Cardiomyopathies - including childhood onsetGene: GLA
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
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.
Fabry disease; Limb pain, angiokeratom; HCM is a late complication in adults, also found in female carriers; HCM
Fabry disease OMIM# 301500; Fabry disease, cardiac variant OMIM#301500
Created: 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 NHS GMS was added to GLA. Source Expert Review Amber was added to GLA. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
gene: GLA was added gene: GLA was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,MetBioNet,London South GLH,South West GLH 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, 301500; HCM is a late complication in adults, also found in female carriers; Limb pain, angiokeratom; syndromic HCM; Fabry disease, cardiac variant, 301500; Fabry disease (Sphingolipidoses); Fabry Disease; Fabry disease; HCM