Activity
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| Skeletal dysplasia v9.11 | JPH1 | Achchuthan Shanmugasundram Tag Q2_26_promote_green tag was added to gene: JPH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v9.11 | JPH1 | Achchuthan Shanmugasundram Classified gene: JPH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v9.11 | JPH1 | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v9.11 | JPH1 | Achchuthan Shanmugasundram Gene: jph1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v9.10 | JPH1 | Achchuthan Shanmugasundram edited their review of gene: JPH1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v9.10 | JPH1 |
Achchuthan Shanmugasundram gene: JPH1 was added gene: JPH1 was added to Skeletal dysplasia. Sources: Literature 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 25, OMIM:620964; congenital myopathy 25, MONDO:0975808 Review for gene: JPH1 was set to AMBER Added comment: 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 |
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