Congenital nystagmus

Gene: SAG

Red List (low evidence)

SAG (S-antigen visual arrestin)
EnsemblGeneIds (GRCh38): ENSG00000130561
EnsemblGeneIds (GRCh37): ENSG00000130561
OMIM: 181031, Gene2Phenotype
SAG is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low 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, or Mizuo-Nakamura phenomenon). The course of dark adaptation of rod photoreceptors is extremely retarded, whereas that of cones appears to proceed normally.

Well established gene-disease association, multiple families reported. Nystagmus is not a feature.
Created: 5 May 2021, 10:51 a.m. | Last Modified: 27 Oct 2021, 6:04 a.m.
Panel Version: 0.128

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oguchi disease-1, MIM# 258100

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Oguchi disease-1, MIM# 258100
OMIM
181031
Clinvar variants
Variants in SAG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Oct 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SAG were set to

27 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sag 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: SAG was added gene: SAG was added to Congenital nystagmus. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: SAG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SAG were set to Oguchi disease-1, MIM# 258100