Neonatal cholestasis
Gene: GBE1EnsemblGeneIds (GRCh38): ENSG00000114480
EnsemblGeneIds (GRCh37): ENSG00000114480
OMIM: 607839, Gene2Phenotype
GBE1 is in 23 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 7 variants identified in at least 4 unrelated cases with hepatic involvement.Created: 14 Aug 2018, 2:53 p.m.
Comment on phenotypes: Variants also reported in Polyglucosan body disease, adult form 263570, but this phenotype does not appear to include hepatic features.Created: 14 Aug 2018, 12:48 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Glycogen storage disease IV, OMIM:232500
- OMIM
- 607839
- Clinvar variants
- Variants in GBE1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- Cholestasis
- White matter disorders and cerebral calcification - narrow panel
- DDG2P
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Ketotic hypoglycaemia
- Intellectual disability
- Adult onset leukodystrophy
- Inherited white matter disorders
- Hyperammonaemia
- Fetal hydrops
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Congenital myopathy
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Glycogen storage disease
- Adult onset hereditary spastic paraplegia
- Neonatal cholestasis
- Fetal anomalies
- Undiagnosed metabolic disorders
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV 232500 to Glycogen storage disease IV, OMIM:232500
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: gbe1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: gbe1 has been classified as Green List (High Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: GBE1 were set to 8613547
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: GBE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: GBE1 were set to Glycogen storage disease IV 232500
Added New Source
Ellen McDonagh (Genomics England Curator)GBE1 was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)GBE1 was created by Ellen McDonagh