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Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: SAG

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)

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, 10:45 a.m. | Last Modified: 5 May 2021, 10:45 a.m.

Panel Version: 0.88

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 47, MIM# 613758

Publications

Created: 5 May 2021, 10:45 a.m.
Last Modified: 5 May 2021, 10:45 a.m.
Panel version: 0.88

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Royal Melbourne Hospital

Phenotypes

Retinitis pigmentosa 47, MIM# 613758

Tags

founder

OMIM

Clinvar variants

Variants in SAG

Penetrance

None

Publications

Panels with this gene

History Filter Activity

5 May 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sag has been classified as Amber List (Moderate Evidence).

5 May 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SAG were changed from Oguchi disease-1, 258100; Retinitis pigmentosa 47 to Retinitis pigmentosa 47, MIM# 613758

5 May 2021, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SAG were set to

5 May 2021, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sag has been classified as Amber List (Moderate Evidence).

5 May 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: SAG.

23 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SAG was added gene: SAG was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SAG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SAG were set to Oguchi disease-1, 258100; Retinitis pigmentosa 47