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 ABCC8 gene ABCC8 Expert Review Red;Radboud University Medical Center, Nijmegen Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders Unknown Hyperinsulinemic hypoglycemia, familial, 1, 256450; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, transient neonatal 2, 610374; Diabetes mellitus, noninsulin-dependent, 125853; Diabetes mellitus, noninsulin-dependent, 125854 False 1 0;0;100 1.10 True ENSG00000006071 ENSG00000006071 HGNC:59 BAAT gene BAAT Expert Review Red;Literature Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal choleostatic liver disease False 1 0;0;100 1.10 True ENSG00000136881 ENSG00000136881 HGNC:932 ENO3 gene ENO3 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XIII, 612932; Glycogen Storage Disease Type XIII; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease False 1 0;0;100 1.10 True ENSG00000108515 ENSG00000108515 HGNC:3354 EPM2A gene EPM2A Expert Review Red;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders Unknown Glycogen Storage Disease False 1 0;0;100 1.10 True ENSG00000112425 ENSG00000112425 HGNC:3413 FBP2 gene FBP2 Expert Review Red;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders Unknown Glycogen Storage Disease False 1 0;0;100 1.10 True ENSG00000130957 ENSG00000130957 HGNC:3607 GAA gene GAA Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease II, 232300; Glycogen Storage Disease, Type II; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease; Glycogen Storage Disease II False 1 0;0;100 1.10 True ENSG00000171298 ENSG00000171298 HGNC:4065 GYG1 gene GYG1 Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XV, 613507; Glycogen Storage Disease False 1 0;0;100 1.10 True ENSG00000163754 ENSG00000163754 HGNC:4699 GYG2 gene GYG2 Expert Review Red;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Glycogen Storage Disease PMID: 25751106 - investigated patients with a GYG2 gene deletion and conclude that GN2 (encoded by GYG2) is not required for liver glycogen synthesis and glucagon-stimulated glucose release. PMID: 24100632 - candidate variants in the GYG2 gene found in male siblings with Leigh syndrome showing ketoemia, with some functional evidence. False 1 0;100;0 1.10 True ENSG00000056998 ENSG00000056998 HGNC:4700 GYS1 gene GYS1 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease 0, muscle, 611556; Glycogen Storage Disease Type 0, Muscle; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease False 1 0;0;100 1.10 True ENSG00000104812 ENSG00000104812 HGNC:4706 LAMP2 gene LAMP2 Emory Genetics Laboratory;Expert Review Red;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders Unknown Glycogen Storage Disorders- Muscle; Glycogen Storage Disease False 1 0;0;100 1.10 True ENSG00000005893 ENSG00000005893 HGNC:6501 NHLRC1 gene NHLRC1 Expert Review Red;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders Unknown Glycogen Storage Disease False 1 0;0;100 1.10 True ENSG00000187566 ENSG00000187566 HGNC:21576 PFKL gene PFKL Expert Review Red;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders Unknown Glycogen Storage Disease;Hemolytic anemia due to phosphofructokinase deficiency False 1 0;100;0 1.10 True ENSG00000141959 ENSG00000141959 HGNC:8876 PFKM gene PFKM Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII, 232800; Glycogen Storage Disease Type VII; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease False 1 0;0;100 1.10 True ENSG00000152556 ENSG00000152556 HGNC:8877 PGAM2 gene PGAM2 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease X, 261670; Glycogen Storage Disease Type X; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease False 1 0;0;100 1.10 True ENSG00000164708 ENSG00000164708 HGNC:8889 PGK1 gene PGK1 Expert Review Red;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders Unknown Glycogen Storage Disease False 1 0;0;100 1.10 True ENSG00000102144 ENSG00000102144 HGNC:8896 PRKAG2 gene PRKAG2 Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wolff-Parkinson-White syndrome, 194200; Cardiomyopathy, familial hypertrophic 6, 600858; Glycogen storage disease of heart, lethal congenital, 261740; Glycogen Storage Disease of Heart, Lethal Congenital; Glycogen Storage Disorders- Muscle False 1 0;0;100 1.10 True ENSG00000106617 ENSG00000106617 HGNC:9386 PYGM gene PYGM Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen Storage Disease Type V; Glycogen Storage Disease V (McArdle Disease); Glycogen Storage Disorders- Muscle; Glycogen Storage Disease; Glycogen Storage Disease V False 1 0;0;100 1.10 True ENSG00000068976 ENSG00000068976 HGNC:9726 SLC27A5 gene SLC27A5 Expert Review Red;Literature Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal choleostatic jaundice and hepatomegaly False 1 0;0;100 1.10 True ENSG00000083807 ENSG00000083807 HGNC:10999