Activity
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4 actions
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| Clefting v7.5 | JPH1 | Achchuthan Shanmugasundram Classified gene: JPH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v7.5 | JPH1 | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v7.5 | JPH1 | Achchuthan Shanmugasundram Gene: jph1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Clefting v7.4 | JPH1 |
Achchuthan Shanmugasundram gene: JPH1 was added gene: JPH1 was added to Clefting. 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. 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 |
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