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  2. Congenital Stationary Night Blindness
  3. GRK1
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Congenital Stationary Night Blindness

Gene: GRK1

Green List (high evidence)
GRK1 (G protein-coupled receptor kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000185974
EnsemblGeneIds (GRCh37): ENSG00000185974
OMIM: 180381, Gene2Phenotype
GRK1 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Oguchi disease is a rare autosomal recessive form of congenital stationary night blindness in which all other visual functions, including visual acuity, visual field, and color vision, are usually normal. A typical feature of the disease is a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and reappears shortly after the onset of light (Mizuo phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally.

More than 10 unrelated families reported.
Created: 25 Oct 2021, 4 a.m. | Last Modified: 25 Oct 2021, 4 a.m.
Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oguchi disease-2 613411

Publications

Created: 25 Oct 2021, 4 a.m.
Last Modified: 25 Oct 2021, 4 a.m.
Panel version: 0.11

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Oguchi disease-2, 613411
OMIM
180381
Clinvar variants
Variants in GRK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Oct 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: grk1 has been classified as Green List (High Evidence).

25 Oct 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GRK1 were set to

24 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: GRK1 was added gene: GRK1 was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: GRK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GRK1 were set to Oguchi disease-2, 613411