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  3. GAA
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Hereditary neuropathy or pain disorder

Gene: GAA

Red List (low evidence)
GAA (glucosidase alpha, acid)
EnsemblGeneIds (GRCh38): ENSG00000171298
EnsemblGeneIds (GRCh37): ENSG00000171298
OMIM: 606800, Gene2Phenotype
GAA is in 18 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.
Created: 29 Apr 2019, 12:53 p.m.

Panel version: Imported from Hereditary neuropathy panel version 1.63

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

Created: 29 Apr 2019, 12:30 p.m.

Panel version: Imported from Hereditary neuropathy panel version 1.58

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Hereditary neuropathy panel version 0

Richard Scott (Genomics England Curator)

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

Panel version: Imported from Hereditary neuropathy panel version 0

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.
Created: 4 May 2016, 10:03 a.m.

Panel version: Imported from Hereditary neuropathy panel version 0

Alexander Rossor (UCL Institute of Neurology)

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

Panel version: Imported from Hereditary neuropathy panel version 0

Mary Reilly (Institute of Neurology)

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

Panel version: Imported from Hereditary neuropathy panel version 0

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