Hereditary neuropathy or pain disorder
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.
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