Clefting
Gene: COL9A2

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

3 reviews

Arianna Tucci (Genomics England Curator)

I don't know

None of the affected members described in PMID 21671392 have cleft. Would leave it as amber
Created: 31 May 2017, 2:29 p.m.

Created: 31 May 2017, 2:29 p.m.

Panel version: 0.316

Louise Daugherty (Genomics England Curator)

Comment on list classification: The literature (PMID:21671392) indicates there is a report for only one family with Stickler, however it is a confirmed DD gene. This will be reviewed again on the Stickler panel.

Created: 9 Feb 2017, 3:04 p.m.

Comment on publications: Autosomal recessive Stickler syndrome type V is a rare type of Stickler syndrome, and to date has only been found in one family, caused by a mutation in the COL9A1 gene
Created: 24 Jan 2017, 3:07 p.m.

Comment on phenotypes: Added phenotypes from reviewer and OMIM.
Created: 24 Jan 2017, 3:06 p.m.

Created: 24 Jan 2017, 2:58 p.m.

Panel version: 0.98

Usha Kini (Oxford Centre for Genomic Medicine)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Stickler syndrome

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

Created: 8 Dec 2016, 10:35 a.m.

Panel version: 0.35

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Victorian Clinical Genetics Services
Expert Review Amber
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory
UKGTN

Phenotypes

Stickler syndrome, type V, OMIM:614284

OMIM

120260

Clinvar variants

Variants in COL9A2

Penetrance

Complete

Publications

21671392

Panels with this gene

History Filter Activity

27 Oct 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: COL9A2 were changed from ?Stickler syndrome type V, 614284; Orofacial Clefting with skeletal features; Stickler syndrome; Cleft palate to Stickler syndrome, type V, OMIM:614284

13 Aug 2018, Gel status: 2

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to COL9A2. Panel: Clefting Phenotypes for gene COL9A2 were set to ?Stickler syndrome type V, 614284, Orofacial Clefting with skeletal features, Stickler syndrome, Cleft palate

31 May 2017, Gel status: 2