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Hereditary neuropathy NOT PMP22 copy number

Gene: GAA

Red List (low evidence)

GAA (glucosidase alpha, acid)
EnsemblGeneIds (GRCh38): ENSG00000171298
EnsemblGeneIds (GRCh37): ENSG00000171298
OMIM: 606800, Gene2Phenotype
GAA is in 19 panels

7 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.

Natalie Forrester (SWGLH - Bristol Genetics)

Red List (low evidence)

Single paper, weak. PMID: 24627108 - weak evidence
Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy

Publications

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Richard Scott (Genomics England Curator)

Comment on list classification: Causes GSDII
Created: 8 Jul 2016, 3:59 a.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red due to review. Is a confirmed DD gene for glycogen storage disease Type II.
Created: 4 May 2016, 11:19 a.m.
Comment on mode of inheritance: For Glycogen storage disease II (source: OMIM and G2P).
Created: 4 May 2016, 10:03 a.m.

Alexander Rossor (UCL Institute of Neurology)

Acid maltase deficiency
Created: 9 Dec 2015, 8:49 a.m.

Mary Reilly (Institute of Neurology)

Acid maltase deficiency
Created: 8 Dec 2015, 3:05 p.m.

History Filter Activity

5 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: GAA was added gene: GAA was added to Hereditary neuropathy NOT PMP22 copy number. Sources: Emory Genetics Laboratory,South West GLH,Expert Review Red,NHS GMS Mode of inheritance for gene: GAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GAA were set to 24627108 Phenotypes for gene: GAA were set to Cardiomyopathy