| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Structural eye disease v0.76 | COL2A1 | Nicola Ragge reviewed gene: COL2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 18541977, 17347327; Phenotypes: Vitreoretinopathy with phalangeal epiphyseal dysplasia, Stickler syndrome, type I, Epiphyseal dysplasia, multiple, with myopia and deafness, Kniest dysplasia, SED congenita, Stickler sydrome, type I, nonsyndromic ocular, , , 108300, 156550, 609508; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.75 | COL2A1 | Ivone Leong commented on gene: COL2A1: Promoted from red to amber based on the expert review provided. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.74 | COL2A1 |
Ivone Leong Source Expert Review Amber was added to COL2A1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | COL2A1 | Ivone Leong reviewed gene: COL2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 18541977, 17347327; Phenotypes: Vitreoretinopathy with phalangeal epiphyseal dysplasia, Stickler syndrome, type I, 108300, Epiphyseal dysplasia, multiple, with myopia and deafness, Kniest dysplasia, 156550, SED congenita, Stickler sydrome, type I, nonsyndromic ocular, 609508; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | COL2A1 |
Ivone Leong Source NHS GMS was added to COL2A1. Mode of inheritance for gene COL2A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Epiphyseal dysplasia, multiple, with myopia and deafness; Kniest dysplasia, 156550; SED congenita; Stickler syndrome, type I, 108300; Stickler sydrome, type I, nonsyndromic ocular, 609508; Vitreoretinopathy with phalangeal epiphyseal dysplasia for gene: COL2A1 Publications for gene COL2A1 were changed from to 18541977, 17347327 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.2 | COL2A1 |
Ellen McDonagh gene: COL2A1 was added gene: COL2A1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: COL2A1 was set to Phenotypes for gene: COL2A1 were set to Eye Disorders |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||