Glaucoma (developmental)
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
27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
COL2A1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory