Syndromic Retinopathy

Gene: COL2A1

Green List (high evidence)

Missense variants affecting glycine residue exert dom-neg effect and is commonly associated with spondyloepiphyseal dysplasia (SED)

Kniest dysplasia is attributed to exon skipping due to splice‐site mutations

PTC variants resul tin in haploinsufficiency associated with Stickler Syndrome, with variants in exon 2 typically associated with the nonsyndromic ocular phenotype (McAlinden 2008, Deng 2018, Hoornaert 2010)

Created: 28 Feb 2020, 2:25 a.m. | Last Modified: 28 Feb 2020, 2:25 a.m.

Panel Version: 0.1473

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Achondrogenesis, type II or hypochondrogenesis 200610; Avascular necrosis of the femoral head 608805; Czech dysplasia 609162; Epiphyseal dysplasia, multiple, with myopia and deafness 132450; Kniest dysplasia 156550; Legg-Calve-Perthes disease 150600; Osteoarthritis with mild chondrodysplasia 604864; Platyspondylic skeletal dysplasia, Torrance type 151210; SED congenita 183900; SMED Strudwick type 184250; Spondyloepiphyseal dysplasia, Stanescu type 616583; Spondyloperipheral dysplasia 271700; Stickler sydrome, type I, nonsyndromic ocular 609508; Stickler syndrome, type I 108300; Vitreoretinopathy with phalangeal epiphyseal dysplasia

Publications

• PMID: 15895462
• 17721977
• 27234559
• 20179744

Variants in this GENE are reported as part of current diagnostic practice