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;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IIIa and IIIb, MIM# 232400 Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 False 3 100;0;0 1.2 True ENSG00000162688 ENSG00000162688 HGNC:321 ALDOA gene ALDOA Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XII , MIM#611881 Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 7331996;8598869;25392908 False 3 100;0;0 1.2 True ENSG00000149925 ENSG00000149925 HGNC:414 ENO3 gene ENO3 Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XIII, MIM#612932 Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 31741825;11506403;18070103;25267339 False 3 100;0;0 1.2 True ENSG00000108515 ENSG00000108515 HGNC:3354 EPM2A gene EPM2A Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2A (Lafora), MIM# 254780 Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 9771710 False 3 100;0;0 1.2 True ENSG00000112425 ENSG00000112425 HGNC:3413 FBP1 gene FBP1 Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Fructose-1,6-bisphosphatase deficiency, MIM# 229700 Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 9382095 False 3 100;0;0 1.2 True ENSG00000165140 ENSG00000165140 HGNC:3606 G6PC gene G6PC Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ia, MIM# 232200 Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 8733042 False 3 100;0;0 1.2 True ENSG00000131482 ENSG00000131482 HGNC:4056 GAA gene GAA Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease II (MIM#232300);MONDO:0009290 Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 25103075;27365701 False 3 100;0;0 1.2 True ENSG00000171298 ENSG00000171298 HGNC:4065 GBE1 gene GBE1 Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, MIM# 232500 Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 8613547 False 3 100;0;0 1.2 True ENSG00000114480 ENSG00000114480 HGNC:4180 GYG1 gene GYG1 Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XV, MIM# 613507;Polyglucosan body myopathy 2, MIM# 616199 Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 31791869;20357282;27718144 False 3 100;0;0 1.2 True ENSG00000163754 ENSG00000163754 HGNC:4699 GYS1 gene GYS1 Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Glycogen storage disease 0, muscle, MIM# 611556" Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 17928598;19699667;21958591 False 3 100;0;0 1.2 True ENSG00000104812 ENSG00000104812 HGNC:4706 GYS2 gene GYS2 Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease 0, liver (MIM#240600) Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 32395408;28245189 False 3 100;0;0 1.2 True ENSG00000111713 ENSG00000111713 HGNC:4707 LAMP2 gene LAMP2 Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease, MIM# 300257 Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 False 3 100;0;0 1.2 True ENSG00000005893 ENSG00000005893 HGNC:6501 LDHA gene LDHA Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XI, MIM# 612933 Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 2334430;1959923;8327147 False 3 100;0;0 1.2 True ENSG00000134333 ENSG00000134333 HGNC:6535 NHLRC1 gene NHLRC1 Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora) 254780 Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 21505799;12958597 False 3 100;0;0 1.2 True ENSG00000187566 ENSG00000187566 HGNC:21576 PFKM gene PFKM Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII (MIM#232800) Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 24427140;27066546;30792690 False 3 100;0;0 1.2 True ENSG00000152556 ENSG00000152556 HGNC:8877 PGAM2 gene PGAM2 Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease X, MIM# 261670 Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 8447317 False 3 100;0;0 1.2 True ENSG00000164708 ENSG00000164708 HGNC:8889 PGK1 gene PGK1 Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Phosphoglycerate kinase 1 deficiency, MIM# 300653;MONDO:0010392 Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 6933565;1547346;7577653;9512313 False 3 100;0;0 1.2 True ENSG00000102144 ENSG00000102144 HGNC:8896 PGM1 gene PGM1 Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type It 614921;Glycogen storage disorder XIV Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 19625727;24499211 False 3 100;0;0 1.2 True ENSG00000079739 ENSG00000079739 HGNC:8905 PHKA1 gene PHKA1 Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Muscle glycogenosis, MIM# 300559 Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 7874115;12825073;9731190 False 3 100;0;0 1.2 True ENSG00000067177 ENSG00000067177 HGNC:8925 PHKA2 gene PHKA2 Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders Unknown Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 False 3 100;0;0 1.2 False ENSG00000044446 ENSG00000044446 HGNC:8926 PHKB gene PHKB Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750;Glycogen storage disease IXb, MONDO:0009868 Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 9215682;25266922;30659246 False 3 100;0;0 1.2 True ENSG00000102893 ENSG00000102893 HGNC:8927 PHKG2 gene PHKG2 Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IXc, MIM# 613027 Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 8896567;9384616;10905889 False 3 100;0;0 1.2 True ENSG00000156873 ENSG00000156873 HGNC:8931 PRKAG2 gene PRKAG2 Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glycogen storage disease of heart, lethal congenital, MIM# 261740 Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 15877279;17667862;32646569 False 3 100;0;0 1.2 True ENSG00000106617 ENSG00000106617 HGNC:9386 PYGL gene PYGL Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VI, MIM# 232700 Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 9529348;9536091;33505429;32961316;32892177 False 3 100;0;0 1.2 True ENSG00000100504 ENSG00000100504 HGNC:9725 PYGM gene PYGM Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal McArdle disease, MIM# 232600;Glycogen storage disease, autosomal dominant Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 32386344 False 3 100;0;0 1.2 True ENSG00000068976 ENSG00000068976 HGNC:9726 RBCK1 gene RBCK1 Expert list;Expert Review Green Glycogen Storage Diseases Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Polyglucosan body myopathy 1 with or without immunodeficiency MIM#615895 Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 23798481;23104095 False 3 100;0;0 1.2 True ENSG00000125826 ENSG00000125826 HGNC:15864 SLC2A2 gene SLC2A2 Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Fanconi-Bickel syndrome (MIM#227810) Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 30950137;22145468 False 3 100;0;0 1.2 True ENSG00000163581 ENSG00000163581 HGNC:11006 SLC37A4 gene SLC37A4 Expert Review Green;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ib (MIM#232220);Glycogen storage disease Ic (MIM#232240) Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 28224773;31508908;32005221 False 3 100;0;0 1.2 True ENSG00000137700 ENSG00000137700 HGNC:4061 ALDOB gene ALDOB Expert Review Red;Victorian Clinical Genetics Services Glycogen Storage Diseases Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Fructose intolerance, hereditary, MIM# 229600 Abnormal hepatic glycogen storage;HP:0500030; Abnormal muscle glycogen content;HP:0012269; Visceromegaly;HP:0003271;Hypoglycemia;HP:0001943 False 1 0;0;100 1.2 True ENSG00000136872 ENSG00000136872 HGNC:417