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Mendeliome

Gene: RGR

Red List (low evidence)

RGR (retinal G protein coupled receptor)
EnsemblGeneIds (GRCh38): ENSG00000148604
EnsemblGeneIds (GRCh37): ENSG00000148604
OMIM: 600342, Gene2Phenotype
RGR is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

One family with mono-allelic and one with bi-allelic variants and RP reported in PMID10581022. Two further dominant families reported in PMID 30347075 but with same variant, and shared haplotype, suggestive of founder effect. Variant occurs late, and protein may escape NMD. PMID 27748892 disputes role in disease: two LOF variants detected in individuals with myopia, did not segregate with disease in families, three missense with a variety of phenotypes, no supporting evidence of pathogenicity. PMID 27623334 disputes bi-allelic disease associated with RGR, variants in CDHR1 identified instead.
Created: 13 Oct 2020, 11:55 p.m. | Last Modified: 13 Oct 2020, 11:55 p.m.
Panel Version: 0.4895

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 44, MIM# 613769

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 44, MIM# 613769
Tags
disputed
OMIM
600342
Clinvar variants
Variants in RGR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Oct 2020, Gel status: 1

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag disputed tag was added to gene: RGR.

13 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Oct 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: RGR were changed from to Retinitis pigmentosa 44, MIM# 613769

13 Oct 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: RGR were set to

13 Oct 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: RGR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

13 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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