| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cataract v0.233 | COL9A1 | Zornitza Stark Marked gene: COL9A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.233 | COL9A1 | Zornitza Stark Gene: col9a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.233 | COL9A1 | Zornitza Stark Classified gene: COL9A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.233 | COL9A1 | Zornitza Stark Gene: col9a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.232 | COL9A1 | Zornitza Stark reviewed gene: COL9A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21421862; Phenotypes: Stickler syndrome, type IV, OMIM# 614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.232 | COL9A1 |
Natalie Tan gene: COL9A1 was added gene: COL9A1 was added to Cataract. Sources: Literature Mode of inheritance for gene: COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL9A1 were set to PMID: 21421862; 16909383 Phenotypes for gene: COL9A1 were set to Stickler syndrome, type IV, MIM#614134 Review for gene: COL9A1 was set to GREEN Added comment: At least three families reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||