Retinitis pigmentosa_Autosomal Recessive/X-linked
Gene: RGREnsemblGeneIds (GRCh38): ENSG00000148604
EnsemblGeneIds (GRCh37): ENSG00000148604
OMIM: 600342, Gene2Phenotype
RGR is in 2 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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, 11:54 p.m. | Last Modified: 13 Oct 2020, 11:54 p.m.
Panel Version: 0.76
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
- Royal Melbourne Hospital
- Phenotypes
-
- Retinitis pigmentosa 44, 613769
- Tags
- OMIM
- 600342
- Clinvar variants
- Variants in RGR
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rgr has been classified as Red List (Low Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: RGR were set to
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rgr has been classified as Red List (Low Evidence).
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag disputed tag was added to gene: RGR.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RGR was added gene: RGR was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: RGR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: RGR were set to Retinitis pigmentosa 44, 613769