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 ACAT1 gene ACAT1 Expert Review Green;Literature Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Fasting intolerance with acidosis, ? residual neurological problems Daum RS, Scriver CR 1973 and Fukao T , Yamaguchi S, Kano 1990 False 3 100;0;0 1.10 True ENSG00000075239 ENSG00000075239 HGNC:93 AGL gene AGL Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance;Glycogen storage disease IIIa, 232400; Glycogen storage disease IIIb, 232400;Glycogen Storage Disease Type III;Glycogen Storage Disorders- Liver;Glycogen Storage Disorders- Muscle;Glycogen Storage Disease False 3 100;0;0 1.10 True ENSG00000162688 ENSG00000162688 HGNC:321 ALDOA gene ALDOA Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XII, 611881; Glycogen Storage Disease False 3 100;0;0 1.10 True ENSG00000149925 ENSG00000149925 HGNC:414 ALDOB gene ALDOB Expert Review Green;Literature Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal acidosis with ketototic hypoglycaemia often hepatomegaly in acute presentation;hereditary fructose intolerance Ali M, Cox TM 1995 and Cross, NCP Cox TM. False 3 100;0;0 1.10 True ENSG00000136872 ENSG00000136872 HGNC:417 BTD gene BTD Expert Review Green;Literature Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal lactic acidosis with seizures and eczema,immune deficiency False 3 100;0;0 1.10 True ENSG00000169814 ENSG00000169814 HGNC:1122 FBP1 gene FBP1 Emory Genetics Laboratory;Expert Review Green;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen Storage Disorders- Liver; Glycogen Storage Disease False 3 100;0;0 1.10 True ENSG00000165140 ENSG00000165140 HGNC:3606 G6PC gene G6PC Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ia, OMIM:232200 False 3 100;0;0 1.10 True ENSG00000131482 ENSG00000131482 HGNC:4056 GBE1 gene GBE1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IV, OMIM:232500;Polyglucosan body disease, adult form, OMIM:263570 False 3 100;0;0 1.10 True ENSG00000114480 ENSG00000114480 HGNC:4180 GYS2 gene GYS2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal fasting intolerance without enlarged liver;Glycogen storage disease, type 0, 240600;Glycogen Storage Disease Type 0, Liver;Glycogen Storage Disorders- Liver;Glycogen Storage Disease Orho, M., Bosshard 1998 False 3 100;0;0 1.10 True ENSG00000111713 ENSG00000111713 HGNC:4707 HLCS gene HLCS Expert Review Green;Literature Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal lactic acidosis with seizures and eczema, immune deficiency;Holocarboxylase synthetase deficiency False 3 100;0;0 1.10 True ENSG00000159267 ENSG00000159267 HGNC:4976 IVD gene IVD Expert Review Green;Literature Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections. False 3 100;0;0 1.10 True ENSG00000128928 ENSG00000128928 HGNC:6186 LDHA gene LDHA Expert Review Green;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; Glycogen storage disease XI, 612933 2334430;1959923;26067360;6517049 False 3 0;0;0 1.10 True ENSG00000134333 ENSG00000134333 HGNC:6535 MCEE gene MCEE Emory Genetics Laboratory;Expert Review;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections; Methylmalonyl-CoA epimerase deficiency 16697227 - proband and sibling with mild methylmalonic aciduria were found to be homozygous for the c.139C>T, p.R47X variant, with heterozygous unaffected parents;16752391 (a case report of a patient who was homozygous for the R47X variant in MCEE, but also homozygous for a second variant in the SPR gene);25763508 (a case homozygous for c.139C>T, p.Arg47* in the MCEE gene, and c.751A>T, p.Lys251* in the SRD gene;17823972 - sequencing of cell lines from 229 patients with elevations of methylmalonic acid excretion for which no cause was known identified 5 cell lines with MCEE variants. In fibroblast lines from two patients with the c.139C>T, p.R47X variant, WT cDNA corrected the biochemical phenotype in the cells.;16697227 - proband and sibling with mild methylmalonic aciduria were found to be homozygous for the c.139C>T, p.R47X variant, with heterozygous unaffected parents;16752391 (a case report of a patient who was homozygous for the R47X variant in MCEE, but also homozygous for a second variant in the SPR gene);25763508 (a case homozygous for c.139C>T, p.Arg47* in the MCEE gene, and c.751A>T, p.Lys251* in the SRD gene;17823972 - sequencing of cell lines from 229 patients with elevations of methylmalonic acid excretion for which no cause was known identified 5 cell lines with MCEE variants. In fibroblast lines from two patients with the c.139C>T, p.R47X variant, WT cDNA corrected the biochemical phenotype in the cells. False 3 100;0;0 1.10 True ENSG00000124370 ENSG00000124370 HGNC:16732 MUT gene MUT Expert Review Green;Literature Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections. False 3 100;0;0 1.10 True ENSG00000146085 ENSG00000146085 HGNC:7526 OXCT1 gene OXCT1 Expert Review Green;Literature Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal severe ketosis on fasting often ketotic in fed state no hepatomegaly;Succinyl CoA:3-oxoacid CoA transferase deficiency Middleton B , Day R 1987 and Kassovska-Bratinova S, Fukao, T 1996 False 3 100;0;0 1.10 True ENSG00000083720 ENSG00000083720 HGNC:8527 PC gene PC Expert Review Green;Literature Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Pyruvate carboxylase deficiency, OMIM:266150 False 3 100;0;0 1.10 True ENSG00000173599 ENSG00000173599 HGNC:8636 PCCA gene PCCA Expert Review Green;Literature Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections;Propionicacidemia;Propionic acidemia False 3 100;0;0 1.10 True ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB Expert Review Green;Literature Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal as PCCA (metabolic encephalopathy with hyperammonaemia, hypotonia, recurrent episodes of ketoacidosis, liver impairment, psychomotor retardation, recurrent infections);Propionicacidemia;Propionic acidemia False 3 100;0;0 1.10 True ENSG00000114054 ENSG00000114054 HGNC:8654 PGM1 gene PGM1 Emory Genetics Laboratory;Expert Review Green;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 XIV, 612934; Congenital disorder of glycosylation, type It, 614921; Glycogen Storage Disease Type XIV; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease False 3 0;100;0 1.10 True ENSG00000079739 ENSG00000079739 HGNC:8905 PHKA2 gene PHKA2 Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females hepatomegaly and mild hypoglycaemia ;Glycogen storage disease, type IXa1, 306000; Glycogen storage disease, type IXa2, 306000;Glycogen Storage Disorders- Liver;Glycogen Storage Disease False 3 100;0;0 1.10 True ENSG00000044446 ENSG00000044446 HGNC:8926 PHKB gene PHKB Emory Genetics Laboratory;Expert Review Green;Literature;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hepatomegaly and variable myopathy;Glycogen Storage Disorders- Liver;Glycogen Storage Disorders- Muscle;Glycogen Storage Disease False 3 100;0;0 1.10 True ENSG00000102893 ENSG00000102893 HGNC:8927 PHKG2 gene PHKG2 Emory Genetics Laboratory;Expert Review Green;Literature;Radboud University Medical Center, Nijmegen;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hepatomegaly and variable myopathy;Glycogen storage disease IXc, 613027; Cirrhosis due to liver phosphorylase kinase deficiency;Glycogen Storage Disorders- Liver;Glycogen Storage Disease False 3 100;0;0 1.10 True ENSG00000156873 ENSG00000156873 HGNC:8931 PYGL gene PYGL Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal hepatomegaly and mild hypoglycaemia ;Glycogen storage disease VI, 232700;Glycogen Storage Disease Type VI;Glycogen Storage Disorders- Liver;Glycogen Storage Disease False 3 100;0;0 1.10 True ENSG00000100504 ENSG00000100504 HGNC:9725 SLC16A1 gene SLC16A1 Expert Review;Expert Review Green Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Erythrocyte lactate transporter defect, OMIM:245340;Hyperinsulinemic hypoglycemia, familial, 7, OMIM:610021;Monocarboxylate transporter 1 deficiency, OMIM:616095 26608392;17701893 False 3 0;0;0 1.10 True ENSG00000155380 ENSG00000155380 HGNC:10922 SLC2A2 gene SLC2A2 Emory Genetics Laboratory;Expert Review Green;Literature;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal renal falcon syndrome, aminoaciduria phosphaturia, small stature, malabsorption, hepatomegaly and nephromegaly.;Glycogen Storage Disorders- Liver;Fanconi-Bickel Syndrome False 3 100;0;0 1.10 True ENSG00000163581 ENSG00000163581 HGNC:11006 SLC37A4 gene SLC37A4 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ib, OMIM:232220;Glycogen storage disease Ic, OMIM:232240 False 3 100;0;0 1.10 True ENSG00000137700 ENSG00000137700 HGNC:4061 TANGO2 gene TANGO2 Expert Review;Expert Review Green Ketotic hypoglycaemia Specific metabolic abnormalities Metabolic disorders BIALLELIC, autosomal or pseudoautosomal "Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 616878" 26805782;30245509 False 3 100;0;0 1.10 False ENSG00000183597 ENSG00000183597 HGNC:25439