Stickler Syndrome
Gene: COL9A1EnsemblGeneIds (GRCh38): ENSG00000112280
EnsemblGeneIds (GRCh37): ENSG00000112280
OMIM: 120210, Gene2Phenotype
COL9A1 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association.Created: 16 Jan 2021, 11:27 p.m. | Last Modified: 16 Jan 2021, 11:27 p.m.
Panel Version: 0.13
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type IV, MIM# 614134
Publications
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: col9a1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: COL9A1 were changed from to Stickler syndrome, type IV, MIM# 614134
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: COL9A1 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: COL9A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Alison Yeung (Victorian Clinical Genetics Services)gene: COL9A1 was added gene: COL9A1 was added to Stickler Syndrome. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL9A1 was set to Unknown