Hypertrophic cardiomyopathy - teen and adult

Gene: GAA

Red List (low evidence)

GAA (glucosidase alpha, acid)
EnsemblGeneIds (GRCh38): ENSG00000171298
EnsemblGeneIds (GRCh37): ENSG00000171298
OMIM: 606800, Gene2Phenotype
GAA is in 17 panels

3 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

Glycogen storage disease II (232300)
Created: 25 Mar 2019, 4:30 p.m.
Cardiomyopathy is a feature in the infantile forms of Pompe disease :Indeed, Pompe (1932) reported this condition as 'idiopathic hypertrophy of the heart,' and 'cardiomegalia glycogenica' is a synonym.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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.

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to GAA. Mode of inheritance for gene GAA was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2019, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to GAA.

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GAA was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list