Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: GAA

Green List (high evidence)

GAA (glucosidase alpha, acid)
EnsemblGeneIds (GRCh38): ENSG00000171298
EnsemblGeneIds (GRCh37): ENSG00000171298
OMIM: 606800, Gene2Phenotype
GAA is in 14 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Metabolic condition with phenotypic overlap.
Created: 1 Jul 2020, 8:25 a.m. | Last Modified: 1 Jul 2020, 8:25 a.m.
Panel Version: 0.50

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 29880332 - 16 adult patients (9 families) with Pombe disease. Proximal muscle weakness (12/16) and elevated CK were reported. Muscle biopsy showed vacuoles in 4/9 patients. Patients were described as having LGMD.
Sources: Expert list
Created: 1 Jul 2020, 3:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease II 232300

Publications

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Well reported gene causing Pompe's disease presenting as a metabolic myopathy with multiorgan dysfunction condition. Distinct genotype-phenotype correlation has been established, with age of onset and severity depending on residual GAA activity.
Created: 17 Jun 2020, 6:49 a.m. | Last Modified: 17 Jun 2020, 6:49 a.m.
Panel Version: 0.72

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease II (MIM#232300)

Publications

History Filter Activity

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Jul 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: GAA was added gene: GAA was added to Limb Girdle Muscular Dystrophy. Sources: Expert list Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAA were set to PMID: 29880332 Phenotypes for gene: GAA were set to Glycogen storage disease II 232300 Review for gene: GAA was set to GREEN