Progressive cardiac conduction disease
Gene: GLA
Submitted on behalf of the GMS Cardiology specialist group. This gene did not achieve a consensus Green rating; however, the group agreed that the existing evidence (published and in-house data) was sufficient to support inclusion in this panel.Created: 9 Dec 2019, 1:19 p.m. | Last Modified: 9 Dec 2019, 1:19 p.m.
Panel Version: 0.46
New gene 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, 10:38 a.m. | Last Modified: 2 Dec 2019, 10:38 a.m.
Panel Version: 0.30
Phenotypes for gene: GLA were changed from Fabry disease, cardiac variant, 301500 to Fabry disease, cardiac variant, OMIM:301500
Source Expert Review Green was added to GLA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: GLA were changed from to Fabry disease, cardiac variant, 301500
gene: GLA was added gene: GLA was added to Progressive cardiac conduction disease. Sources: NHS GMS,Expert Review Amber 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)