Neonatal cholestasis

Gene: GBA

Green List (high evidence)

GBA (glucosylceramidase beta)
EnsemblGeneIds (GRCh38): ENSG00000177628
EnsemblGeneIds (GRCh37): ENSG00000177628
OMIM: 606463, Gene2Phenotype
GBA is in 23 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with relevant phenotype in OMIM and as both DD and IF Gen2Phen gene. At least 40 variants reported.
Created: 14 Aug 2018, 12:44 p.m.
Comment on phenotypes: 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 all these phenotypes have hepatomegaly as a clinical feature
Created: 14 Aug 2018, 12:36 p.m.

History Filter Activity

3 Sep 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

14 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gba has been classified as Green List (High Evidence).

14 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: gba has been classified as Green List (High Evidence).

14 Aug 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: GBA was changed from to BIALLELIC, autosomal or pseudoautosomal

14 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GBA were set 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

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GBA was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services

21 Jun 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

GBA was created by Ellen McDonagh