Stickler syndrome

Gene: COL9A3

Green List (high evidence)

COL9A3 (collagen type IX alpha 3 chain)
EnsemblGeneIds (GRCh38): ENSG00000092758
EnsemblGeneIds (GRCh37): ENSG00000092758
OMIM: 120270, Gene2Phenotype
COL9A3 is in 16 panels

4 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Stickler syndrome type VI, Mutiple Epiphyseal Dysplasia
Created: 3 Mar 2021, 4:28 p.m. | Last Modified: 3 Mar 2021, 4:28 p.m.
Panel Version: 2.12

Anna de Burca (Genomics England Curator)

I don't know

PMID:30450842 reports a second case of autosomal recessive Stickler syndrome. The proband was a single affected individual from a consanguineous family who was homozygous for a frameshift variant in COL9A3 which was 'not found in public SNP databases'.
Created: 19 Feb 2019, 11:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Caroline Wright (Genomics England Curator)

Comment on list classification: Unpublished result. Not listed as Stickler syndrome gene in OMIM or DDG2P, insufficient published cases in literature
Created: 17 Dec 2015, 1:11 p.m.

allan richards (University of Cambridge)

Green List (high evidence)

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
Created: 16 Oct 2015, 10:48 a.m.
We have unpublished confirmation of a homozygous loss of function mutation seen in COL9A3 in a patient with Stickler syndrome
Created: 16 Oct 2015, 8:29 a.m.

Phenotypes
Stickler syndrome VI; Mutiple Epiphyseal Dysplasia

Publications

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

History Filter Activity

3 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: COL9A3 were changed from Stickler syndrome type VI; Mutiple Epiphyseal Dysplasia to Stickler syndrome, MONDO:0019354

5 Apr 2019, Gel status: 3

Entity classified by Genomics England curator

Anna de Burca (Genomics England Curator)

Gene: col9a3 has been classified as Green List (High Evidence).

1 Apr 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: COL9A3 were set to 24273071 and unpublished observation

1 Feb 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COL9A3 were set to Stickler syndrome type VI; Mutiple Epiphyseal Dysplasia

17 Dec 2015, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

17 Dec 2015, Gel status: 1

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

16 Oct 2015, Gel status: 0

Added New Source

allan richards (University of Cambridge)

COL9A3 was added to Stickler syndromepanel. Sources: Expert Review