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  3. COL2A1
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Skeletal dysplasia

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 18 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

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

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

Created: 28 Feb 2020, 2:25 a.m.
Last Modified: 28 Feb 2020, 2:25 a.m.
Panel version: Imported from Mendeliome panel version 0.1473

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
Phenotypes
  • Osteoarthritis with mild chondrodysplasia 604864
  • Czech dysplasia 609162
  • SMED Strudwick type 184250
  • Spondyloepiphyseal dysplasia, Stanescu type 616583
  • Epiphyseal dysplasia, multiple, with myopia and deafness 132450
  • SED congenita 183900
  • Otospondylomegaepiphyseal dysplasia 215150
  • Stickler syndrome, type I 108300
  • Stickler sydrome, type I, nonsyndromic ocular 609508
  • Kniest dysplasia 156550
  • Platyspondylic skeletal dysplasia, Torrance type 151210
  • Spondyloperipheral dysplasia 271700
  • Achondrogenesis, type II or hypochondrogenesis 200610
  • Legg-Calve-Perthes disease 150600
  • Avascular necrosis of the femoral head 608805
OMIM
120140
Clinvar variants
Variants in COL2A1
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL2A1 was added gene: COL2A1 was added to Skeletal dysplasia. Sources: NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: COL2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL2A1 were set to Osteoarthritis with mild chondrodysplasia 604864; Czech dysplasia 609162; SMED Strudwick type 184250; Spondyloepiphyseal dysplasia, Stanescu type 616583; Epiphyseal dysplasia, multiple, with myopia and deafness 132450; SED congenita 183900; Otospondylomegaepiphyseal dysplasia 215150; Stickler syndrome, type I 108300; Stickler sydrome, type I, nonsyndromic ocular 609508; Kniest dysplasia 156550; Platyspondylic skeletal dysplasia, Torrance type 151210; Spondyloperipheral dysplasia 271700; Achondrogenesis, type II or hypochondrogenesis 200610; Legg-Calve-Perthes disease 150600; Avascular necrosis of the femoral head 608805