Muscular dystrophy and myopathy_Paediatric
Gene: JPH1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myopathy 25, MIM# 620964
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: OtherCreated: 5 Sep 2024, 1:15 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myopathy MONDO:0019952
Publications
Phenotypes for gene: JPH1 were changed from Congenital myopathy MONDO:0019952 to Congenital myopathy 25, MIM# 620964
Gene: jph1 has been classified as Green List (High Evidence).
Gene: jph1 has been classified as Green List (High Evidence).
Gene: jph1 has been classified as Green List (High Evidence).
Gene: jph1 has been classified as Green List (High Evidence).
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