Congenital myopathy
Gene: JPH1EnsemblGeneIds (GRCh38): ENSG00000104369
EnsemblGeneIds (GRCh37): ENSG00000104369
OMIM: 605266, Gene2Phenotype
JPH1 is in 5 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: There are four unrelated individuals with Congenital myopathy 25 and with biallelic JPH1 variants. Hence, this gene can be promoted to green rating in the next GMS update.Created: 28 May 2026, 10:39 a.m. | Last Modified: 28 May 2026, 10:39 a.m.
Panel Version: 7.34
As reviewed by Anna Sarkozy, PMID:39209426 (2024) reported four unrelated patients with congenital myopathy and they had similar clinical presentation with prominent facial, ocular and bulbar features. The disease onset was in neonatal period and had hypotonia, poor feeding, cleft palate and talipes. Muscle weakness was generalised but prominent in the lower limbs with facial weakness also present. Muscle biopsy from patients showed type 1 myofiber predominance and ultrastructural analysis revealed slightly reduced triads, and structurally abnormal sarcoplasmic reticulum. Four different homozygous loss-of-function variants were reported in these patients either by whole-exome or whole-genome sequencing. JPH1 gene expression was reduced in muscle tissue from one of the patients.
This gene has been associated with relevant phenotypes in OMIM (MIM #620964, last accessed 28 May 2026) and in Gene2Phenotype (with 'moderate' confidence rating on the DD panel).Created: 28 May 2026, 10:37 a.m. | Last Modified: 28 May 2026, 10:37 a.m.
Panel Version: 7.31
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myopathy 25, OMIM:620964; congenital myopathy 25, MONDO:0975808
Publications
Anna Sarkozy (Great Ormond Street Hospital)
causes congenital myopathy with prominent facial and ocular involvement; isease onset was in the neonatal period with hypotonia, poor feeding, cleft palate and talipes. Muscle weakness was generalised but prominent in the lower limbs with facial weakness also presentCreated: 22 May 2026, 1:49 p.m. | Last Modified: 22 May 2026, 1:49 p.m.
Panel Version: 7.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- NHS GMS
- Phenotypes
-
- Congenital myopathy 25, OMIM:620964
- congenital myopathy 25, MONDO:0975808
- Tags
- OMIM
- 605266
- Clinvar variants
- Variants in JPH1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: jph1 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: JPH1 were changed from to Congenital myopathy 25, OMIM:620964; congenital myopathy 25, MONDO:0975808
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: JPH1 were set to
Added Tag, Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_26_promote_green tag was added to gene: JPH1. Tag Q2_26_NHS_review tag was added to gene: JPH1.
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: jph1 has been removed from the panel.
Created, Added New Source, Set mode of inheritance
Arina Puzriakova (Genomics England Curator)gene: JPH1 was added gene: JPH1 was added to Congenital myopathy. Sources: NHS GMS Mode of inheritance for gene: JPH1 was set to BIALLELIC, autosomal or pseudoautosomal