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 ALG13 gene ALG13 Expert Review Amber;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) ALG13-CDG (Disorders of protein N-glycosylation);Epileptic encephalopathy;Intellectual disability 27604308 False 2 0;0;0 1.645 False ENSG00000101901 ENSG00000101901 HGNC:30881 COX4I2 gene COX4I2 Expert Review Amber;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis 612714 27604308;19268275;22592081 False 2 0;0;100 1.645 False ENSG00000131055 ENSG00000131055 HGNC:16232 CSTB gene CSTB Expert Review Amber;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 27604308 False 2 0;0;0 1.645 False ENSG00000160213 ENSG00000160213 HGNC:2482 DHDDS gene DHDDS Expert Review Amber;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 59, OMIM:613861;?Congenital disorder of glycosylation, type 1bb, OMIM:613861 27604308 False 2 0;0;0 1.645 False ENSG00000117682 ENSG00000117682 HGNC:20603 GLS gene GLS Expert Review Amber;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders 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 30970188;30575854;30239721 False 2 67;0;33 1.645 False ENSG00000115419 ENSG00000115419 HGNC:4331 HSPA9 gene HSPA9 Expert Review Amber;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Even-plus syndrome 616854 26598328 False 2 0;100;0 1.645 False ENSG00000113013 ENSG00000113013 HGNC:5244 LIPC gene LIPC Expert Review Amber;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders 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 1.645 False ENSG00000166035 ENSG00000166035 HGNC:6619 MRPS16 gene MRPS16 Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 2 610498 27604308;28749478;15505824;21169334 False 2 0;0;100 1.645 False ENSG00000182180 ENSG00000182180 HGNC:14048 NDUFB9 gene NDUFB9 Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal ?Mitochondrial complex I deficiency, nuclear type 24 618245 27604308;22200994 False 2 0;0;0 1.645 False ENSG00000147684 ENSG00000147684 HGNC:7704 OPLAH gene OPLAH Expert Review Amber;Literature;Radboud University Medical Center, Nijmegen Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal 5-oxoprolinase deficiency 260005 27604308;21651516;23430506;27477828 False 2 0;0;0 1.645 False ENSG00000178814 ENSG00000178814 HGNC:8149 PDK3 gene PDK3 Expert Review Amber;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders 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 27604308;26801680;28902413;23297365 False 2 0;0;100 1.645 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 PSPH gene PSPH Expert Review Amber;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Phosphoserine phosphatase deficiency 614023 27604308;24816252 False 2 0;0;0 1.645 False ENSG00000146733 ENSG00000146733 HGNC:9577 RANBP2 gene RANBP2 Expert Review Amber;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acute necrotizing encephalopathy (Other metabolic disorders) 27604308 False 2 100;0;0 1.645 False ENSG00000153201 ENSG00000153201 HGNC:9848 RNASET2 gene RNASET2 Expert Review Amber;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal RNASET2-deficient cystic leukoencephalopathy (Disorders of nucleotide metabolism);Inherited white matter disorders;Intellectual disability 27604308 False 2 0;0;0 1.645 False ENSG00000026297 ENSG00000026297 HGNC:21686 RYR1 gene RYR1 Expert Review Amber Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Rhabdomyolysis and metabolic muscle disorders False 2 0;100;0 1.645 False ENSG00000196218 ENSG00000196218 HGNC:10483 SDHAF2 gene SDHAF2 Expert Review Amber;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors);Multiple endocrine tumours;Multiple Tumours;Neuro-endocrine Tumours- PCC and PGL 27604308 False 2 0;100;0 1.645 False ENSG00000167985 ENSG00000167985 HGNC:26034 SDHC gene SDHC Expert Review Amber;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Complex II (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits);Multiple endocrine tumours;Multiple Tumours;Neuro-endocrine Tumours- PCC and PGL 27604308 False 2 0;100;0 1.645 False ENSG00000143252 ENSG00000143252 HGNC:10682 STAT2 gene STAT2 Expert Review Amber;Other Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 44 616636 False 2 0;100;0 1.645 False ENSG00000170581 ENSG00000170581 HGNC:11363 TH gene TH Expert Review Amber;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Tyrosine hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines);Early onset dystonia;Intellectual disability;Parkinson Disease and Complex Parkinsonism 27604308 False 2 100;0;0 1.645 False ENSG00000180176 ENSG00000180176 HGNC:11782 UQCRQ gene UQCRQ Expert Review Amber;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 4, 615159 18439546;27604308 False 2 0;0;0 1.645 False ENSG00000164405 ENSG00000164405 HGNC:29594 UROC1 gene UROC1 Expert Review Amber;Literature Undiagnosed metabolic disorders Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Urocanase deficiency (Disorders of histidine, tryptophan or lysine metabolism);Intellectual disability 27604308 False 2 0;0;0 1.645 False ENSG00000159650 ENSG00000159650 HGNC:26444