1. Panels
  2. Clefting disorders
  3. COL9A2
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Clefting disorders

Gene: COL9A2

Amber List (moderate evidence)
COL9A2 (collagen type IX alpha 2 chain)
EnsemblGeneIds (GRCh38): ENSG00000049089
EnsemblGeneIds (GRCh37): ENSG00000049089
OMIM: 120260, Gene2Phenotype
COL9A2 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Variants in this gene are associated with Stickler syndrome. However, the individuals reported to date have predominantly had an eye/deafness phenotype.
Created: 6 Feb 2021, 6:07 a.m. | Last Modified: 6 Feb 2021, 6:07 a.m.
Panel Version: 0.61

Phenotypes
Stickler syndrome, type V, MIM# 614284

Publications

Created: 6 Feb 2021, 6:07 a.m.
Last Modified: 6 Feb 2021, 6:07 a.m.
Panel version: 0.61

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Stickler syndrome, type V, MIM# 614284
OMIM
120260
Clinvar variants
Variants in COL9A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: col9a2 has been classified as Amber List (Moderate Evidence).

6 Feb 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

6 Feb 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COL9A2 were set to 21671392

16 Sep 2020, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL9A2 was added gene: COL9A2 was added to Clefting_GEL. Sources: Expert Review Amber,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services Mode of inheritance for gene: COL9A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL9A2 were set to 21671392 Phenotypes for gene: COL9A2 were set to Stickler syndrome; Orofacial Clefting with skeletal features; ?Stickler syndrome type V, 614284; Cleft palate