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 AGL gene AGL Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IIIb, 232400;Glycogen storage disease IIIa, 232400 20301788 False 3 100;0;0 2.6 False ENSG00000162688 ENSG00000162688 HGNC:321 ALDOA gene ALDOA Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XII 611881 False 3 100;0;0 2.6 False ENSG00000149925 ENSG00000149925 HGNC:414 ALDOB gene ALDOB Expert Review Green;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic BIALLELIC, autosomal or pseudoautosomal Fructose intolerance, hereditary 229600 26677512 False 3 100;0;0 2.6 False ENSG00000136872 ENSG00000136872 HGNC:417 ENO3 gene ENO3 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XIII 612932 False 3 100;0;0 2.6 False ENSG00000108515 ENSG00000108515 HGNC:3354 EPM2A gene EPM2A Expert Review Green;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic BIALLELIC, autosomal or pseudoautosomal Myoclonic epilepsy of Lafora 1, OMIM:254780 False 3 100;0;0 2.6 False ENSG00000112425 ENSG00000112425 HGNC:3413 FBP1 gene FBP1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic BIALLELIC, autosomal or pseudoautosomal Fructose-1,6-bisphosphatase deficiency 229700 False 3 100;0;0 2.6 False ENSG00000165140 ENSG00000165140 HGNC:3606 G6PC gene G6PC Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ia, OMIM:232200 20301489;35961004 False 3 100;0;0 2.6 False ENSG00000131482 ENSG00000131482 HGNC:4056 GAA gene GAA Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease II 232300 20301438 False 3 100;0;0 2.6 False ENSG00000171298 ENSG00000171298 HGNC:4065 GBE1 gene GBE1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, OMIM:232500 23285490 False 3 100;0;0 2.6 False ENSG00000114480 ENSG00000114480 HGNC:4180 GYG1 gene GYG1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XV 613507 False 3 100;0;0 2.6 False ENSG00000163754 ENSG00000163754 HGNC:4699 GYS1 gene GYS1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease 0, muscle 611556 False 3 100;0;0 2.6 False ENSG00000104812 ENSG00000104812 HGNC:4706 GYS2 gene GYS2 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease 0, liver 240600 False 3 100;0;0 2.6 False ENSG00000111713 ENSG00000111713 HGNC:4707 LAMP2 gene LAMP2 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease 300257 False 3 100;0;0 2.6 False ENSG00000005893 ENSG00000005893 HGNC:6501 LDHA gene LDHA Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XI 612933 False 3 100;0;0 2.6 False ENSG00000134333 ENSG00000134333 HGNC:6535 NHLRC1 gene NHLRC1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora) 254780 False 3 100;0;0 2.6 False ENSG00000187566 ENSG00000187566 HGNC:21576 PFKM gene PFKM Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII 232800 False 3 100;0;0 2.6 False ENSG00000152556 ENSG00000152556 HGNC:8877 PGAM2 gene PGAM2 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease X 261670 False 3 100;0;0 2.6 False ENSG00000164708 ENSG00000164708 HGNC:8889 PGK1 gene PGK1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Phosphoglycerate kinase 1 deficiency 300653 False 3 100;0;0 2.6 False ENSG00000102144 ENSG00000102144 HGNC:8896 PGM1 gene PGM1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type It 614921 False 3 100;0;0 2.6 False ENSG00000079739 ENSG00000079739 HGNC:8905 PHKA1 gene PHKA1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Muscle glycogenosis 300559 21634085 False 3 100;0;0 2.6 False ENSG00000067177 ENSG00000067177 HGNC:8925 PHKA2 gene PHKA2 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic X-LINKED: hemizygous mutation in males, biallelic mutations in females Glycogen storage disease, type IXa2 306000;Glycogen storage disease, type IXa1 306000 21634085 False 3 100;0;0 2.6 False ENSG00000044446 ENSG00000044446 HGNC:8926 PHKB gene PHKB Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ixb, Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750 21634085 False 3 100;0;0 2.6 False ENSG00000102893 ENSG00000102893 HGNC:8927 PHKG2 gene PHKG2 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IXc 613027 21634085 False 3 100;0;0 2.6 False ENSG00000156873 ENSG00000156873 HGNC:8931 PRKAG2 gene PRKAG2 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glycogen storage disease of heart, lethal congenital 261740 False 3 100;0;0 2.6 False ENSG00000106617 ENSG00000106617 HGNC:9386 PYGL gene PYGL Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VI 232700 20301760 False 3 100;0;0 2.6 False ENSG00000100504 ENSG00000100504 HGNC:9725 PYGM gene PYGM Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease V 232600 20301518;32386344 False 3 100;0;0 2.6 False ENSG00000068976 ENSG00000068976 HGNC:9726 RBCK1 gene RBCK1 Expert list;Expert Review Green;NHS GMS Glycogen storage disease Metabolic BIALLELIC, autosomal or pseudoautosomal Polyglucosan body myopathy 1 with or without immunodeficiency OMIM:615895;polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0014389 23798481;23104095 False 3 100;0;0 2.6 False ENSG00000125826 ENSG00000125826 HGNC:15864 SLC2A2 gene SLC2A2 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic BIALLELIC, autosomal or pseudoautosomal Fanconi-Bickel syndrome 227810 False 3 100;0;0 2.6 False ENSG00000163581 ENSG00000163581 HGNC:11006 SLC37A4 gene SLC37A4 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Glycogen storage disease Metabolic BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ib, OMIM:232220;Glycogen storage disease Ic, OMIM:232240 20301489 False 3 100;0;0 2.6 False ENSG00000137700 ENSG00000137700 HGNC:4061