| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Craniosynostosis v1.84 | CHD3 | Zornitza Stark Marked gene: CHD3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.84 | CHD3 | Zornitza Stark Gene: chd3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.84 | CHD3 | Zornitza Stark Classified gene: CHD3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.84 | CHD3 | Zornitza Stark Gene: chd3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.83 | CHD3 |
Zornitza Stark gene: CHD3 was added gene: CHD3 was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: CHD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD3 were set to 37086723 Phenotypes for gene: CHD3 were set to Snijders Blok-Campeau syndrome, MIM#618205 Review for gene: CHD3 was set to GREEN Added comment: PMID 37086723 reports three unrelated individuals with de novo heterozygous missense CHD3 variants in the helicase domain causing syndromic craniosynostosis (metopic/sagittal) with congenital onset. The variants are absent from population databases, segregation is confirmed de novo, and the paper identifies CHD3 as one of 13 genome‑wide significant craniosynostosis genes. Sources: Literature |
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