Rhabdomyolysis and metabolic muscle disorders

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 22 panels

2 reviews

Richard Kirk (Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease type IV; adult polyglucosan body disease

Publications

Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Numerous variants reported
Created: 5 Dec 2016, 10:11 a.m.
Comment on phenotypes: Also associated with Polyglucosan body disease, adult form 263570
Created: 5 Dec 2016, 10:10 a.m.

History Filter Activity

18 Jul 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for GBE1 were set to 15452297; 20058079

4 Jan 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Panel promoted to V1 4th January 2017

5 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

5 Dec 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for GBE1 were set to Glycogen storage disease IV 232500

5 Dec 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for GBE1 were set to Glycogen storage disease IV 232500;

1 Dec 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

GBE1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

1 Dec 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene GBE1 was set to BIALLELIC, autosomal or pseudoautosomal

1 Dec 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene GBE1 were set to Glycogen storage disease IV 232500; Polyglucosan body disease, adult form 263570

24 Nov 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

GBE1 was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN

24 Nov 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

GBE1 was created by sleigh