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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.114 | COL11A1 |
Achchuthan Shanmugasundram gene: COL11A1 was added gene: COL11A1 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL11A1 were set to 34429528; 36980886 Phenotypes for gene: COL11A1 were set to craniosynostosis, MONDO:0015469 Review for gene: COL11A1 was set to RED Added comment: A de novo loss of function variant (c.2852+5G>A) was identified in an individual with craniosynostosis and a hearing impairment from the UK 100k genomes project (PMID:34429528) Sources: Literature |
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