Ehlers Danlos syndromes

Gene: COL9A3

No list

COL9A3 (collagen type IX alpha 3 chain)
EnsemblGeneIds (GRCh38): ENSG00000092758
EnsemblGeneIds (GRCh37): ENSG00000092758
OMIM: 120270, Gene2Phenotype
COL9A3 is in 16 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: COL9A3; 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. Not enough phenotypic overlap with EDS for inclusion in panel.
Created: 24 Jan 2019, 12:28 p.m.

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

Phenotypes
Epiphyseal dysplasia, multiple, 3, with or without myopathy 600969; Multiple epiphyseal dysplasia

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Comment on mode of inheritance: Epiphyseal dysplasia, multiple, 3, with or without myopathy (AD), Stickler syndrome VI (AR)
Created: 10 May 2017, 2:58 p.m.
Review from Arianna Tucci : On panel as can present with joint laxity
Created: 10 May 2017, 12:32 p.m.
Comment on list classification: Change Red to Green from comment made by expert reviewer Allan Richards (University of Cambridge) regarding Stickler syndrome. This gene encodes the third alpha chain of the type IX collagen molecule, the other two chains being encoded by COL9A1 and COL9A2 and therefore should be rated as green even though there are not many examples in the literature. Variants in this gene are reported as part of current diagnostic practice
Created: 10 May 2017, 12:06 p.m.
Comment from Allan Richards (University of Cambridge), Oct. 16, 2015. We have unpublished confirmation of a homozygous loss of function mutation seen in COL9A3 in a patient with Stickler syndrome.
This gene encodes the third alpha chain of the type IX collagen molecule, the other two chains being encoded by COL9A1 and COL9A2 and therefore should be rated as green even though there are not many examples in the literature. Variants in this gene are reported as part of current diagnostic practice
Created: 10 May 2017, 12:04 p.m.
Comment on publications: PMID: 24273071 Faletra et al. (2014) described 3 brothers in a consanguineous Moroccan family who had some features of Stickler syndrome but who also had moderate to severe intellectual disability. The authors suggested that the mutation caused a novel form of Stickler syndrome but that it was not pathogenic for intellectual disability.
Created: 10 May 2017, 11:51 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • NHS GMS
  • Expert list
Phenotypes
  • Stickler syndrome VI
  • Connective Tissue Disorders
  • Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969
  • Multiple epiphyseal dysplasia
Tags
curated_removed
OMIM
120270
Clinvar variants
Variants in COL9A3
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: COL9A3.

11 Jun 2019, Gel status: 0

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: col9a3 has been removed from the panel.

15 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: COL9A3 were changed from Stickler syndrome VI; Connective Tissue Disorders; Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969 to Stickler syndrome VI; Connective Tissue Disorders; Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969; Multiple epiphyseal dysplasia

13 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to COL9A3. Rating Changed from Green List (high evidence) to Green List (high evidence)

25 Jul 2017, Gel status: 4

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: 4

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for COL9A3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

10 May 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL9A3 were set to 24273071; 20301479;10090888;10655510;15551337

10 May 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

10 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL9A3 were set to 24273071; 20301479

10 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL9A3 were set to Stickler syndrome VI; Connective Tissue Disorders;Epiphyseal dysplasia, multiple, 3, with or without myopathy, 600969

10 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL9A3 were set to 21671392; 24273071; 20301479

7 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for COL9A3 were set to 21671392;24273071

7 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for COL9A3 were set to ?Stickler syndrome type; Connective Tissue Disorders

7 May 2017, Gel status: 0

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for COL9A3 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Jan 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

COL9A3 was added to Ehlers-Danlos syndromespanel. Sources: Expert list

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

COL9A3 was created by ellenmcdonagh