Structural eye disease
Gene: SAG

SAG (S-antigen visual arrestin)
EnsemblGeneIds (GRCh38): ENSG00000130561
EnsemblGeneIds (GRCh37): ENSG00000130561
OMIM: 181031, Gene2Phenotype
SAG is in 3 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oguchi disease-1; Retinitis pigmentosa 47; 258100; 613758

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oguchi disease-1; Retinitis pigmentosa 47; 258100; 613758

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.48

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red

Phenotypes

Retinitis pigmentosa 47
Oguchi disease-1
258100
613758
Eye Disorders

OMIM

181031

Clinvar variants

Variants in SAG

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SAG. Mode of inheritance for gene SAG was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Retinitis pigmentosa 47; Oguchi disease-1; 258100; 613758 for gene: SAG

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: SAG was added gene: SAG was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: SAG was set to Phenotypes for gene: SAG were set to Eye Disorders

Structural eye disease Gene: SAG