RGR gene related symptoms and diseases
All the information presented here about the RGR gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RGR gene
| Symptoms // Phenotype | % Cases | 
|---|---|
| Visual impairment | Very Common - Between 80% and 100% cases | 
| Obesity | Uncommon - Between 30% and 50% cases | 
| Abnormality of the retinal vasculature | Uncommon - Between 30% and 50% cases | 
| Abnormality of the testis | Uncommon - Between 30% and 50% cases | 
| Atypical scarring of skin | Uncommon - Between 30% and 50% cases | 
Other less frequent symptoms and clinical features
Patients with RGR gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Keratoconus
 - Hyperinsulinemia
 - Abnormal electroretinogram
 - Abnormality of retinal pigmentation
 - Type II diabetes mellitus
 - Hypoplasia of penis
 - Ophthalmoplegia
 - Conductive hearing impairment
 
And 21 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RGR gene
Here you will find a list of rare diseases related to the RGR. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
RETINITIS PIGMENTOSA 44; RP44
Most common symptoms of RETINITIS PIGMENTOSA 44; RP44
- Visual impairment
 - Rod-cone dystrophy
 - Reduced visual acuity
 - Retinal degeneration
 - Constriction of peripheral visual field
 
More info about RETINITIS PIGMENTOSA 44; RP44
SOURCES: OMIM
RETINITIS PIGMENTOSA
Description
Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.
Most common symptoms of RETINITIS PIGMENTOSA
- Intellectual disability
 - Nystagmus
 - Sensorineural hearing impairment
 - Cataract
 - Visual impairment
 
More info about RETINITIS PIGMENTOSA
SOURCES: ORPHANET
Search interest in RGR
Potential gene panels for RGR gene
MitoMet®Plus aCGH Analysis Panel
 United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel
 United States.
RGR Comprehensive - Sequence & Deletion/Duplication Analysis Panel
 United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the RGR gene.
More info about this panel
 United States.
RGR Sequence Analysis Panel
 United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the RGR gene.
More info about this panel
 United States.
RGR Deletion/Duplication Analysis Panel
 United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the RGR gene.
More info about this panel
 United States.
RGR Sequence Analysis (Prenatal Diagnosis) Panel
 United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the RGR gene.
More info about this panel
 United States.
Retinitis Pigmentosa Panel Panel
 United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panel
 United States.
RGR Panel
 Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the RGR gene.
More info about this panel
 Germany.
Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication Panel
 United States.
By ARUP Laboratories, Molecular Genetics and Genomics Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panel
 United States.
Retinitis pigmentosa 44 (sequence analysis of RGR gene) Panel
 Portugal.
By CGC Genetics
This panel specifically test the RGR gene.
More info about this panel
 Portugal.
Retinitis pigmentosa (NGS panel for 72 genes) Panel
 Portugal.
By CGC Genetics Retinitis pigmentosa (NGS panel for 72 genes) that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panel
 Portugal.
Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes) Panel
 Portugal.
By CGC Genetics Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes) that also includes the following genes: RHO RLBP1 RP1 RP2 RPE65 RPGR SAG TUB TULP1 USH2A
More info about this panel
 Portugal.
Retinitis pigmentosa, AD and X-linked (NGS panel for 27 genes) Panel
 Portugal.
By CGC Genetics Retinitis pigmentosa, AD and X-linked (NGS panel for 27 genes) that also includes the following genes: RHO ROM1 RP1 RP2 RP9 RPE65 RPGR SEMA4A BEST1 CA4
More info about this panel
 Portugal.
Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection Panel
 United States.
By PreventionGenetics PreventionGenetics Autosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection that also includes the following genes: RHO RLBP1 RP1 RPE65 SAG SEMA4A TULP1 USH2A CLRN1 BEST1
More info about this panel
 United States.
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
 United States.
By PreventionGenetics PreventionGenetics Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR SAG SEMA4A TULP1
More info about this panel
 United States.
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
 United States.
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel
 United States.
RGR-Related Retinitis Pigmentosa Panel
 Germany.
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the RGR gene.
More info about this panel
 Germany.
Retinitis pigmentosa type 44, autosomal dominant/recessive Panel
 Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the RGR gene.
More info about this panel
 Germany.
Retinitis pigmentosa, autosomal dominant and X-linked Panel Panel
 Germany.
By CeGaT GmbH Retinitis pigmentosa, autosomal dominant and X-linked Panel that also includes the following genes: RHO ROM1 RP1 RP2 RP9 RPE65 RPGR SEMA4A SPP2 BEST1
More info about this panel
 Germany.
Retinitis pigmentosa, autosomal recessive and X-linked Panel Panel
 Germany.
By CeGaT GmbH Retinitis pigmentosa, autosomal recessive and X-linked Panel that also includes the following genes: RHO RLBP1 RP1 RP2 RPE65 RPGR SAG TUB TULP1 USH2A
More info about this panel
 Germany.
Autosomal Recessive Retinitis Pigmentosa Panel
 Estonia.
By Asper Biogene Asper Biogene LLC Autosomal Recessive Retinitis Pigmentosa that also includes the following genes: RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG
More info about this panel
 Estonia.
Autosomal Dominant Retinitis Pigmentosa Panel
 Estonia.
By Asper Biogene Asper Biogene LLC Autosomal Dominant Retinitis Pigmentosa that also includes the following genes: RHO ROM1 RP1 RP9 RPE65 SEMA4A BEST1 CA4 PRPF31 KLHL7
More info about this panel
 Estonia.
Eye diseases comprehensive panel Panel
 Estonia.
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel
 Estonia.
Retinal Dystrophy Panel Panel
 United States.
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel
 United States.
MVL Vision Panel Panel
 United States.
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel
 United States.
RETINITIS PIGMENTOSA A.R. Panel
 Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases RETINITIS PIGMENTOSA A.R. that also includes the following genes: RHO RLBP1 RP1 RP2 RPE65 RPGR SAG TULP1 USH2A BEST1
More info about this panel
 Spain.
RETINITIS PIGMENTOSA A.D Panel
 Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases RETINITIS PIGMENTOSA A.D that also includes the following genes: RHO ROM1 RP1 RP2 RP9 RPE65 RPGR SEMA4A BEST1 CA4
More info about this panel
 Spain.
RETINITIS PIGMENTOSA Panel
 Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases RETINITIS PIGMENTOSA that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panel
 Spain.
Eye Disorders: Comprehensive Sequencing Panel Panel
 United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panel
 United States.
Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel Panel
 United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panel
 United States.
Retina/Photoreceptor Dystrophy: Sequencing Panel Panel
 United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Retina/Photoreceptor Dystrophy: Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panel
 United States.
Eye Disorders: Deletion/Duplication Panel Panel
 United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panel
 United States.
Eye Disorders NGS Panel Panel
 United States.
By Fulgent Genetics Fulgent Genetics Eye Disorders NGS Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR CNNM4
More info about this panel
 United States.
Retinitis Pigmentosa NGS Panel Panel
 United States.
By Fulgent Genetics Fulgent Genetics Retinitis Pigmentosa NGS Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panel
 United States.
RGR Panel
 United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RGR gene.
More info about this panel
 United States.
Retinal Dystrophy Panel Panel
 Finland.
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panel
 Finland.
Retinitis Pigmentosa Panel Panel
 Finland.
By Blueprint Genetics Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 SAG CWC27
More info about this panel
 Finland.
RETINITIS PIGMENTOSA NGS PANEL Panel
 Spain.
By Laboratorio de Genetica Clinica SL RETINITIS PIGMENTOSA NGS PANEL that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panel
 Spain.
Autosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes Panel
 Spain.
By Reference Laboratory Genetics Autosomal Recessive and Sporadic Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 41 Genes that also includes the following genes: RHO RLBP1 RP1 RP2 RPE65 RPGR SAG TULP1 USH2A BEST1
More info about this panel
 Spain.
Autosomal Dominant Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 27 Genes Panel
 Spain.
By Reference Laboratory Genetics Autosomal Dominant Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 27 Genes that also includes the following genes: RHO ROM1 RP1 RP2 RP9 RPE65 RPGR SEMA4A BEST1 CA4
More info about this panel
 Spain.
Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes Panel
 Spain.
By Reference Laboratory Genetics Retinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panel
 Spain.
Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel Panel
 Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel that also includes the following genes: RHO RLBP1 RP1 RPE65 SAG TULP1 USH2A CLRN1 BEST1 ARL6
More info about this panel
 Canada.
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