Likely inborn error of metabolism - targeted testing not possible
Gene: PRKAG2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Rhabdomyolysis and metabolic muscle disorders
Publications
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 9 variants reported in Cardiomyopathy, hypertrophic 6 600858, at least 2 variants in 4 cases of Glycogen storage disease of heart, lethal congenital 261740 and at least 1 variant in a three generation family with Wolff-Parkinson-White syndrome 194200Created: 17 Jan 2017, 4:51 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Rhabdomyolysis and metabolic muscle disorders
Source NHS GMS was added to PRKAG2. Source London North GLH was added to PRKAG2.
Phenotypes for gene: PRKAG2 were changed from to Cardiomyopathy, hypertrophic 6, 600858; Glycogen storage disease of heart, lethal congenital, 261740; Wolff-Parkinson-White syndrome, 194200
Ellen McDonagh: Comment on mode of pathogenici
gene: PRKAG2 was added gene: PRKAG2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKAG2 were set to 194200