| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.234 | COL9A2 | Zornitza Stark Marked gene: COL9A2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.234 | COL9A2 | Zornitza Stark Gene: col9a2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.234 | COL9A2 | Zornitza Stark Classified gene: COL9A2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.234 | COL9A2 | Zornitza Stark Gene: col9a2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.233 | COL9A2 | Zornitza Stark reviewed gene: COL9A2: Rating: RED; Mode of pathogenicity: None; Publications: 31090205, 21671392; Phenotypes: Stickler syndrome, type V, MIM# 614284; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.233 | COL9A2 |
Natalie Tan gene: COL9A2 was added gene: COL9A2 was added to Cataract. Sources: Literature Mode of inheritance for gene: COL9A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL9A2 were set to PMID: 31090205; 21671392; 20686772; 27666725; 15802199; 15710493 Phenotypes for gene: COL9A2 were set to Stickler syndrome, type V, MIM# 614284 Review for gene: COL9A2 was set to GREEN Added comment: Bi-allelic variants have been associated with Stickler syndrome in three unrelated families. Association is supported by multiple animal models. [Modified review by ZS from Deafness_IsolatedAndComplex panel.] Sources: Literature |
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