Ehlers Danlos syndromes

Gene: COL9A1

No list

COL9A1 (collagen type IX alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000112280
EnsemblGeneIds (GRCh37): ENSG00000112280
OMIM: 120210, Gene2Phenotype
COL9A1 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: COL9A1; 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
Created: 24 Jan 2019, 12:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Stickler syndrome, type IV 614134; ocular, auditory, skeletal, and orofacial abnormalities.Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts.

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: Currently only enough evidence in the literature to support Stickler Syndrome
Created: 10 May 2017, 2:41 p.m.
Review from Arianna Tucci : On panel as can present with joint laxity
Created: 10 May 2017, 10:36 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • NHS GMS
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Stickler syndrome, type IV, 614134
  • ?Epiphyseal dysplasia, multiple, 6, 614135
  • Connective Tissue Disorders
  • ocular, auditory, skeletal, and orofacial abnormalities.Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts.
Tags
curated_removed
OMIM
120210
Clinvar variants
Variants in COL9A1
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: COL9A1.

11 Jun 2019, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: col9a1 has been removed from the panel.

15 May 2019, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: COL9A1 were changed from Stickler syndrome, type IV, 614134; ?Epiphyseal dysplasia, multiple, 6, 614135; Connective Tissue Disorders to Stickler syndrome, type IV, 614134; ?Epiphyseal dysplasia, multiple, 6, 614135; Connective Tissue Disorders; ocular, auditory, skeletal, and orofacial abnormalities.Most forms of Stickler syndrome are characterized by the eye findings of high myopia, vitreoretinal degeneration, retinal detachment, and cataracts.

13 Mar 2019, Gel status: 3

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to COL9A1.

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 publications

Louise Daugherty (Genomics England Curator)

Publications for COL9A1 were set to 16909383; 21421862; 20301479

10 May 2017, Gel status: 3

Upload gene information

Louise Daugherty (Genomics England Curator)

COL9A1 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 Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL9A1 were set to Stickler syndrome, type IV, 614134;?Epiphyseal dysplasia, multiple, 6, 614135; Connective Tissue Disorders

10 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL9A1 were set to 16909383;21421862;20301479

10 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL9A1 were set to Stickler syndrome, type IV, 614134; Connective Tissue Disorders; ?Epiphyseal dysplasia, multiple, 6, 614135

7 May 2017, Gel status: 0

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for COL9A1 was changed to BIALLELIC, autosomal or pseudoautosomal

4 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL9A1 were set to Stickler syndrome, type IV, 614134; Connective Tissue Disorders

4 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL9A1 were set to Stickler syndrome, type IV, 614134; Connective tissue disorder

24 Jan 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

COL9A1 was added to Ehlers-Danlos syndromespanel. Sources: Expert list

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL9A1 was created by ellenmcdonagh