Clefting disorders
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)
At least three unrelated families reported with a Stickler phenotype, however findings to date have been predominantly ocular/hearing.Created: 6 Feb 2021, 6:39 a.m. | Last Modified: 6 Feb 2021, 6:39 a.m.
Panel Version: 0.64
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type VI, MIM# 620022
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Victorian Clinical Genetics Services
- Phenotypes
-
- Stickler syndrome, type VI, MIM# 620022
- 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
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: COL9A3 were changed from Stickler syndrome; Cleft palate to Stickler syndrome, type VI, MIM# 620022
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: col9a3 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: COL9A3 were changed from Cleft palate to Stickler syndrome; Cleft palate
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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: col9a3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: COL9A3 was added gene: COL9A3 was added to Clefting_GEL. Sources: Victorian Clinical Genetics Services Mode of inheritance for gene: COL9A3 was set to Unknown Phenotypes for gene: COL9A3 were set to Cleft palate