RP2 gene related symptoms and diseases
All the information presented here about the RP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RP2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Visual impairment | Common - Between 50% and 80% cases |
| Intellectual disability | Common - Between 50% and 80% cases |
| Blindness | Common - Between 50% and 80% cases |
| Nyctalopia | Uncommon - Between 30% and 50% cases |
| Chorioretinal degeneration | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with RP2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hyperinsulinemia
- Type II diabetes mellitus
- Cataract
- Rod-cone dystrophy
- Obesity
Rarely - Less than 30% cases
- Scotoma
- Constriction of peripheral visual field
- Intellectual disability, moderate
And 61 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RP2 gene
Here you will find a list of rare diseases related to the RP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
POLYCYSTIC OVARY SYNDROME 1; PCOS1
Alternate names
POLYCYSTIC OVARY SYNDROME 1; PCOS1 Is also known as pco, pco1, hyperandrogenemia, stein-leventhal syndrome, pcos
Description
a health problem that can affect a woman's menstrual cycle, fertility, hormones, insulin production, heart, blood vessels, and appearance
Most common symptoms of POLYCYSTIC OVARY SYNDROME 1; PCOS1
- Neoplasm
- Abnormality of metabolism/homeostasis
- Obesity
- Diabetes mellitus
- Apnea
More info about POLYCYSTIC OVARY SYNDROME 1; PCOS1
X-LINKED INTELLECTUAL DISABILITY-RETINITIS PIGMENTOSA SYNDROME
Alternate names
X-LINKED INTELLECTUAL DISABILITY-RETINITIS PIGMENTOSA SYNDROME Is also known as retinitis pigmentosa and intellectual disability due to xp11.3 microdeletion, aldred syndrome, retinitis pigmentosa and intellectual disability due to del(x)(p11.3), retinitis pigmentosa and intellectual disability due to monosomy xp11.3
Description
X-linked intellectual disability-retinitis pigmentosa syndrome is characterized by moderate intellectual deficit and severe, early-onset retinitis pigmentosa. It has been described in five males spanning three generations of one family. Some patients also had microcephaly. It is transmitted as an X-linked recessive trait.
Most common symptoms of X-LINKED INTELLECTUAL DISABILITY-RETINITIS PIGMENTOSA SYNDROME
- Intellectual disability
- Cataract
- Visual impairment
- Myopia
- Blindness
More info about X-LINKED INTELLECTUAL DISABILITY-RETINITIS PIGMENTOSA SYNDROME
CHROMOSOME XP11.3 DELETION SYNDROME
Alternate names
CHROMOSOME XP11.3 DELETION SYNDROME Is also known as mental retardation, x-linked, with retinitis pigmentosa
Most common symptoms of CHROMOSOME XP11.3 DELETION SYNDROME
- Intellectual disability
- Short stature
- Microcephaly
- Visual impairment
- Blindness
More info about CHROMOSOME XP11.3 DELETION SYNDROME
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 RP2
Potential gene panels for RP2 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.
RP2 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the RP2 gene.
More info about this panel United States.
RP2 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the RP2 gene.
More info about this panel United States.
RP2 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the RP2 gene.
More info about this panel United States.
RP2 Deletion/Duplication Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the RP2 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.
RP2 Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the RP2 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.
RP2 Gene Sequencing Panel
United States.
By GeneDx
This panel specifically test the RP2 gene.
More info about this panel United States.
RP2 mutation analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the RP2 gene.
More info about this panel Netherlands.
RP2. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the RP2 gene.
More info about this panel Spain.
Retinitis pigmentosa 2, X-linked (sequence analysis of RP2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the RP2 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.
X-linked Retinitis Pigmentosa (XLRP) via RP2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the RP2 gene.
More info about this panel United States.
X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics X-linked Retinitis Pigmentosa (XLRP) (includes RPGR ORF15) and Choroideremia Sequencing Panel with CNV Detection that also includes the following genes: RP2 RPGR CHM OFD1
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.
Retinitis pigmentosa type 2 X-linked Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the RP2 gene.
More info about this panel Germany.
X-linked retinitis pigmentosa Panel
United Kingdom.
By Genomic Diagnostics Laboratory Central Manchester NHS Foundation Trust
This panel specifically test the RP2 gene.
More info about this panel United Kingdom.
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.
Single gene testing RP2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the RP2 gene.
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.
X-Linked Retinitis Pigmentosa (includes RPGR ORF15) Panel
Estonia.
By Asper Biogene Asper Biogene LLC X-Linked Retinitis Pigmentosa (includes RPGR ORF15) that also includes the following genes: RP2 RPGR OFD1
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.
X-Linked RP Panel Panel
United States.
By Molecular Vision Laboratory X-Linked RP Panel that also includes the following genes: RP2 RPGR RS1 CHM OFD1
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.
RP2 Panel
Austria.
By Division Human Genetics Medical University Innsbruck
This panel specifically test the RP2 gene.
More info about this panel Austria.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
Retinitis Pigmentosa 2: RP2 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the RP2 gene.
More info about this panel Spain.
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.
RP2-Related X-Linked Retinitis Pigmentosa: RP2 Full Gene Sequencing Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the RP2 gene.
More info about this panel United States.
RP2-Related X-Linked Retinitis Pigmentosa: RP2 Gene Deletion/Duplication Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics
This panel specifically test the RP2 gene.
More info about this panel United States.
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.
RP2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RP2 gene.
More info about this panel United States.
X-chromosome High Resolution microarray analysis Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
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.
X-linked Retinitis pigmentosa Panel
Spain.
By Bioarray
This panel specifically test the RP2 gene.
More info about this panel Spain.
RETINITIS PIGMENTOSA (X-LINKED) Panel
Spain.
By Laboratorio de Genetica Clinica SL RETINITIS PIGMENTOSA (X-LINKED) that also includes the following genes: RP2 RPGR
More info about this panel Spain.
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.
Retinitis Pigmentosa, Sequencing RP2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the RP2 gene.
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.
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