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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.156 | SCN8A |
Achchuthan Shanmugasundram changed review comment from: A heterozygous duplication involving SCN8A was identified in an individual with hearing impairment, hypermobility, intellectual disability, ventricular septal defect and craniosynostosis (c.3924dup; p.Arg1309Thrfs*3) (PMID:34429528) Sources: Literature; to: A heterozygous duplication involving SCN8A was identified in an individual with hearing impairment, hypermobility, intellectual disability, ventricular septal defect and craniosynostosis (c.3924dup; p.Arg1309Thrfs*3) (PMID:34429528). Sources: Literature |
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.156 | SCN8A |
Achchuthan Shanmugasundram gene: SCN8A was added gene: SCN8A was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SCN8A were set to 34429528; 36980886 Phenotypes for gene: SCN8A were set to craniosynostosis, MONDO:0015469 Review for gene: SCN8A was set to RED Added comment: A heterozygous duplication involving SCN8A was identified in an individual with hearing impairment, hypermobility, intellectual disability, ventricular septal defect and craniosynostosis (c.3924dup; p.Arg1309Thrfs*3) (PMID:34429528) Sources: Literature |
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