| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.568 | KIAA1109 | Zornitza Stark Marked gene: KIAA1109 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.568 | KIAA1109 | Zornitza Stark Gene: kiaa1109 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.568 | KIAA1109 | Zornitza Stark Classified gene: KIAA1109 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.568 | KIAA1109 | Zornitza Stark Gene: kiaa1109 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.567 | KIAA1109 |
Zornitza Stark gene: KIAA1109 was added gene: KIAA1109 was added to Cataract. Sources: Literature Mode of inheritance for gene: KIAA1109 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIAA1109 were set to 29290337 Phenotypes for gene: KIAA1109 were set to Alkuraya-Kucinskas syndrome, MIM# 617822 Review for gene: KIAA1109 was set to GREEN Added comment: PMID 29290337 reports 19 individuals from 10 unrelated families with autosomal‑recessive biallelic loss‑of‑function or hypomorphic missense variants in KIAA1109. Core features include severe brain malformations, arthrogryposis, microphthalmia and bilateral congenital cataract, plus cardiac, renal and limb anomalies. Functional studies in mouse, Drosophila and zebrafish demonstrate loss‑of‑function phenotypes that recapitulate the human disorder, supporting a loss‑of‑function (biallelic) disease mechanism. Sources: Literature |
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