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Osteogenesis imperfecta

Gene: COL2A1

Red List (low evidence)

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

4 reviews

Ellen Thomas (Genomics England Curator)

Comment on list classification: Conditions caused by COL2A1 wouldn't present with pathological fractures as the primary feature so not appropriate for this panel.
Created: 16 May 2016, 2:18 p.m.

Raymond Dalgleish (University of Leicester)

Red List (low evidence)

I know of no evidence for COL2A1 being an OI gene. The gene has been studied for ages and the evidence would have emerged by now.
Created: 8 Dec 2015, noon

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

?Overlapping features
Created: 27 Nov 2015, 3:03 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Green List (high evidence)

There is good evidence to support a causal role of this gene in Stickler syndrome, Spondyloepiphyseal Dysplasia Congenita and Achondrogenesis type II, as well as other skeletal dysplasias.
Created: 28 Sep 2015, 1:32 p.m.

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


  • Expert Review Red
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Stickler syndrome, type I, 108300
  • Kniest dysplasia, 156550
  • Achondrogenesis, type II or hypochondrogenesis, 200610
  • SED congenita, 183900
  • SMED Strudwick type, 184250
  • Epiphyseal dysplasia, multiple, with myopia and deafness, 132450
  • Spondyloperipheral dysplasia, 271700
  • SED, Namaqualand type
  • Osteoarthritis with mild chondrodysplasia, 604864
  • Vitreoretinopathy with phalangeal epiphyseal dysplasia
  • Platyspondylic skeletal dysplasia, Torrance type, 151210
  • Otospondylomegaepiphyseal dysplasia, 215150
  • Avascular necrosis of the femoral head, 608805
  • Legg-Calve-Perthes disease, 150600
  • Stickler sydrome, type I, nonsyndromic ocular, 609508
  • Czech dysplasia, 609162
  • Disproportionate Short Stature
Clinvar variants
Variants in COL2A1
Panels with this gene

History Filter Activity

16 May 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

COL2A1 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL2A1 was added to Osteogenesis Imperfecta panel. Sources: Radboud University Medical Center, Nijmegen