Cone-rod Dystrophy
Gene: OPN1SWEnsemblGeneIds (GRCh38): ENSG00000128617
EnsemblGeneIds (GRCh37): ENSG00000128617
OMIM: 613522, Gene2Phenotype
OPN1SW is in 2 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Has been included on this panel, so that it is with the other cone-specific colour blindness genes. At least 6 missense variants associated with tritanopia.
Sources: Expert listCreated: 22 May 2020, 12:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Colorblindness, tritan MIM#190900
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Colorblindness, tritan MIM#190900
- OMIM
- 613522
- Clinvar variants
- Variants in OPN1SW
- 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: opn1sw has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: opn1sw has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: OPN1SW was added gene: OPN1SW was added to Cone-rod Dystrophy. Sources: Expert list Mode of inheritance for gene: OPN1SW was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OPN1SW were set to 22065927; 1531728 Phenotypes for gene: OPN1SW were set to Colorblindness, tritan MIM#190900 Review for gene: OPN1SW was set to GREEN