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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.137 | KMT5B |
Achchuthan Shanmugasundram gene: KMT5B was added gene: KMT5B was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: KMT5B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KMT5B were set to 34429528; 36980886 Phenotypes for gene: KMT5B were set to craniosynostosis, MONDO:0015469 Review for gene: KMT5B was set to RED Added comment: A de novo loss of function variant was identified within the 100kGP craniosynostosis cohort: c.557T>A; p.Leu186* (PMID:34429528). Sources: Literature |
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