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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.106 | ARAP3 |
Achchuthan Shanmugasundram gene: ARAP3 was added gene: ARAP3 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: ARAP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ARAP3 were set to 28808027; 36980886 Phenotypes for gene: ARAP3 were set to craniosynostosis, MONDO:0015469 Review for gene: ARAP3 was set to RED Added comment: PMID:28808027 reported an individual identified with a de novo variant in ARAP3 (IVS6+1delGT) and presenting with metopic synostosis. As there is only one case reported so far, this gene should be rated red. Sources: Literature |
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