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Mendeliome

Gene: RGS9

Green List (high evidence)

RGS9 (regulator of G protein signaling 9)
EnsemblGeneIds (GRCh38): ENSG00000108370
EnsemblGeneIds (GRCh37): ENSG00000108370
OMIM: 604067, Gene2Phenotype
RGS9 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

4 unrelated Dutch individuals homozygous for same missense variant reported in PMID 14702087. Likely founder. A British individual compound het for different variants reported in PMID 19818506.
Mouse model.
Created: 12 May 2022, 11:15 p.m. | Last Modified: 12 May 2022, 11:15 p.m.
Panel Version: 0.14194

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bradyopsia, MIM# 608415

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bradyopsia, MIM# 608415
OMIM
604067
Clinvar variants
Variants in RGS9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: rgs9 has been classified as Green List (High Evidence).

12 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RGS9 were changed from to Bradyopsia, MIM# 608415

12 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RGS9 were set to

12 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RGS9 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RGS9 was added gene: RGS9 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RGS9 was set to Unknown