Hypertrophic cardiomyopathy_HCM
Gene: JPH2Comment when marking as ready: Note one of the variants p.Gly505Ser is present in >500 individuals in gnomad, including 7 homozygotes.Created: 29 Jul 2020, 6:16 a.m. | Last Modified: 29 Jul 2020, 6:16 a.m.
Panel Version: 0.98
Moderate evidence by ClinGen working group.
Via ClinGen: Associated with hypertrophic cardiomyopathy in 16 probands in 5 publications with some functional evidence in support (expression studies, in vitro assays, animal models).
More recently a novel missense variant was observed in an 86-year-old man, diagnosed with hypertrophic cardiomyopathy, in whom echocardiography and cardiac magnetic resonance imaging strongly suggested amyloidosis to be the underlying cause.Created: 29 Jul 2020, 12:06 a.m. | Last Modified: 29 Jul 2020, 12:06 a.m.
Panel Version: 0.89
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cardiomyopathy, hypertrophic, MIM#613873
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: jph2 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: JPH2 were changed from to Cardiomyopathy, hypertrophic, MIM#613873
Publications for gene: JPH2 were set to
Mode of inheritance for gene: JPH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: jph2 has been classified as Amber List (Moderate Evidence).
gene: JPH2 was added gene: JPH2 was added to Hypertrophic cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: JPH2 was set to Unknown