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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.159 | SMAD2 |
Achchuthan Shanmugasundram gene: SMAD2 was added gene: SMAD2 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMAD2 were set to 34429528; 36980886 Phenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome 6, OMIM:619656 Review for gene: SMAD2 was set to RED Added comment: A de novo variant in SMAD2 (c.1223T>C; p.Leu408Pro) was identified in an individual within the craniosynostosis cohort of the 100k genomes project. The variant was absent from gnomAD and was predicted to affect a residue within a functional domain (PMID:34429528). Sources: Literature |
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