Sudden cardiac death - previous panel
Gene: JPH2

JPH2 (junctophilin 2)
EnsemblGeneIds (GRCh38): ENSG00000149596
EnsemblGeneIds (GRCh37): ENSG00000149596
OMIM: 605267, Gene2Phenotype
JPH2 is in 4 panels

1 review

Ellen McDonagh (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.
Created: 20 Feb 2019, 2:17 p.m.

Created: 20 Feb 2019, 2:17 p.m.

Panel version: Imported from Molecular autopsy panel version 0.86

Details

Mode of Inheritance

Unknown

Sources

Expert Review Amber
London South GLH
London South GLH
Expert Review Amber

Phenotypes

Cardiomyopathy, familial hypertrophic 17,

OMIM

605267

Clinvar variants

Variants in JPH2

Penetrance

None

Publications

Panels with this gene

History Filter Activity

9 Sep 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: JPH2 was added gene: JPH2 was added to Sudden cardiac death. Sources: London South GLH,Expert Review Amber Mode of inheritance for gene: JPH2 was set to Unknown Publications for gene: JPH2 were set to 17476457; 28393127; 17509612 Phenotypes for gene: JPH2 were set to Cardiomyopathy, familial hypertrophic 17,

Sudden cardiac death - previous panel Gene: JPH2