Cataract
Gene: COL9A2EnsemblGeneIds (GRCh38): ENSG00000049089
EnsemblGeneIds (GRCh37): ENSG00000049089
OMIM: 120260, Gene2Phenotype
COL9A2 is in 13 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Stickler syndrome is generally associated with premature development of cataracts, however, cataracts are not reported in individuals with bi-allelic variants of this specific gene (PMID 31090205 or 21671392).Created: 6 Oct 2020, 9:45 a.m. | Last Modified: 6 Oct 2020, 9:45 a.m.
Panel Version: 0.233
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type V, MIM# 614284
Publications
Natalie Tan (Victorian Clinical Genetics Services)
Bi-allelic variants have been associated with Stickler syndrome in three unrelated families. Association is supported by multiple animal models. [Modified review by ZS from Deafness_IsolatedAndComplex panel.]
Sources: LiteratureCreated: 6 Oct 2020, 7:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stickler syndrome, type V, MIM# 614284
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Stickler syndrome, type V, MIM# 614284
- OMIM
- 120260
- Clinvar variants
- Variants in COL9A2
- Penetrance
- None
- Publications
- Panels with this gene
-
- BabyScreen+ newborn screening
- Cataract
- 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: col9a2 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: col9a2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Natalie Tan (Victorian Clinical Genetics Services)gene: COL9A2 was added gene: COL9A2 was added to Cataract. Sources: Literature Mode of inheritance for gene: COL9A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL9A2 were set to PMID: 31090205; 21671392; 20686772; 27666725; 15802199; 15710493 Phenotypes for gene: COL9A2 were set to Stickler syndrome, type V, MIM# 614284 Review for gene: COL9A2 was set to GREEN