| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.601 | USP9X | Zornitza Stark Marked gene: USP9X as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.601 | USP9X | Zornitza Stark Gene: usp9x has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.601 | USP9X | Zornitza Stark Classified gene: USP9X as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.601 | USP9X | Zornitza Stark Gene: usp9x has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.600 | USP9X |
Zornitza Stark gene: USP9X was added gene: USP9X was added to Cataract. Sources: Literature Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: USP9X were set to 38099911; 37895297 Phenotypes for gene: USP9X were set to Intellectual developmental disorder, X-linked 99, syndromic, female-restricted, MIM# 300968 Review for gene: USP9X was set to GREEN Added comment: PMID 37895297 reports three unrelated female families with heterozygous loss‑of‑function USP9X variants (splice c.1314+2T>C, nonsense c.121G>T, frameshift c.1603dupA) presenting with Axenfeld–Rieger anomaly, congenital glaucoma, corneal neovascularization and cataract (two cases). PMID 38099911 reports an additional unrelated family with a heterozygous USP9X c.799_802del deletion causing bilateral cataracts, posterior lentiglobus and multiple systemic anomalies. Sources: Literature |
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