Activity
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| Congenital myopathy v7.46 | P4HA1 | Ida Ertmanska Classified gene: P4HA1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v7.46 | P4HA1 | Ida Ertmanska Added comment: Comment on list classification: There is only 1 pedigree reported in literature where individuals harboured biallelic P4HA1 variants and presented with a connective tissue disorder. The symptoms had some overlap with EDS, including joint hypermobility, congenital hypotonia / muscle weakness, and contractures, but no evidence of vascular rupture or kyphoscoliosis. P4ha1 null mice are embryonic lethal. Based on available evidence, this gene should be rated Red, until more evidence emerges. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v7.46 | P4HA1 | Ida Ertmanska Gene: p4ha1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v7.45 | P4HA1 |
Ida Ertmanska gene: P4HA1 was added gene: P4HA1 was added to Congenital myopathy. Sources: Literature Mode of inheritance for gene: P4HA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: P4HA1 were set to 17135260; 28419360 Phenotypes for gene: P4HA1 were set to connective tissue disorder, MONDO:0003900 Review for gene: P4HA1 was set to RED Added comment: PMID: 28419360 Zou et al., 2017 Report of 2 sibs with early-onset joint hypermobility, joint contractures, muscle weakness, mild bone dysplasia, as well as high myopia. Biallelic P4HA1 mutations detected: c.1543â+â2 Tâ>âG (predicted to cause exon 12 skipping: p.Ala418_Arg434del) and c.1323_1324insAG, p.Arg362Glyfs*9. Seq method: WES. Variants confirmed in trans. Muscle tissue from P1 and P2 was found to have reduced collagen IV immunoreactivity at the muscle basement membrane. PMID: 17135260 Holster et al., 2007 P4ha1-/- null mice are embryonically lethal with evidence of impaired assembly of collagen IV at the basement membrane, whereas P4ha1+/- mice have no abnormalities Sources: Literature |
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