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  3. COL9A2
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Stickler syndrome

Gene: COL9A2

Green List (high evidence)
COL9A2 (collagen type IX alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000049089
EnsemblGeneIds (GRCh37): ENSG00000049089
OMIM: 120260, Gene2Phenotype
COL9A2 is in 15 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Epiphyseal dysplasia, multiple, 2, 600204;{Intervertebral disc disease, susceptibility to}, 603932;Stickler syndrome, type V, 614284
Created: 3 Mar 2021, 4:25 p.m. | Last Modified: 3 Mar 2021, 4:25 p.m.
Panel Version: 2.11
Created: 3 Mar 2021, 4:25 p.m.
Last Modified: 3 Mar 2021, 4:25 p.m.
Panel version: 2.11

allan richards (University of Cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 5 Nov 2017, 2:38 a.m.

Panel version: 0

Caroline Wright (Genomics England Curator)

Comment when marking as ready: DDG2P - LOF, biallelic
Created: 17 Dec 2015, 12:56 p.m.
Created: 17 Dec 2015, 12:56 p.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Stickler syndrome, type V, OMIM:614284
OMIM
120260
Clinvar variants
Variants in COL9A2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

27 Oct 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: COL9A2 were changed from ?Stickler syndrome, type V, OMIM:614284 to Stickler syndrome, type V, OMIM:614284

3 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: COL9A2 were changed from Epiphyseal dysplasia, multiple, 2, 600204; {Intervertebral disc disease, susceptibility to}, 603932; Stickler syndrome, type V, 614284 to ?Stickler syndrome, type V, OMIM:614284

1 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COL9A2 were set to Epiphyseal dysplasia, multiple, 2, 600204; {Intervertebral disc disease, susceptibility to}, 603932; Stickler syndrome, type V, 614284

17 Dec 2015, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

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

17 Dec 2015, Gel status: 3

Set publications

Caroline Wright (Genomics England Curator)

Publications for COL9A2 were set to 21671392

6 May 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

COL9A2 was added to Stickler syndromepanel. Sources: Emory Genetics Laboratory

6 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

COL9A2 was added to Stickler syndromepanel. Sources: Illumina TruGenome Clinical Sequencing Services

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

COL9A2 was added to Stickler syndromepanel. Sources: Radboud University Medical Center, Nijmegen