| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Craniosynostosis v1.82 | KMT5B | Zornitza Stark Marked gene: KMT5B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.82 | KMT5B | Zornitza Stark Gene: kmt5b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.82 | KMT5B | Zornitza Stark Classified gene: KMT5B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.82 | KMT5B | Zornitza Stark Gene: kmt5b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.81 | KMT5B | Zornitza Stark edited their review of gene: KMT5B: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.81 | KMT5B |
Zornitza Stark gene: KMT5B was added gene: KMT5B was added to Craniosynostosis. Sources: Literature Mode of inheritance for gene: KMT5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KMT5B were set to 37086723 Phenotypes for gene: KMT5B were set to Intellectual developmental disorder, autosomal dominant 51 MIM# 617788 Added comment: PMID 37086723 reports 3 individuals from 3 unrelated families with heterozygous de novo loss‑of‑function (2 frameshift) or missense KMT5B variants presenting with syndromic craniosynostosis (metopic) with congenital onset. Variants are absent from population databases; de novo segregation confirmed. Sources: Literature |
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