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  3. RGS9BP
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Achromatopsia

Gene: RGS9BP

Green List (high evidence)
RGS9BP (regulator of G protein signaling 9 binding protein)
EnsemblGeneIds (GRCh38): ENSG00000186326
EnsemblGeneIds (GRCh37): ENSG00000186326
OMIM: 607814, Gene2Phenotype
RGS9BP is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 3 families reported with homozygous variants
Sources: Expert list
Created: 22 May 2020, 3:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bradyopsia MIM#608415

Publications

Created: 22 May 2020, 3:09 a.m.

Panel version: 0.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Bradyopsia MIM#608415
OMIM
607814
Clinvar variants
Variants in RGS9BP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rgs9bp has been classified as Green List (High Evidence).

22 May 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: rgs9bp has been classified as Green List (High Evidence).

22 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: RGS9BP was added gene: RGS9BP was added to Achromatopsia. Sources: Expert list Mode of inheritance for gene: RGS9BP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RGS9BP were set to 14702087; 19818506 Phenotypes for gene: RGS9BP were set to Bradyopsia MIM#608415 Review for gene: RGS9BP was set to GREEN