Molecular autopsy
Gene: GLA
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Gene currently tested on Manchester cardiac gene panel. 966 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: definitive association with Fabry disease, atypical variant involves HCM (accessed 29/01/2019).Created: 14 Feb 2019, 1:38 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Fabry disease (301500); Fabry disease, cardiac variant (301500)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Source London South GLH was added to GLA.
Source North West GLH was added to GLA. Added phenotypes Fabry disease, cardiac variant (301500); Fabry disease (301500) for gene: GLA Publications for gene GLA were changed from 27604308 to 27532257; 28369730
Added phenotypes Fabry Disease; Fabry disease, cardiac variant, 301500; Fabry disease (Sphingolipidoses); Fabry disease, 301500 for gene: GLA
gene: GLA was added gene: GLA was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: GLA were set to 27604308 Phenotypes for gene: GLA were set to syndromic HCM; Fabry Disease; Fabry disease, cardiac variant, 301500; Fabry disease (Sphingolipidoses); Fabry disease, 301500