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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 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated families reported.
Created: 16 Jan 2021, 11:34 p.m. | Last Modified: 16 Jan 2021, 11:34 p.m.
Panel Version: 0.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Stickler syndrome, type V, MIM# 614284

Publications

Created: 16 Jan 2021, 11:34 p.m.
Last Modified: 16 Jan 2021, 11:34 p.m.
Panel version: 0.16

History Filter Activity

16 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

16 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: COL9A2 were changed from to Stickler syndrome, type V, MIM# 614284

16 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: COL9A2 were set to

16 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: COL9A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

4 Mar 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance

Alison Yeung (Victorian Clinical Genetics Services)

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