Cholestasis

Gene: GBA

Amber List (moderate evidence)

GBA (glucosylceramidase beta)
EnsemblGeneIds (GRCh38): ENSG00000177628
EnsemblGeneIds (GRCh37): ENSG00000177628
OMIM: 606463, Gene2Phenotype
GBA is in 25 panels

2 reviews

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Ten cases reported presenting as neonatal cholestasis. Treatable metabolic disorder.
Sources: Expert list
Created: 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

History Filter Activity

29 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: gba has been classified as Amber List (Moderate Evidence).

29 Oct 2020, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: GBA.

28 Oct 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

8 Aug 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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