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  3. COL9A1
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Stickler syndrome

Gene: COL9A1

Green List (high evidence)
COL9A1 (collagen type IX alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000112280
EnsemblGeneIds (GRCh37): ENSG00000112280
OMIM: 120210, Gene2Phenotype
COL9A1 is in 15 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Epiphyseal dysplasia, multiple, 6, 614135;Stickler syndrome, type IV, 614134;Stickler Syndrome, Recessive
Created: 3 Mar 2021, 4:24 p.m. | Last Modified: 3 Mar 2021, 4:24 p.m.
Panel Version: 2.10
Created: 3 Mar 2021, 4:24 p.m.
Last Modified: 3 Mar 2021, 4:24 p.m.
Panel version: 2.10

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 mechansim
Created: 17 Dec 2015, 12:50 p.m.
Created: 17 Dec 2015, 12:50 p.m.

Panel version: 0.2

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 IV, OMIM:614134
OMIM
120210
Clinvar variants
Variants in COL9A1
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: COL9A1 were changed from Epiphyseal dysplasia, multiple, 6, 614135; Stickler syndrome, type IV, 614134; Stickler Syndrome, Recessive to Stickler syndrome, type IV, OMIM:614134

1 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COL9A1 were set to Epiphyseal dysplasia, multiple, 6, 614135; Stickler syndrome, type IV, 614134; Stickler Syndrome, Recessive

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).

6 May 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

COL9A1 was added to Stickler syndromepanel. Sources: Emory Genetics Laboratory

6 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

COL9A1 was added to Stickler syndromepanel. Sources: Illumina TruGenome Clinical Sequencing Services

6 May 2015, Gel status: 1

Added New Source

Eik Haraldsdottir (Genomics England)

COL9A1 was added to Stickler syndromepanel. Sources: Radboud University Medical Center, Nijmegen