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  2. Congenital nystagmus
  3. RGS9BP
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Congenital nystagmus

Gene: RGS9BP

Red List (low 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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Nystagmus is not a feature.
Created: 27 Oct 2021, 5:54 a.m. | Last Modified: 27 Oct 2021, 5:54 a.m.
Panel Version: 0.126

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bradyopsia MIM#608415

Created: 27 Oct 2021, 5:54 a.m.
Last Modified: 27 Oct 2021, 5:54 a.m.
Panel version: 0.126

Details

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

History Filter Activity

27 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rgs9bp has been classified as Red List (Low Evidence).

27 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rgs9bp has been classified as Red List (Low Evidence).

6 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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