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  3. JPH1
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Congenital myopathy

Gene: JPH1

No list
JPH1 (junctophilin 1)
EnsemblGeneIds (GRCh38): ENSG00000104369
EnsemblGeneIds (GRCh37): ENSG00000104369
OMIM: 605266, Gene2Phenotype
JPH1 is in 3 panels

1 review

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

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 present
Created: 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

Created: 22 May 2026, 1:49 p.m.
Last Modified: 22 May 2026, 1:49 p.m.
Panel version: 7.14

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • NHS GMS
OMIM
605266
Clinvar variants
Variants in JPH1
Penetrance
None
Panels with this gene

History Filter Activity

22 May 2026, Gel status: 0

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: jph1 has been removed from the panel.

22 May 2026, Gel status: 1

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