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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.129 | GLI2 |
Achchuthan Shanmugasundram gene: GLI2 was added gene: GLI2 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GLI2 were set to 31292255; 36980886 Phenotypes for gene: GLI2 were set to craniosynostosis, MONDO:0015469 Review for gene: GLI2 was set to RED Added comment: A de novo GLI2 variant (p.Ala551Thr) was identified in an individual with syndromic craniosynostosis (PMID:31292255). Sources: Literature |
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