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| Craniosynostosis v1.62 | KAT6B | Zornitza Stark Marked gene: KAT6B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.62 | KAT6B | Zornitza Stark Gene: kat6b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.62 | KAT6B | Zornitza Stark Classified gene: KAT6B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.62 | KAT6B | Zornitza Stark Gene: kat6b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Craniosynostosis v1.61 | KAT6B |
Yetong Chen gene: KAT6B was added gene: KAT6B was added to Craniosynostosis. Sources: Expert Review Mode of inheritance for gene: KAT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KAT6B were set to 33288889; 28696035 Phenotypes for gene: KAT6B were set to SBBYSS syndrome, MIM# 603736 Review for gene: KAT6B was set to GREEN Added comment: Three unrelated patients are reported. PMID 33288889 reports a patient with a KAT6B variant (c.3769_3772del, p.Lys1258Glyfs*13) who was diagnosed with craniosynostosis. PMID 28696035 reports 2 patients with different monoallelic KAT6B variants (c.4572dupT, p.Thr1525Tyrfs*16 and c.4205_4206delCT, p.Ser1402Cysfs*5, respectively) who had sagittal craniosynostosis. Sources: Expert Review |
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