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  3. GRK1
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Congenital nystagmus

Gene: GRK1

Red List (low 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)

Red List (low evidence)

Nystagmus is not a reported feature.
Created: 25 Oct 2021, 3:59 a.m. | Last Modified: 25 Oct 2021, 3:59 a.m.
Panel Version: 0.43

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oguchi disease-2, MIM# 613411

Created: 25 Oct 2021, 3:59 a.m.
Last Modified: 25 Oct 2021, 3:59 a.m.
Panel version: 0.43

Details

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

History Filter Activity

25 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: grk1 has been classified as Red List (Low Evidence).

25 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: grk1 has been classified as Red List (Low Evidence).

6 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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