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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.135 | HIST1H1E |
Achchuthan Shanmugasundram gene: HIST1H1E was added gene: HIST1H1E was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature new-gene-name tags were added to gene: HIST1H1E. Mode of inheritance for gene: HIST1H1E was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: HIST1H1E were set to 36118902; 36980886 Phenotypes for gene: HIST1H1E were set to craniosynostosis, MONDO:0015469 Review for gene: HIST1H1E was set to RED Added comment: A patient with syndromic unilambdoid synostosis was found to harbour a frameshifting variant in HIST1H1E (c.433_434insC; p.Thr146Hisfs*50). The variant is reported as pathogenic for Rahman syndrome in ClinVar and absent from gnomAD (PMID:36118902). Sources: Literature |
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