Cholestasis
Gene: GBE1
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
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
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
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.
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)
Tag Q2_22_rating tag was added to gene: GBE1. Tag Q2_22_expert_review tag was added to gene: GBE1.
Tag for-review was removed from gene: GBE1.
Source Expert Review Green was added to GBE1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_22_NHS_review tag was added to gene: GBE1.
Publications for gene: GBE1 were set to 8613547
Tag for-review tag was added to gene: GBE1.
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