Research panel - Severe Paediatric Disorders
Gene: COL2A1

COL2A1 (collagen type II alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000139219
EnsemblGeneIds (GRCh37): ENSG00000139219
OMIM: 120140, Gene2Phenotype
COL2A1 is in 19 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

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, type I, 108300
Avascular necrosis of the femoral head, 608805

OMIM

120140

Clinvar variants

Variants in COL2A1

Penetrance

None

Publications

30847515

Panels with this gene