Cholestasis
Gene: GBAAdded new-gene-name tag, new approved HGNC gene symbol for GBA is GBA1.Created: 30 Jun 2022, 3:17 p.m. | Last Modified: 30 Jun 2022, 4:13 p.m.
Panel Version: 1.110
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
Comment on list classification: New gene added by Zornitza Stark. There is enough evidence to support a gene-disease association. This gene has been given an Amber review and will be promoted to a Green gene at the next review.
This gene is also Green on the Neonatal cholestasis panel (v1.4) with the following review:
"Comment when marking as ready: Associated with relevant phenotype in OMIM and as both DD and IF Gen2Phen gene. At least 40 variants reported.
Sarah Leigh (Genomics England Curator), 14 Aug 2018"Created: 29 Oct 2020, 11:28 a.m. | Last Modified: 29 Oct 2020, 11:28 a.m.
Panel Version: 1.48
Ten cases reported presenting as neonatal cholestasis. Treatable metabolic disorder.
Sources: Expert listCreated: 8 Aug 2020, 8:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gaucher disease
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag new-gene-name tag was added to gene: GBA.
Tag for-review was removed from gene: GBA.
Source Expert Review Green was added to GBA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: gba has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: GBA.
Phenotypes for gene: GBA were changed from Gaucher disease to Gaucher disease, perinatal lethal 608013; Gaucher disease, type I 230800; Gaucher disease, type II 230900; Gaucher disease, type III 231000; Gaucher disease, type IIIC 231005
gene: GBA was added gene: GBA was added to Cholestasis. Sources: Expert list Mode of inheritance for gene: GBA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GBA were set to 32324335 Phenotypes for gene: GBA were set to Gaucher disease Review for gene: GBA was set to GREEN gene: GBA was marked as current diagnostic