Dilated Cardiomyopathy
Gene: JPH2
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
2 consanguineous Iranian families with DCM, harbouring homozygous p.(E641*) with healthy carriers reported.
Sources: LiteratureCreated: 11 May 2020, 6:16 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
dilated cardiomyopathy
Publications
Phenotypes for gene: JPH2 were changed from dilated cardiomyopathy to Cardiomyopathy, dilated, 2E, MIM# 619492
Publications for gene: JPH2 were set to PMID: 31227780
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
Gene: jph2 has been classified as Amber List (Moderate Evidence).
Tag founder tag was added to gene: JPH2.
Gene: jph2 has been classified as Red List (Low Evidence).
Gene: jph2 has been classified as Red List (Low Evidence).
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