Cardiomyopathies - including childhood onsetGene: MYL3
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Green on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Cardiomyopathy, hypertrophic, 8 OMIM#608751
Created: 25 Mar 2019, 4:30 p.m.
26 variants listed as DM on HGMD, mainly HCM. Mainly adult onset but Andersen Biochemistry Research International Volume 2012, Article ID 685108: looked at a family with a variant where sudden death occurred in a 19 year old suggesting early onset disease.
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
Mode of inheritance for gene: MYL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Source NHS GMS was added to MYL3.
gene: MYL3 was added gene: MYL3 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green,London South GLH,South West GLH Mode of inheritance for gene: MYL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MYL3 were set to Cardiomyopathy, familial hypertrophic, 8,