Hypertrophic cardiomyopathy_HCM

Gene: JPH2

Amber List (moderate evidence)

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

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

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

History Filter Activity

29 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: jph2 has been classified as Amber List (Moderate Evidence).

29 Jul 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: JPH2 were changed from to Cardiomyopathy, hypertrophic, MIM#613873

29 Jul 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: JPH2 were set to

29 Jul 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: JPH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: jph2 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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