Previous cardiomyopathies - including childhood onset
Gene: GLA
This gene was included in Table 1 for a diagnostic test from the MetBioNet guideline - see publications field for URL to the guideline.Created: 18 Apr 2019, 11:53 a.m.
Phenotypes
Fabry disease; Limb pain, angiokeratom; HCM is a late complication in adults, also found in female carriers; HCM
Publications
Fabry disease OMIM# 301500; Fabry disease, cardiac variant OMIM#301500Created: 25 Mar 2019, 4:30 p.m.
Classic Fabry disease has a paediatric onset but cardiac symptoms develop usually in adulthood. Cardiac features are not the presenting features in early onset Fabry disease. There is cardiac variant disease.Created: 25 Mar 2019, 4:27 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)
Variants in this GENE are reported as part of current diagnostic practice
Source MetBioNet was added to GLA. Added phenotypes HCM; HCM is a late complication in adults, also found in female carriers; Limb pain, angiokeratom; Fabry disease for gene: GLA
Source London South GLH was added to GLA.
Source South West GLH was added to GLA.
Eleanor Williams: Note: no phenotype in the sour
Added phenotypes syndromic HCM for gene: GLA
gene: GLA was added gene: GLA was added to Cardiomyopathies - including childhood onset. 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 Fabry Disease; Fabry disease, cardiac variant, 301500; Fabry disease (Sphingolipidoses); Fabry disease, 301500