Cholestasis
Gene: GBE1EnsemblGeneIds (GRCh38): ENSG00000114480
EnsemblGeneIds (GRCh37): ENSG00000114480
OMIM: 607839, Gene2Phenotype
GBE1 is in 23 panels
3 reviews
Catherine Snow (Genomics England)
The rating of this gene has been updated to AMBER following NHS Genomic Medicine Service approval.Created: 31 Jan 2023, 2:01 p.m. | Last Modified: 31 Jan 2023, 2:01 p.m.
Panel Version: 2.3
Miranda Durkie (Genetics)
GeneReviews says generally presents after age 40 but may have history of infantile liver disease. No hits from PubMed search thoughCreated: 18 Jan 2022, 5:37 p.m. | Last Modified: 18 Jan 2022, 5:37 p.m.
Panel Version: 1.100
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyglucosan body disease, adult form
Publications
- PMID: 20301758
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:18 p.m. | Last Modified: 3 Mar 2022, 4:18 p.m.
Panel Version: 1.105
This gene has been added to this panel as it is Green on the Neonatal cholestasis panel (v1.16). It has been given an Amber review and awaiting feedback from GMS about whether this gene should be promoted to Green status or not.Created: 18 Nov 2020, 4:01 p.m. | Last Modified: 18 Nov 2020, 4:01 p.m.
Panel Version: 1.74
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Expert list
- 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
Removed Tag, Removed Tag, Removed Tag
Catherine Snow (Genomics England)Tag Q1_22_NHS_review was removed from gene: GBE1. Tag Q2_22_rating was removed from gene: GBE1. Tag Q2_22_expert_review was removed from gene: GBE1.
Added New Source, Added New Source, Status Update
Catherine Snow (Genomics England)Source NHS GMS was added to GBE1. Source Expert Review Amber was added to GBE1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added Tag, Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_22_rating tag was added to gene: GBE1. Tag Q2_22_expert_review tag was added to gene: GBE1.
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: GBE1.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to GBE1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag Q1_22_NHS_review tag was added to gene: GBE1.
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: GBE1 were set to 8613547
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: GBE1.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: GBE1 was added gene: GBE1 was added to Cholestasis. Sources: Expert Review Amber,Expert list Mode of inheritance for gene: GBE1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBE1 were set to 8613547 Phenotypes for gene: GBE1 were set to Glycogen storage disease IV, OMIM:232500