Clefting

Gene: JPH1

I don't know

Comment on list classification: Although there are four unrelated patients reported with congenital myopathy and biallelic JPH1 variants, only two of them were reported with cleft palate as one of the phenotypes. Hence, this gene can only be rated amber with the current evidence.

Created: 28 May 2026, 2:22 p.m. | Last Modified: 28 May 2026, 2:22 p.m.

Panel Version: 7.5

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. Four different homozygous loss-of-function variants were reported in these patients either by whole-exome or whole-genome sequencing. Cleft palate was reported in two of these patients and arched palate in one.

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).
Sources: Literature

Created: 28 May 2026, 2:20 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myopathy 25, OMIM:620964; congenital myopathy 25, MONDO:0975808

Publications

• 39209426