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  3. JPH2
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Dilated Cardiomyopathy

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)

I don't know

Gene is also associated with HCM.

Several families with DCM and variants in this gene, plus more severe bi-allelic disease reported, animal models.

MODERATE by ClinGen.
Created: 18 May 2021, 8:34 a.m. | Last Modified: 18 May 2021, 8:35 a.m.
Panel Version: 0.133
Comment when marking as ready: Likely founder effect.
Created: 11 May 2020, 10:58 a.m. | Last Modified: 11 May 2020, 10:58 a.m.
Panel Version: 0.36

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Cardiomyopathy, dilated, 2E, MIM# 619492

Publications

Created: 11 May 2020, 10:58 a.m.
Last Modified: 18 May 2021, 8:35 a.m.
Panel version: 1.3

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

2 consanguineous Iranian families with DCM, harbouring homozygous p.(E641*) with healthy carriers reported.
Sources: Literature
Created: 11 May 2020, 6:16 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
dilated cardiomyopathy

Publications

Created: 11 May 2020, 6:16 a.m.

Panel version: 0.35

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cardiomyopathy, dilated, 2E, MIM# 619492
Tags
founder
OMIM
605267
Clinvar variants
Variants in JPH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Aug 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: JPH2 were changed from dilated cardiomyopathy to Cardiomyopathy, dilated, 2E, MIM# 619492

18 May 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: JPH2 were set to PMID: 31227780

18 May 2021, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: JPH2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

18 May 2021, 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).

11 May 2020, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: JPH2.

11 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: jph2 has been classified as Red List (Low Evidence).

11 May 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: jph2 has been classified as Red List (Low Evidence).

11 May 2020, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: JPH2 was added gene: JPH2 was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: JPH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JPH2 were set to PMID: 31227780 Phenotypes for gene: JPH2 were set to dilated cardiomyopathy Review for gene: JPH2 was set to AMBER