Hereditary neuropathy
Gene: GAA
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.
Single paper, weak. PMID: 24627108 - weak evidenceCreated: 29 Apr 2019, 12:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cardiomyopathy
Publications
Comment on list classification: Causes GSDIICreated: 8 Jul 2016, 3:59 a.m.
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.
Acid maltase deficiencyCreated: 9 Dec 2015, 8:49 a.m.
Acid maltase deficiencyCreated: 8 Dec 2015, 3:05 p.m.
Added phenotypes Cardiomyopathy for gene: GAA Publications for gene GAA were changed from to 24627108
Source NHS GMS was added to GAA.
Source South West GLH was added to GAA.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Mode of inheritance for GAA was changed to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for GAA was changed to BIALLELIC, autosomal or pseudoautosomal
GAA was added to Charcot-Marie-Tooth diseasepanel. Sources: Emory Genetics Laboratory