Severe Paediatric Disorders
Gene: COL2A1
Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: COL2A1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Achondrogenesis, type II or hypochondrogenesis, 200610 (3) | Avascular necrosis of the femoral head, 608805 (3) | Czech dysplasia, 609162 (3) | Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3) | Kniest dysplasia, 156550 (3) | Legg-Calve-Perthes disease, 150600 (3) | Osteoarthritis with mild chondrodysplasia, 604864 (3) | Platyspondylic skeletal dysplasia, Torrance type, 151210 (3) | SED congenita, 183900 (3) | SMED Strudwick type, 184250 (3) | Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3) | Spondyloperipheral dysplasia, 271700 (3) | Stickler sydrome, type I, nonsyndromic ocular, 609508 (3) | Stickler syndrome, type I, 108300 (3) | Vitreoretinopathy with phalangeal epiphyseal dysplasia (3); Mode of inheritance: Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | Autosomal dominant | NDCreated: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 p.m.
Panel Version: 0.12
Mode of inheritance for gene COL2A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene COL2A1 were updated from to 30847515
Added phenotypes Achondrogenesis, type II or hypochondrogenesis, 200610; Spondyloperipheral dysplasia, 271700; SMED Strudwick type, 184250; Stickler sydrome, type I, nonsyndromic ocular, 609508; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Kniest dysplasia, 156550; SED congenita, 183900; Czech dysplasia, 609162; Platyspondylic skeletal dysplasia, Torrance type, 151210; Osteoarthritis with mild chondrodysplasia, 604864; Spondyloepiphyseal dysplasia, Stanescu type, 616583; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450; Legg-Calve-Perthes disease, 150600; Stickler syndrome, type I, 108300; Avascular necrosis of the femoral head, 608805 for gene: COL2A1
Added phenotypes Achondrogenesis, type II or hypochondrogenesis, 200610; Spondyloperipheral dysplasia, 271700; SMED Strudwick type, 184250; Stickler sydrome, type I, nonsyndromic ocular, 609508; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Kniest dysplasia, 156550; SED congenita, 183900; Czech dysplasia, 609162; Platyspondylic skeletal dysplasia, Torrance type, 151210; Osteoarthritis with mild chondrodysplasia, 604864; Spondyloepiphyseal dysplasia, Stanescu type, 616583; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450; Legg-Calve-Perthes disease, 150600; Stickler syndrome, type I, 108300; Avascular necrosis of the femoral head, 608805 for gene: COL2A1
Added phenotypes Achondrogenesis, type II or hypochondrogenesis, 200610; Spondyloperipheral dysplasia, 271700; SMED Strudwick type, 184250; Stickler sydrome, type I, nonsyndromic ocular, 609508; Vitreoretinopathy with phalangeal epiphyseal dysplasia; Kniest dysplasia, 156550; SED congenita, 183900; Czech dysplasia, 609162; Platyspondylic skeletal dysplasia, Torrance type, 151210; Osteoarthritis with mild chondrodysplasia, 604864; Spondyloepiphyseal dysplasia, Stanescu type, 616583; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450; Legg-Calve-Perthes disease, 150600; Stickler syndrome, type I, 108300; Avascular necrosis of the femoral head, 608805 for gene: COL2A1
Added phenotypes Platyspondylic skeletal dysplasia, Torrance type, 151210; Stickler syndrome, type I, 108300; Spondyloperipheral dysplasia, 271700; Osteoarthritis with mild chondrodysplasia, 604864; Kniest dysplasia, 156550; SMED Strudwick type, 184250; Czech dysplasia, 609162; Epiphyseal dysplasia, multiple, with myopia and deafness, 132450; Legg-Calve-Perthes disease, 150600; Vitreoretinopathy with phalangeal epiphyseal dysplasia; SED congenita, 183900; Spondyloepiphyseal dysplasia, Stanescu type, 616583; Avascular necrosis of the femoral head, 608805; Achondrogenesis, type II or hypochondrogenesis, 200610; Stickler sydrome, type I, nonsyndromic ocular, 609508 for gene: COL2A1
Source Next Generation Children Project was added to COL2A1.
Source Expert Review Green was added to COL2A1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: COL2A1 was added gene: COL2A1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: COL2A1 was set to