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Mendeliome

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 12 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

For stickler:
Well established gene-disease association.

For MED, AD:
Red rating
Created: 4 May 2022, 3:40 a.m. | Last Modified: 4 May 2022, 3:40 a.m.
Panel Version: 0.13685

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Stickler syndrome, type IV, MIM# 614134

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Stickler syndrome, type IV, MIM# 614134
OMIM
120210
Clinvar variants
Variants in COL9A1
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: col9a1 has been classified as Green List (High Evidence).

4 May 2022, Gel status: 3

Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

Phenotypes for gene: COL9A1 were changed from to Stickler syndrome, type IV, MIM# 614134

4 May 2022, Gel status: 3

Set publications

Ain Roesley (Victorian Clinical Genetics Services)

Publications for gene: COL9A1 were set to

4 May 2022, Gel status: 3

Set mode of inheritance

Ain Roesley (Victorian Clinical Genetics Services)

Mode of inheritance for gene: COL9A1 was changed from Unknown to 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: COL9A1 was added gene: COL9A1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL9A1 was set to Unknown