Stickler syndrome

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

4 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
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
Created: 3 Mar 2021, 4:23 p.m. | Last Modified: 3 Mar 2021, 4:23 p.m.
Panel Version: 2.9

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Checked imprinted gene list.
Created: 1 Feb 2016, 10:06 a.m.

Caroline Wright (Genomics England Curator)

Comment when marking as ready: DDG2P: LOF mechanism
Created: 17 Dec 2015, 11:52 a.m.

allan richards (University of Cambridge)

Splice site mutations and missense substitutions of Glycines within the Gly-Xaa-Yaa repeating amino acid sequence of the collagen are pathogenic
Created: 16 Oct 2015, 10:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Mode of pathogenicity
Other

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Stickler syndrome, type I, OMIM:108300
OMIM
120140
Clinvar variants
Variants in COL2A1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: COL2A1 were changed from 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 to Stickler syndrome, type I, OMIM:108300

3 Mar 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: COL2A1 were set to PMID: 16752401; 20513134

1 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COL2A1 were set to 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

1 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL2A1 were set to PMID: 16752401; 20513134

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for COL2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

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

12 Aug 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

COL2A1 was added to Stickler syndromepanel. Sources: Eligibility statement prior genetic testing

6 May 2015, Gel status: 4

Added New Source

Eik Haraldsdottir (Genomics England)

COL2A1 was added to Stickler syndromepanel. Sources: Radboud University Medical Center, Nijmegen

6 May 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

COL2A1 was added to Stickler syndromepanel. Sources: UKGTN

6 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

COL2A1 was added to Stickler syndromepanel. Sources: Emory Genetics Laboratory

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

COL2A1 was added to Stickler syndromepanel. Sources: Illumina TruGenome Clinical Sequencing Services