Brugada syndromeGene: CAV3
Cardiomyopathy, familial hypertrophic (OMIM 192600), Creatine phosphokinase, elevated serum (OMIM 123320), Long QT syndrome 9 (OMIM 611818), Myopathy, distal, Tateyama type (OMIM 614321), Rippling muscle disease (OMIM 606072).
Created: 25 Mar 2019, 4:30 p.m.
NO evidence for Brugada Syndrome. More assoc with LQT but even that is weak. PMID: 26132555. https://www.ncbi.nlm.nih.gov/pubmed/17060380?dopt=Abstract. https://www.ncbi.nlm.nih.gov/pubmed/24021552
Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Not on Manchester diagnostic panel
Created: 11 Feb 2016, 12:20 p.m.
Phenotypes for gene: CAV3 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Source South West GLH was added to CAV3. Mode of inheritance for gene CAV3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Red List (Low Evidence).
CAV3 was added to Brugada syndromepanel. Sources: Expert list