Ehlers Danlos syndromes

Gene: COL9A2

No list

COL9A2 (collagen type IX alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000049089
EnsemblGeneIds (GRCh37): ENSG00000049089
OMIM: 120260, Gene2Phenotype
COL9A2 is in 17 panels

5 reviews

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Following discussion in the GMS musculoskeletal specialist test group Webex on 2019-06-04, it was decided to remove the genes associated with Stickler syndrome from this panel. These genes are better covered by other panels.
Created: 11 Jun 2019, 11:07 a.m.
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: COL9A2; Suggested initial gene rating: red
Created: 3 Apr 2019, 3:41 p.m.

Duncan Baker (Sheffield Genetics)

Red List (low evidence)

D/W Dr D Johnson, features not fitting with EDS.
HGMD - few mutations reported. Mostly associated with Multiple epiphyseal dysplasia or myopia.
Created: 24 Jan 2019, 12:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Stickler syndrome, type V614284; Epiphyseal dysplasia, multiple, 2 600204; Sticklers high myopia, vitreoretinal degeneration, retinal detachment, and mild to moderate sensorineural hearing loss. Multiple epiphyseal dysplasia characterized by joint pain and stiffness, mild short stature, and degenerative joint disease.

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Comment on publications: added publications to support both disorders
Created: 10 May 2017, 2:50 p.m.
Comment on mode of inheritance: Stickler syndrome, type V (AR), Epiphyseal dysplasia, multiple, 2 (AD)
Created: 10 May 2017, 2:43 p.m.
Review from Arianna Tucci : On panel as can present with joint laxity
Created: 10 May 2017, 11:11 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • NHS GMS
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Stickler syndrome, type V, (AR), 614284
  • Epiphyseal dysplasia, multiple, 2, (AD), 600204
  • Connective Tissue Disorders
  • Sticklers high myopia, vitreoretinal degeneration, retinal detachment, and mild to moderate sensorineural hearing loss. Multiple epiphyseal dysplasia characterized by joint pain and stiffness, mild short stature, and degenerative joint disease.
Tags
curated_removed
OMIM
120260
Clinvar variants
Variants in COL9A2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: COL9A2.

11 Jun 2019, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: col9a2 has been removed from the panel.

15 May 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: COL9A2 were changed from Stickler syndrome, type V, (AR), 614284; Epiphyseal dysplasia, multiple, 2, (AD), 600204; Connective Tissue Disorders to Stickler syndrome, type V, (AR), 614284; Epiphyseal dysplasia, multiple, 2, (AD), 600204; Connective Tissue Disorders; Sticklers high myopia, vitreoretinal degeneration, retinal detachment, and mild to moderate sensorineural hearing loss. Multiple epiphyseal dysplasia characterized by joint pain and stiffness, mild short stature, and degenerative joint disease.

13 Mar 2019, Gel status: 3

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to COL9A2.

25 Jul 2017, Gel status: 3

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

10 May 2017, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL9A2 were set to Stickler syndrome, type V, (AR), 614284; Epiphyseal dysplasia, multiple, 2, (AD), 600204; Connective Tissue Disorders

10 May 2017, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL9A2 were set to 21671392; 20301479;8528240;10364514;12244547

10 May 2017, Gel status: 3

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for COL9A2 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

10 May 2017, Gel status: 3

Upload gene information

Louise Daugherty (Genomics England Curator)

COL9A2 was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory

10 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL9A2 were set to 21671392;20301479

10 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL9A2 were set to Stickler syndrome, type V, 614284;Epiphyseal dysplasia, multiple, 2, 600204; Connective Tissue Disorders

7 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL9A2 were set to ?Stickler syndrome, type V, 614284; Connective Tissue Disorders

7 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL9A2 were set to ?Stickler syndrome, type V, 614284, COL9A2-Related Stickler Syndrome

24 Jan 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

COL9A2 was added to Ehlers-Danlos syndromespanel. Sources: Expert list

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL9A2 was created by ellenmcdonagh