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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.103 | ACVRL1 |
Achchuthan Shanmugasundram changed review comment from: PMID:35997807 reported a cohort of patients with lambdoid synostosis, where a de novo variant (p.Val228Ile) in was identified in ACVRL1. Hence, this gene should be added with a red rating. Sources: Literature; to: PMID:35997807 reported a cohort of patients with lambdoid synostosis, where a de novo variant (p.Val228Ile) was identified in ACVRL1. Hence, this gene should be added with a red rating. Sources: Literature |
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.102 | ACVRL1 | Achchuthan Shanmugasundram Phenotypes for gene: ACVRL1 were changed from to craniosynostosis, MONDO:0015469 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.101 | ACVRL1 | Achchuthan Shanmugasundram edited their review of gene: ACVRL1: Changed phenotypes to: craniosynostosis, MONDO:0015469 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.101 | ACVRL1 |
Achchuthan Shanmugasundram gene: ACVRL1 was added gene: ACVRL1 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ACVRL1 were set to 35997807; 36980886 Review for gene: ACVRL1 was set to RED Added comment: PMID:35997807 reported a cohort of patients with lambdoid synostosis, where a de novo variant (p.Val228Ile) in was identified in ACVRL1. Hence, this gene should be added with a red rating. Sources: Literature |
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