| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Rare syndromic craniosynostosis or isolated multisuture synostosis v4.120 | EHMT1 |
Achchuthan Shanmugasundram gene: EHMT1 was added gene: EHMT1 was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: EHMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: EHMT1 were set to 33288889; 36980886 Phenotypes for gene: EHMT1 were set to craniosynostosis, MONDO:0015469 Review for gene: EHMT1 was set to RED Added comment: A de novo splicing variant was identified in EHMT1 (c.2018+1G>C) within the Norwegian cohort with syndromic craniosynostosis (PMID:33288889). Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||