Deafness_Isolated
Gene: COL9A3EnsemblGeneIds (GRCh38): ENSG00000092758
EnsemblGeneIds (GRCh37): ENSG00000092758
OMIM: 120270, Gene2Phenotype
COL9A3 is in 13 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three unrelated families reported with bi-allelic variants in this gene and a Stickler phenotype. Note association between mono-allelic variants and MED is much better established but deafness is not part of the phenotype.Created: 29 Sep 2020, 12:16 a.m. | Last Modified: 29 Sep 2020, 12:16 a.m.
Panel Version: 0.443
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Melbourne Genomics Health Alliance Deafness Flagship
- Melbourne Genomics Health Alliance Deafness Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Stickler syndrome
- OMIM
- 120270
- Clinvar variants
- Variants in COL9A3
- Penetrance
- None
- Publications
- Panels with this gene
-
- BabyScreen+ newborn screening
- Vitreoretinopathy
- Stickler Syndrome
- Muscular dystrophy and myopathy_Paediatric
- Pierre Robin Sequence
- Deafness_IsolatedAndComplex
- Deafness_Isolated
- Skeletal dysplasia
- Multiple epiphyseal dysplasia and pseudoachondroplasia
- Fetal anomalies
- Clefting disorders
- Additional findings_Paediatric
- Mendeliome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: col9a3 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: COL9A3 were changed from to Stickler syndrome
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: COL9A3 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: COL9A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: COL9A3 was added gene: COL9A3 was added to DeafnessIsolated. Sources: Melbourne Genomics Health Alliance Deafness Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COL9A3 was set to Unknown