DDG2P
Gene: JPH1

JPH1 (junctophilin 1)
EnsemblGeneIds (GRCh38): ENSG00000104369
EnsemblGeneIds (GRCh37): ENSG00000104369
OMIM: 605266, Gene2Phenotype
JPH1 is in 2 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease JPH1-related congenital myopathy with ptosis, OMIM:620964 is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 39209426).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.

Panel Version: 5.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
JPH1-related congenital myopathy with ptosis, OMIM:620964

Publications

39209426

Created: 21 Feb 2025, 2:39 p.m.
Last Modified: 21 Feb 2025, 2:39 p.m.
Panel version: 5.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

JPH1-related congenital myopathy with ptosis, OMIM:620964

OMIM

605266

Clinvar variants

Variants in JPH1

Penetrance

None

Publications

39209426

Panels with this gene

History Filter Activity

21 Feb 2025, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: JPH1 was added gene: JPH1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: JPH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: JPH1 were set to 39209426 Phenotypes for gene: JPH1 were set to JPH1-related congenital myopathy with ptosis, OMIM:620964

DDG2P Gene: JPH1