Skeletal dysplasia

Gene: JPH1

Green List (high evidence)

Comment on list classification: There are four unrelated patients reported with congenital myopathy and biallelic JPH1 variants. All patients had spine involvement (kyphoscoliosis, scoliosis or lumbar lordosis). Hence, this gene can be promoted to green rating on Skeletal dysplasia panel in the next GMS update.

Created: 28 May 2026, 2:06 p.m. | Last Modified: 28 May 2026, 2:06 p.m.

Panel Version: 9.11

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. Kyphoscoliosis and rigid spine was reported in patient 1, dorsal scoliosis, lumbar lordosis and winged scapulae in patient 2, mild lumbar lordosis in patient 3 and mild scoliosis in patient 4.

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, 12:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

• 39209426