| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Structural eye disease v1.84 | COL9A1 | Arina Puzriakova Phenotypes for gene: COL9A1 were changed from Stickler syndrome, type IV, 614134; Eye Disorders to Stickler syndrome, type IV, OMIM:614134 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.76 | COL9A1 | Nicola Ragge reviewed gene: COL9A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Stickler syndrome, type IV, 614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | COL9A1 | Ivone Leong reviewed gene: COL9A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Stickler syndrome, type IV, 614134; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | COL9A1 |
Ivone Leong Source NHS GMS was added to COL9A1. Mode of inheritance for gene COL9A1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Stickler syndrome, type IV, 614134 for gene: COL9A1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.2 | COL9A1 |
Ellen McDonagh gene: COL9A1 was added gene: COL9A1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: COL9A1 was set to Phenotypes for gene: COL9A1 were set to Eye Disorders |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||