 27604308 False 1 0;0;100 1.645 False ENSG00000175309 ENSG00000175309 HGNC:28249 PNLIP gene PNLIP Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders 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 1.645 False ENSG00000175535 ENSG00000175535 HGNC:9155 PPM1B gene PPM1B Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia-cystinuria syndrome (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) 27604308;11524703;15913950 False 1 0;0;100 1.645 False ENSG00000138032 ENSG00000138032 HGNC:9276 PPM1K gene PPM1K Expert Review Red;UKGTN Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown ?Maple syrup urine disease, mild variant 615135 False 1 0;0;100 1.645 False ENSG00000163644 ENSG00000163644 HGNC:25415 PREPL gene PREPL Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Hypotonia-cystinuria syndrome (Disorders of amino acid transport);Hypotonia-cystinuria syndrome 606407 27604308 False 1 0;0;100 1.645 False ENSG00000138078 ENSG00000138078 HGNC:30228 PTPRZ1 gene PTPRZ1 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown Hyperlysinaemia (Disorders of histidine, tryptophan or lysine metabolism);{H. pylori infection, susceptibility to} 600263 27604308 False 1 0;0;100 1.645 False ENSG00000106278 ENSG00000106278 HGNC:9685 RNASEH2A gene RNASEH2A Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS4;Inherited white matter disorders;Intellectual disability;Intracerebral calcification disorders 27604308 False 1 0;0;0 1.645 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, OMIM:610181 27604308 False 1 0;0;0 1.645 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal (Disorders of nucleotide metabolism, Aicardi-Gouti res Syndrome) AGS3;Inherited white matter disorders;Intellectual disability;Intracerebral calcification disorders 27604308 False 1 0;0;0 1.645 False ENSG00000172922 ENSG00000172922 HGNC:24116 SARDH gene SARDH Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Sarcosinaemia (Disorders of serine, glycine or glycerate metabolism);[Sarcosinemia] 268900 27604308 False 1 0;0;100 1.645 False ENSG00000123453 ENSG00000123453 HGNC:10536 SCARB1 gene SCARB1 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Scavenger receptor class B type I deficiency (Inherited hypolipidaemias);[High density lipoprotein cholesterol level QTL6] 610762 27604308 False 1 0;0;100 1.645 False ENSG00000073060 ENSG00000073060 HGNC:1664 SHPK gene SHPK Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Sedoheptulokinase deficiency (Other metabolic disorders);[Sedoheptulokinase deficiency] 617213 27604308 False 1 0;0;100 1.645 False ENSG00000197417 ENSG00000197417 HGNC:1492 SLC22A4 gene SLC22A4 Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown " {Rheumatoid arthritis, susceptibility to} 180300" 24816252 False 1 0;0;100 1.645 False ENSG00000197208 ENSG00000197208 HGNC:10968 SLC25A2 gene SLC25A2 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown Riboflavin transporter deficiency (Disorders of riboflavin transport and metabolism) 27604308 False 1 0;0;100 1.645 False ENSG00000120329 ENSG00000120329 HGNC:22921 SLC27A5 gene SLC27A5 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Bile acid CoA ligase deficiency (Disorders of bile acid biosynthesis) 27604308 False 1 0;0;100 1.645 False ENSG00000083807 ENSG00000083807 HGNC:10999 SLC36A2 gene SLC36A2 Expert Review Red;Literature;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hyperglycinuria 138500 AD; Iminoglycinuria, digenic 242600 AR;Hyperglycinuria 138500; Iminoglycinuria, digenic 242600" 27604308;19033659 False 1 0;0;0 1.645 False ENSG00000186335 ENSG00000186335 HGNC:18762 SLC52A1 gene SLC52A1 Expert Review Red;UKGTN Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Riboflavin deficiency 615026 21089064 False 1 0;0;100 1.645 False ENSG00000132517 ENSG00000132517 HGNC:30225 SLC6A20 gene SLC6A20 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hyperglycinuria 138500;Iminoglycinuria, digenic 242600" 24816252;19033659 False 1 0;0;100 1.645 False ENSG00000163817 ENSG00000163817 HGNC:30927 SLCO1B1 gene SLCO1B1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Hyperbilirubinemia, Rotor type, digenic 237450" 24816252; 22232210 False 1 0;0;100 1.645 False ENSG00000134538 ENSG00000134538 HGNC:10959 SLCO1B3 gene SLCO1B3 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Hyperbilirubinemia, Rotor type, digenic 237450" 22232210 False 1 0;0;100 1.645 False ENSG00000111700 ENSG00000111700 HGNC:10961 SUCLG2 gene SUCLG2 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown Succinyl-CoA synthetase deficiency (Other metabolic disorders) 27604308 False 1 0;0;100 1.645 False ENSG00000172340 ENSG00000172340 HGNC:11450 SUGCT gene SUGCT Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glutaric aciduria type III (Organic acidurias);Glutaric aciduria type III 231690 27604308 False 1 0;0;100 1.645 False ENSG00000175600 ENSG00000175600 HGNC:16001 TCN1 gene TCN1 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Haptocorrin deficiency (Disorders of cobalamin absorption, transport and metabolism);No OMIM number 27604308 False 1 0;0;100 1.645 False ENSG00000134827 ENSG00000134827 HGNC:11652 TDO2 gene TDO2 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown Tryptophanaemia (Disorders of histidine, tryptophan or lysine metabolism);No OMIM number 27604308 False 1 0;0;100 1.645 False ENSG00000151790 ENSG00000151790 HGNC:11708 TM6SF2 gene TM6SF2 Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown non-alcoholic fatty liver disease 28235613 False 1 0;0;100 1.645 False ENSG00000213996 ENSG00000213996 HGNC:11861 TMEM126A gene TMEM126A Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Optic atrophy 7 612989 27604308;31119195 False 1 0;0;100 1.645 False ENSG00000171202 ENSG00000171202 HGNC:25382 TPMT gene TPMT Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Thiopurine S-methyltransferase deficiency (Disorders of purine metabolism);{Thiopurines, poor metabolism of, 1} 610460 27604308 False 1 0;0;100 1.645 False ENSG00000137364 ENSG00000137364 HGNC:12014 TREH gene TREH Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown Trehalase deficiency (Other carbohydrate disorders) 27604308 False 1 0;0;100 1.645 False ENSG00000118094 ENSG00000118094 HGNC:12266 UPB1 gene UPB1 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Beta-ureidopropionase deficiency (Disorders of pyrimidine metabolism);Beta-ureidopropionase deficiency 613161 27604308 False 1 50;0;50 1.645 False ENSG00000100024 ENSG00000100024 HGNC:16297 USF1 gene USF1 Expert Review Red;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders Unknown Familial combined hyperlipoproteinaemia (Inherited mixed hyperlipidaemias) 27604308 False 1 0;0;100 1.645 False ENSG00000158773 ENSG00000158773 HGNC:12593 GLS_GCA str GLS Literature;Expert Review Red Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 30970188 False 1 100;0;0 1.645 False ENSG00000115419 ENSG00000115419 HGNC:4331 2 191745599 191745646 190880873 190880920 GCA 50 400