DDG2P
Gene: COL9A3

COL9A3 (collagen type IX alpha 3 chain)
EnsemblGeneIds (GRCh38): ENSG00000092758
EnsemblGeneIds (GRCh37): ENSG00000092758
OMIM: 120270, Gene2Phenotype
COL9A3 is in 15 panels

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for COL9A3-related multiple epiphyseal dysplasia are definitive, monoallelic_autosomal and dominant negative (PMIDs: 10090888, 10655510, 15551337). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01100. The DDG2P confidence category, allelic requirement and molecular mechanism for COL9A3-related Stickler syndrome are limited, biallelic_autosomal and loss of function (PMIDs: 24273071, 30450842, 31090205). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02091.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.

Panel Version: 6.17

The DDG2P confidence category for the disease MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3, OMIM:600969 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 15551337;10655510;10090888). The DDG2P confidence category for the disease Stickler syndrome is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 24273071;31090205;30450842).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.

Panel Version: 3.12

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

Phenotypes
OMIM:600969.0; COL9A3-related Stickler syndrome; OMIM:620022.0; MONDO:0031047; MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3, OMIM:600969; COL9A3-related multiple epiphyseal dysplasia; Stickler syndrome; MONDO:0010964

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 6.17

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

Multiple DD-Gene2Phenotype ratings (confirmed; possible). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3.
Created: 28 Jan 2019, 2:29 p.m.

Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations.
Created: 19 Nov 2018, 1:43 p.m.

Multiple MOPs in DD-G2P download: blank, dominant negative. No MOP provided for Stickler syndrome. Multiple MOIs in DD-G2P download: monoallelic and blank. No MOI provided for Stickler syndrome. Multiple ratings in DD-G2P download: Rated confirmed for MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3 600969 and rated possible for Stickler syndrome.
Created: 19 Nov 2018, 11:29 a.m.

Created: 19 Nov 2018, 11:29 a.m.

Panel version: 0.55

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
DD-Gene2Phenotype

Phenotypes

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 3 600969
Stickler syndrome

OMIM

120270

Clinvar variants

Variants in COL9A3

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: COL9A3 was changed from Other - please provide details in the comments to None

13 Feb 2026, Gel status: 3

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene COL9A3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

6 Oct 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag watchlist was removed from gene: COL9A3.

4 Oct 2023, Gel status: 3

Set mode of inheritance, Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of inheritance for gene COL9A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL9A3 were updated from 24273071 to 15551337; 30450842; 10655510; 24273071; 10090888; 31090205

29 Jan 2019, Gel status: 3