Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Structural eye disease v0.76 | COL11A1 | Nicola Ragge reviewed gene: COL11A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Stickler syndrome, type II, Marshall syndrome, 604841, 154780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | COL11A1 | Ivone Leong reviewed gene: COL11A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Stickler syndrome, type II, 604841, Marshall syndrome, 154780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | COL11A1 |
Ivone Leong Source NHS GMS was added to COL11A1. Mode of inheritance for gene COL11A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Marshall syndrome, 154780; Stickler syndrome, type II, 604841 for gene: COL11A1 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.2 | COL11A1 |
Ellen McDonagh gene: COL11A1 was added gene: COL11A1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: COL11A1 was set to Phenotypes for gene: COL11A1 were set to Eye Disorders |