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Severe Paediatric Disorders

Gene: COL2A1

Green List (high evidence)

COL2A1 (collagen type II alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000139219
EnsemblGeneIds (GRCh37): ENSG00000139219
OMIM: 120140, Gene2Phenotype
COL2A1 is in 21 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

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 | ND
Created: 20 Feb 2020, 5:17 p.m. | Last Modified: 20 Feb 2020, 5:17 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
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
  • Epiphyseal dysplasia, multiple, with myopia and deafness, 132450
  • Spondyloepiphyseal dysplasia, Stanescu type, 616583
  • Osteoarthritis with mild chondrodysplasia, 604864
  • Legg-Calve-Perthes disease, 150600
  • Stickler syndrome, typ