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Limb 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 19 panels

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: 3 patients with spondyloperipheral dysplasia and phenotypic features such as brachydactyly have been reported, with plausible disease causing mutations in COL2A1
Created: 6 Nov 2018, 2:10 p.m.
Associated with many conditions in OMIM including Spondyloperipheral dysplasia.

Zabel et al. (1996) (PMID: 8723097)  described a 5-bp duplication in exon 51 of the COL2A1 gene resulting in a frameshift in a patient with spondyloperipheral dysplasia. The patient’s phenotypes included Brachydactyly and short toes.

Zankl et al. (2004) (PMID: 15316962) identified heterozygous truncating mutations in the COL2A1 gene in two patients with a phenotype similar to that described by Zabel et al. (1996). Both developed brachydactyly type E like changes of fingers and toes in childhood. In both individuals, heterozygosity for novel, distinct mutations in COL2A1 were found.

Summary - 3 patients with spondyloperipheral dysplasia and phenotypic features such as brachydactyly have been reported, with plausible disease causing mutations in COL2A1.
Created: 6 Nov 2018, 2:10 p.m.
Genomics England clinical team notes - Not primarily limb. On clefting, skeletal dysplasia panels.
Created: 9 Sep 2018, 5:39 p.m.
Comment on list classification: Rated Amber after review by Genomics England clinical team
Created: 9 Sep 2018, 5:33 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Green in the unexplained skeletal dysplasia panel version 1.99.
Created: 9 Apr 2018, 10:37 a.m.
Comment on phenotypes: Spondyloperipheral dysplasia 271700 (short ulna).
Created: 9 Apr 2018, 10:34 a.m.
PMID: 14729840 - a heterozygous missense variant in this gene was identified in a sporadic case of Torrance type of platyspondylic skeletal dysplasia, and a de novo 4bp deletion reported in a case with Kniest-like dysplasia. PMID: 15266623 identified a heterozygous variant in a girl with Czech dysplasia (PMID: 17726487 suggested the patient had spondyloperipheral dysplasia).
Created: 9 Apr 2018, 10:29 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Platyspondylic skeletal dysplasia, Torrance type 151210

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Platyspondylic skeletal dysplasia, Torrance type 151210
  • Achondrogenesis, type II or hypochondrogenesis 200610
  • Spondyloperipheral dysplasia 271700
OMIM
120140
Clinvar variants
Variants in COL2A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: PMID: 14729840 - a heterozygou

6 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: col2a1 has been classified as Green List (High Evidence).

6 Nov 2018, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: COL2A1 were set to 14729840; 15266623

6 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: col2a1 has been classified as Green List (High Evidence).

9 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: col2a1 has been classified as Amber List (Moderate Evidence).

9 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Apr 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COL2A1 were set to Platyspondylic skeletal dysplasia, Torrance type 151210; Achondrogenesis, type II or hypochondrogenesis 200610; Spondyloperipheral dysplasia 271700

9 Apr 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COL2A1 were set to Platyspondylic skeletal dysplasia, Torrance type 151210; Achondrogenesis, type II or hypochondrogenesis 200610

9 Apr 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

COL2A1 was added to Limb disorders panel. Sources: Other

9 Apr 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

COL2A1 was created by Ellen McDonagh