Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: OPN1SW

Green List (high evidence)

OPN1SW (opsin 1, short wave sensitive)
EnsemblGeneIds (GRCh38): ENSG00000128617
EnsemblGeneIds (GRCh37): ENSG00000128617
OMIM: 613522, Gene2Phenotype
OPN1SW is in 2 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Heterozygous variants associated with tritanopia
Created: 29 Mar 2022, 12:23 a.m. | Last Modified: 29 Mar 2022, 12:23 a.m.
Panel Version: 0.12224

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
  • Victorian Clinical Genetics Services
Phenotypes
  • Colourblindness, tritan - MIM#190900
OMIM
613522
Clinvar variants
Variants in OPN1SW
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: opn1sw has been classified as Green List (High Evidence).

29 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: OPN1SW were changed from to Colourblindness, tritan - MIM#190900

29 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: OPN1SW were set to

29 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: OPN1SW was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: OPN1SW was added gene: OPN1SW was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: OPN1SW was set to Unknown