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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.103 | ACVR2A |
Achchuthan Shanmugasundram gene: ACVR2A was added gene: ACVR2A was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: ACVR2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACVR2A were set to 35997807; 36980886 Phenotypes for gene: ACVR2A were set to craniosynostosis, MONDO:0015469 Review for gene: ACVR2A was set to RED Added comment: PMID:35997807 reported a cohort of patients with lambdoid synostosis, where a de novo variant (p.Thr63Ala) was identified in ACVR2A. Hence, this gene should be added with a red rating. Sources: Literature |
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