Structural eye disease
Gene: RGS9BP

RGS9BP (regulator of G protein signaling 9 binding protein)
EnsemblGeneIds (GRCh38): ENSG00000186326
EnsemblGeneIds (GRCh37): ENSG00000186326
OMIM: 607814, Gene2Phenotype
RGS9BP 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
Bradyopsia; 608415

Mode of pathogenicity
Other - please provide details in the comments

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
Bradyopsia, 608415

Mode of pathogenicity
Other - please provide details in the comments

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

Bradyopsia, 608415
Eye Disorders

OMIM

607814

Clinvar variants

Variants in RGS9BP

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 RGS9BP. Mode of inheritance for gene RGS9BP was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bradyopsia, 608415 for gene: RGS9BP

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: RGS9BP was added gene: RGS9BP was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: RGS9BP was set to Phenotypes for gene: RGS9BP were set to Eye Disorders

Structural eye disease Gene: RGS9BP