Previous cardiomyopathies - including childhood onset
Gene: PRKAG2
Cardiomyopathy, hypertrophic 6 OMIM#600858; Glycogen storage disease of heart, lethal congenital OMIM#261740; Wolff-Parkinson-White syndrome OMIM#194200Created: 25 Mar 2019, 4:30 p.m.
Well characterised gene. Alfares et al (2015) Genet Med 17(11):880. Walsh et al (2017) Genet Med 19:192. OMIM: all adult onset.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
Source London South GLH was added to PRKAG2.
Source South West GLH was added to PRKAG2. Mode of inheritance for gene PRKAG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rating Changed from Green List (high evidence) to Green List (high evidence)
Sarah Leigh: Associated with relevant pheno
Mode of inheritance for gene: PRKAG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: prkag2 has been classified as Green List (High Evidence).
Source Expert Review Red was added to PRKAG2. Mode of inheritance for gene PRKAG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown Rating Changed from Green List (high evidence) to Red List (low evidence)
Mode of inheritance for gene PRKAG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene PRKAG2 were changed from to 194200
gene: PRKAG2 was added gene: PRKAG2 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Green Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRKAG2 were set to Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome; Cardiomyopathy, familial hypertrophic 6,; syndromic HCM