Structural eye disease
Gene: COL2A1
Zechi-Ceide: 1 case with coloboma. Meredith: one case with lens colobomaCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Publications
Promoted from red to amber based on the expert review provided.Created: 25 Apr 2019, 10:04 a.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Zechi-Ceide: 1 case with coloboma. Meredith: one case with lens colobomaCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Publications
Source Expert Review Amber was added to COL2A1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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
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