Sudden cardiac death - previous panel
Gene: GAA

GAA (glucosidase alpha, acid)
EnsemblGeneIds (GRCh38): ENSG00000171298
EnsemblGeneIds (GRCh37): ENSG00000171298
OMIM: 606800, Gene2Phenotype
GAA is in 18 panels

1 review

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.

Created: 20 Feb 2019, 2:17 p.m.

Panel version: Imported from Molecular autopsy panel version 0.86

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

London South GLH
Expert Review Green
London South GLH
Expert Review Green

Phenotypes

Glycogen storage disease II, 232300
syndromic HCM

OMIM

606800

Clinvar variants

Variants in GAA

Penetrance

None

Panels with this gene

History Filter Activity

9 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: GAA was added gene: GAA was added to Sudden cardiac death. Sources: Expert Review Green,London South GLH Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GAA were set to Glycogen storage disease II, 232300; syndromic HCM

Sudden cardiac death - previous panel Gene: GAA