Hypertrophic cardiomyopathy_HCM
Gene: JPH2

JPH2 (junctophilin 2)
EnsemblGeneIds (GRCh38): ENSG00000149596
EnsemblGeneIds (GRCh37): ENSG00000149596
OMIM: 605267, Gene2Phenotype
JPH2 is in 6 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment 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

Created: 29 Jul 2020, 6:16 a.m.
Last Modified: 29 Jul 2020, 6:16 a.m.
Panel version: 0.98

Paul De Fazio (Victorian Clinical Genetics Services)

I don't know

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

Created: 29 Jul 2020, 12:06 a.m.
Last Modified: 29 Jul 2020, 12:06 a.m.
Panel version: 0.89

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Amber
Victorian Clinical Genetics Services

Phenotypes

Cardiomyopathy, hypertrophic, MIM#613873

OMIM

605267

Clinvar variants

Variants in JPH2

Penetrance

None

Publications

Panels with this gene