Neonatal cholestasis

Gene: GBE1

Green List (high evidence)

GBE1 (1,4-alpha-glucan branching enzyme 1)
EnsemblGeneIds (GRCh38): ENSG00000114480
EnsemblGeneIds (GRCh37): ENSG00000114480
OMIM: 607839, Gene2Phenotype
GBE1 is in 17 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 7 variants identified in at least 4 unrelated cases with hepatic involvement.
Created: 14 Aug 2018, 2:53 p.m.
Comment on phenotypes: Variants also reported in Polyglucosan body disease, adult form 263570, but this phenotype does not appear to include hepatic features.
Created: 14 Aug 2018, 12:48 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: gbe1 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: gbe1 has been classified as Green List (High Evidence).

14 Aug 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: GBE1 were set to 8613547

14 Aug 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: GBE1 was changed from to BIALLELIC, autosomal or pseudoautosomal

14 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: GBE1 were set to Glycogen storage disease IV 232500

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GBE1 was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services

21 Jun 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

GBE1 was created by Ellen McDonagh