Ketotic hypoglycaemia
Gene: GBE1EnsemblGeneIds (GRCh38): ENSG00000114480
EnsemblGeneIds (GRCh37): ENSG00000114480
OMIM: 607839, Gene2Phenotype
GBE1 is in 23 panels
1 review
Alexander Broomfield (Central Manchester Foundation Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Glycogen storage disease IV, OMIM:232500
- Polyglucosan body disease, adult form, OMIM:263570
- OMIM
- 607839
- Clinvar variants
- Variants in GBE1
- Penetrance
- Complete
- Panels with this gene
-
- Acute rhabdomyolysis
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Fetal anomalies
- Cholestasis
- White matter disorders and cerebral calcification - narrow panel
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Likely inborn error of metabolism
- Inherited white matter disorders
- Hyperammonaemia
- Fetal hydrops
- Adult onset leukodystrophy
- Paediatric or syndromic cardiomyopathy
- Adult onset neurodegenerative disorder
- Intellectual disability
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
- Congenital myopathy
- Childhood onset dystonia, chorea or related movement disorder
- Glycogen storage disease
- DDG2P
- Neonatal cholestasis
- Adult onset hereditary spastic paraplegia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GBE1 were changed from failure to thrive in addition to hepatomegaly van have neuromuscular adult form ( polyglucosan body ideas which presents with neurogenic bladder, gait difficulties; Glycogen storage disease IV, 232500; Polyglucosan body disease, adult form, 263570; Glycogen Storage Disease Type IV; Glycogen Storage Disorders- Liver; Glycogen Storage Disorders- Muscle; Glycogen Storage Disease to Glycogen storage disease IV, OMIM:232500; Polyglucosan body disease, adult form, OMIM:263570
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Alexander Broomfield (Central Manchester Foundation Trust)GBE1 was added to Ketotic hypoglycaemiapanel. Sources: Literature