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 ARSB gene ARSB Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Mucopolysaccharideosis, Gaucher, Fabry Lysosomal storage disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200;Mucopolysaccharidosis, Type VI;Mucopolysaccharidosis Type VI;MUCOPOLYSACCHARIDOSIS TYPE 6 False 3 100;0;0 1.5 True ENSG00000113273 ENSG00000113273 HGNC:714 GALNS gene GALNS Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Mucopolysaccharideosis, Gaucher, Fabry Lysosomal storage disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis IVA, 253000;Mucopolysaccharidosis, Type IV;Mucopolysaccharidosis Type IVA;MUCOPOLYSACCHARIDOSIS TYPE 4A False 3 100;0;0 1.5 True ENSG00000141012 ENSG00000141012 HGNC:4122 GBA gene GBA Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Mucopolysaccharideosis, Gaucher, Fabry Lysosomal storage disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Gaucher disease;Gaucher disease, type I, 230800;Gaucher disease, type II, 230900;Gaucher disease, type III, 231000;Gaucher disease, type IIIC, 231005;Gaucher disease, perinatal lethal, 608013 False 3 100;0;0 1.5 True ENSG00000177628 ENSG00000177628 HGNC:4177 GLA gene GLA Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Mucopolysaccharideosis, Gaucher, Fabry Lysosomal storage disorders Metabolic disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fabry disease, 301500; Fabry disease, cardiac variant, 301500;Fabry Disease False 3 100;0;0 1.5 True ENSG00000102393 ENSG00000102393 HGNC:4296 GLB1 gene GLB1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Mucopolysaccharideosis, Gaucher, Fabry Lysosomal storage disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal GM1-gangliosidosis, type I, 230500;GM1-gangliosidosis, type II, 230600;GM1-gangliosidosis, type III, 230650;Mucopolysaccharidosis type IVB (Morquio), 253010;Mucopolysaccharidosis, Type IV;Mucopolysaccharidosis Type IVB;MUCOPOLYSACCHARIDOSIS TYPE 4B False 3 100;0;0 1.5 True ENSG00000170266 ENSG00000170266 HGNC:4298 GNPTAB gene GNPTAB Expert Review Green;Illumina TruGenome Clinical Sequencing Services Mucopolysaccharideosis, Gaucher, Fabry Lysosomal storage disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mucolipidosis, Type II;Mucolipidosis, Type III Alpha/Beta;Mucolipidosis II alpha/beta;Mucolipidosis III alpha/beta PMID: 16116615;16200072;16630736 False 3 100;0;0 1.5 True ENSG00000111670 ENSG00000111670 HGNC:29670 GNPTG gene GNPTG Expert Review Green;Illumina TruGenome Clinical Sequencing Services Mucopolysaccharideosis, Gaucher, Fabry Lysosomal storage disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mucolipidosis, Type III Gamma;Mucolipidosis III gamma;mucolipidpsis type III complementation group C PMID: 10712439;19370764;19659762 False 3 100;0;0 1.5 True ENSG00000090581 ENSG00000090581 HGNC:23026 GNS gene GNS Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Mucopolysaccharideosis, Gaucher, Fabry Lysosomal storage disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIID, OMIM:252940 False 3 100;0;0 1.5 True ENSG00000135677 ENSG00000135677 HGNC:4422 GUSB gene GUSB Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Mucopolysaccharideosis, Gaucher, Fabry Lysosomal storage disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis VII, 253220;Mucopolysaccharidosis, Type VII;Mucopolysaccharidosis Type VII;MUCOPOLYSACCHARIDOSIS TYPE 7 False 3 100;0;0 1.5 True ENSG00000169919 ENSG00000169919 HGNC:4696 HGSNAT gene HGSNAT Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Mucopolysaccharideosis, Gaucher, Fabry Lysosomal storage disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930;Mucopolysaccharidosis, Type III;Mucopolysaccharidosis Type IIIC;Mucopolysaccharidosis Type III;Retinitis Pigmentosa 73 False 3 100;0;0 1.5 True ENSG00000165102 ENSG00000165102 HGNC:26527 IDS gene IDS Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Mucopolysaccharideosis, Gaucher, Fabry Lysosomal storage disorders Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Mucopolysaccharidosis II, 309900;Mucopolysaccharidosis Type II;MUCOPOLYSACCHARIDOSIS TYPE 2 False 3 100;0;0 1.5 True ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Mucopolysaccharideosis, Gaucher, Fabry Lysosomal storage disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Ih, 607014;Mucopolysaccharidosis type 1H;Mucopolysaccharidosis type 1S;Mucopolysaccharidosis Is, 607016;Mucopolysaccharidosis type 1H/S;Mucopolysaccharidosis Ih/s, 607015;Mucopolysaccharidosis, Type I;Hurler syndrome;Hurler-Scheie syndrome;Scheie syndrome False 3 100;0;0 1.5 True ENSG00000127415 ENSG00000127415 HGNC:5391 MCOLN1 gene MCOLN1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services Mucopolysaccharideosis, Gaucher, Fabry Lysosomal storage disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mucolipidosis, Type IV False 3 0;0;100 1.5 True ENSG00000090674 ENSG00000090674 HGNC:13356 NAGLU gene NAGLU Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Mucopolysaccharideosis, Gaucher, Fabry Lysosomal storage disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIB (Sanfilippo B), 252920;Mucopolysaccharidosis, Type III;Mucopolysaccharidosis Type IIIB;Mucopolysaccharidosis Type III;MUCOPOLYSACCHARIDOSIS TYPE 3B False 3 100;0;0 1.5 True ENSG00000108784 ENSG00000108784 HGNC:7632 NEU1 gene NEU1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services Mucopolysaccharideosis, Gaucher, Fabry Lysosomal storage disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Sialidosis, type I, OMIM:256550;Sialidosis, type II, OMIM:256550 PMID: 8985184;11063730;11829139;14695530 False 3 100;0;0 1.5 True ENSG00000204386 ENSG00000204386 HGNC:7758 PSAP gene PSAP Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Mucopolysaccharideosis, Gaucher, Fabry Lysosomal storage disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy due to SAP-b deficiency, 249900;Gaucher disease, atypical, 610539;Combined SAP deficiency, 611721;Krabbe disease, atypical, 611722;Atypical Gaucher disease;Atypical Krabbe disease;Combined SAP deficiency;Atypical Gaucher disease;Atypical Krabbe disease;Combined SAP deficiency PMID: 2060627;8460394;15856305;17919309 False 3 100;0;0 1.5 True ENSG00000197746 ENSG00000197746 HGNC:9498 SGSH gene SGSH Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Mucopolysaccharideosis, Gaucher, Fabry Lysosomal storage disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis, Type III;Mucopolysaccharidosis Type IIIA;Mucopolysaccharidosis Type III;MUCOPOLYSACCHARIDOSIS TYPE 3A False 3 100;0;0 1.5 True ENSG00000181523 ENSG00000181523 HGNC:10818 HYAL1 gene HYAL1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Mucopolysaccharideosis, Gaucher, Fabry Lysosomal storage disorders Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IX, 601492;Mucopolysaccharidosis, Type IX PMID: 10339581 False 1 0;0;100 1.5 True ENSG00000114378 ENSG00000114378 HGNC:5320