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Molecular autopsy

Gene: JPH2

Amber List (moderate evidence)
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: 0.86

Details

Mode of Inheritance
Unknown
Sources
  • 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

20 Feb 2019, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to JPH2.

20 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: JPH2 was added gene: JPH2 was added to Molecular autopsy. Sources: 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,