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Mendeliome

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 13 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

For Stickler - AR:
4 families reported

For MED - AD:
Established, variants typically affecting intron 3
Created: 4 May 2022, 2:16 a.m. | Last Modified: 4 May 2022, 2:16 a.m.
Panel Version: 0.13674

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Stickler syndrome, type V MIM#614284' Epiphyseal dysplasia, multiple, 2 MIM#600204

Publications

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Stickler syndrome, type V MIM#614284' Epiphyseal dysplasia, multiple, 2 MIM#600204
OMIM
120260
Clinvar variants
Variants in COL9A2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 May 2022, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: col9a2 has been classified as Green List (High Evidence).

4 May 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: COL9A2 were set to

4 May 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: COL9A2 were changed from to Stickler syndrome, type V MIM#614284' Epiphyseal dysplasia, multiple, 2 MIM#600204

4 May 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: COL9A2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COL9A2 was added gene: COL9A2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL9A2 was set to Unknown