Muscular dystrophy and myopathy_Paediatric

Gene: JPH1

Green List (high evidence)

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myopathy 25, MIM# 620964

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

4 unrelated probands presented with congenital myopathy with facial weakness and ocular involvement. All individuals had presence of 4 different LoF variants identified in JPH1.

p.(Asp125Thrfs*30), p.(Tyr118*), p.(Leu580Trpfs*16) and p.(Glu504Serfs*3) - all variants were absent from gnomADv4.1
Sources: Other
Created: 5 Sep 2024, 1:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myopathy MONDO:0019952

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital myopathy 25, MIM# 620964
OMIM
605266
Clinvar variants
Variants in JPH1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Sep 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: JPH1 were changed from Congenital myopathy MONDO:0019952 to Congenital myopathy 25, MIM# 620964

5 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: jph1 has been classified as Green List (High Evidence).

5 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: jph1 has been classified as Green List (High Evidence).

5 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: jph1 has been classified as Green List (High Evidence).

5 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: jph1 has been classified as Green List (High Evidence).

5 Sep 2024, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: JPH1 was added gene: JPH1 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Other 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 Congenital myopathy MONDO:0019952 Review for gene: JPH1 was set to GREEN