PRPF31 gene related symptoms and diseases
All the information presented here about the PRPF31 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 PRPF31 gene
Symptoms // Phenotype | % Cases |
---|---|
Cataract | Very Common - Between 80% and 100% cases |
Visual impairment | Very Common - Between 80% and 100% cases |
Blindness | Very Common - Between 80% and 100% cases |
Abnormality of the retinal vasculature | Uncommon - Between 30% and 50% cases |
Abnormality of the testis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with PRPF31 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Atypical scarring of skin
- Keratoconus
- Hyperinsulinemia
- Abnormal electroretinogram
- Abnormality of retinal pigmentation
- Type II diabetes mellitus
- Hypoplasia of penis
- Ophthalmoplegia
And 19 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PRPF31 gene
Here you will find a list of rare diseases related to the PRPF31. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
RETINITIS PIGMENTOSA 11; RP11
Description
Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of retinal dystrophies characterized by a progressive degeneration of photoreceptors, eventually resulting in severe visual impairment.For a discussion of genetic heterogeneity of RP, see {268000}.
Most common symptoms of RETINITIS PIGMENTOSA 11; RP11
- Cataract
- Visual impairment
- Edema
- Blindness
- Rod-cone dystrophy
More info about RETINITIS PIGMENTOSA 11; RP11
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 PRPF31
Potential gene panels for PRPF31 gene
MitoMet®Plus aCGH Analysis Panel
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 panelPRPF31 Sequence Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the PRPF31 gene.
More info about this panelPRPF31 Comprehensive - Sequence & Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the PRPF31 gene.
More info about this panelPRPF31 Deletion/Duplication Analysis Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the PRPF31 gene.
More info about this panelPRPF31 Sequence Analysis (Prenatal Diagnosis) Panel
By Baylor Miraca Genetics Laboratories
This panel specifically test the PRPF31 gene.
More info about this panelRetinitis Pigmentosa Panel Panel
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 panelPRPF31 Panel
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the PRPF31 gene.
More info about this panelRetinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication Panel
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 panelRetinitis pigmentosa 11 (sequence analysis of PRPF31 gene) Panel
By CGC Genetics
This panel specifically test the PRPF31 gene.
More info about this panelRetinitis pigmentosa (NGS panel for 72 genes) Panel
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 panelRetinitis pigmentosa, AD and X-linked (NGS panel for 27 genes) Panel
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 panelRetinitis Pigmentosa via PRPF31 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the PRPF31 gene.
More info about this panelAutosomal Recessive Retinitis Pigmentosa Sequencing Panel with CNV Detection Panel
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 panelAutosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Autosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection that also includes the following genes: RHO ROM1 RP1 RPE65 SEMA4A BEST1 CA4 C1QTNF5 PRPF31 KLHL7
More info about this panelRetinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
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 panelComprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
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 panelPRPF31-Related Retinitis Pigmentosa Panel
By Bioscientia GmbH Center for Human Genetics
This panel specifically test the PRPF31 gene.
More info about this panelRetinitis pigmentosa type 11, autosomal dominant Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the PRPF31 gene.
More info about this panelRetinitis pigmentosa, autosomal dominant and X-linked Panel Panel
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 panelRetinitis pigmentosa, autosomal recessive and X-linked Panel Panel
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 panelSingle gene testing PRPF31 Panel
By CeGaT GmbH
This panel specifically test the PRPF31 gene.
More info about this panelAutosomal Recessive Retinitis Pigmentosa Panel
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 panelAutosomal Dominant Retinitis Pigmentosa Panel
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 panelEye diseases comprehensive panel Panel
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 panelRetinal Dystrophy Panel Panel
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 panelMVL Vision Panel Panel
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 panelRetinitis pigmentosa Panel
By VECMD VECMD Retinitis pigmentosa that also includes the following genes: RPE65 TULP1 CA4 PRPF31 PRPF8 CRB1 BBIP1 IMPDH1
More info about this panelPRPF31 Panel
By Division Human Genetics Medical University Innsbruck
This panel specifically test the PRPF31 gene.
More info about this panelRETINITIS PIGMENTOSA A.D Panel
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 panelRETINITIS PIGMENTOSA Panel
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 panelEye Disorders: Comprehensive Sequencing Panel Panel
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 panelRetinitis Pigmentosa: Sequencing and Deletion/Duplication Panel Panel
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 panelRetina/Photoreceptor Dystrophy: Sequencing Panel Panel
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 panelEye Disorders: Deletion/Duplication Panel Panel
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 panelEye Disorders NGS Panel Panel
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 panelRetinitis Pigmentosa NGS Panel Panel
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 panelPRPF31 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PRPF31 gene.
More info about this panelRetinal Dystrophy Panel Panel
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 panelRetinitis Pigmentosa Panel Panel
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 panelRETINITIS PIGMENTOSA (AUTOSOMAL DOMINANT) Panel
By Laboratorio de Genetica Clinica SL RETINITIS PIGMENTOSA (AUTOSOMAL DOMINANT) that also includes the following genes: RHO RP1 PRPF31 PRPF3 RDH12 IMPDH1 PRPH2
More info about this panelRETINITIS PIGMENTOSA NGS PANEL Panel
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 panelRetinitis Pigmentosa, Sequencing PRPF31 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the PRPF31 gene.
More info about this panelAutosomal Dominant Retinitis Pigmentosa, Panel Massive Sequencing (NGS) 27 Genes Panel
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 panelRetinitis Pigmentosa (Complet Panel) , Panel Massive Sequencing (NGS) 57 Genes Panel
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 panelNonsyndromic Autosomal Dominant Retinitis Pigmentosa: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Nonsyndromic Autosomal Dominant Retinitis Pigmentosa: gene sequencing panel that also includes the following genes: RHO ROM1 RP1 RP9 RPE65 SEMA4A SPP2 BEST1 CA4 PRPF31
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