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
-
- Intellectual disability
- Cholestasis
- Undiagnosed metabolic disorders
- Ketotic hypoglycaemia
- Inherited white matter disorders
- Hyperammonaemia
- Neurodegenerative disorders, adult onset
- Fetal hydrops
- DDG2P
- Congenital myopathy
- Leukodystrophy, adult onset
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Rhabdomyolysis and metabolic muscle disorders
- Acute rhabdomyolysis
- Paediatric or syndromic cardiomyopathy
- Glycogen storage disease
- Neonatal cholestasis
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Hereditary spastic paraplegia, adult onset
- Arthrogryposis
- White matter disorders and cerebral calcification - childhood onset
- Fetal anomalies
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