Congenital nystagmus
Gene: SAG
SAG (S-antigen visual arrestin)
EnsemblGeneIds (GRCh38): ENSG00000130561
EnsemblGeneIds (GRCh37): ENSG00000130561
OMIM: 181031, Gene2Phenotype
SAG is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000130561
EnsemblGeneIds (GRCh37): ENSG00000130561
OMIM: 181031, Gene2Phenotype
SAG is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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