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Retinitis pigmentosa_Autosomal Dominant
Gene: SAG

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Multiple families with same variant: founder effect?
Created: 5 May 2021, 10:43 a.m. | Last Modified: 1 Feb 2023, 10:54 p.m.

Panel Version: 0.54

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Retinitis pigmentosa 47, MIM# 613758

Created: 5 May 2021, 10:43 a.m.
Last Modified: 1 Feb 2023, 10:54 p.m.
Panel version: 0.55

Ain Roesley (Victorian Clinical Genetics Services)

I don't know

PMID: 28549094
12 Hispanic families with 20 affecteds sharing the same haplotype suggestive of founder mutation

PMID: 33047631
1x Australian family

*all sharing the same variant Cys147Phe
Created: 5 May 2021, 6:19 a.m. | Last Modified: 5 May 2021, 6:19 a.m.

Panel Version: 0.23

Phenotypes
Retinitis pigmentosa

Publications

Created: 5 May 2021, 6:19 a.m.
Last Modified: 5 May 2021, 6:19 a.m.
Panel version: 0.23

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Royal Melbourne Hospital

Phenotypes

Retinitis pigmentosa 47, MIM# 613758

OMIM

Clinvar variants

Variants in SAG

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SAG was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 May 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).

5 May 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SAG were changed from Oguchi disease - 1; Oguchi Disease; Retinitis pigmentosa 47 to Retinitis pigmentosa 47, MIM# 613758

5 May 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SAG were set to 28549094

5 May 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SAG was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

5 May 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).

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SAG was added gene: SAG was added to Autosomal Dominant Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SAG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SAG were set to 28549094 Phenotypes for gene: SAG were set to Oguchi disease - 1; Oguchi Disease; Retinitis pigmentosa 47