Genes in panel

Hereditary neuropathy

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.

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

29 Apr 2019, Gel status: 1

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Cardiomyopathy for gene: GAA Publications for gene GAA were changed from to 24627108

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to GAA.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to GAA.

8 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

4 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

4 May 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for GAA was changed to BIALLELIC, autosomal or pseudoautosomal

4 May 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for GAA was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GAA was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory