Retinitis Pigmentosa 75; Rp75

Clinical Features

Phenotypes and symptoms related to Retinitis Pigmentosa 75; Rp75

  • Intellectual disability
  • Myopia
  • Blindness
  • Intellectual disability, mild
  • Rod-cone dystrophy
  • Pallor
  • Nyctalopia
  • Astigmatism
  • Peripheral visual field loss
  • Mixed astigmatism

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Retinitis Pigmentosa 75; Rp75 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Retinitis Pigmentosa Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SPP2, TULP1, USH2A, CLRN1, BEST1, ARL6, RPGRIP1, CA4, C1QTNF5, CDHR1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
AGBL5.

By Institute for Human Genetics University Clinic Freiburg (Germany).

AGBL5
Specificity
100 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 286 more genes
Specificity
1 %
Genes
100 %
AGBL5.

By Fulgent Genetics Fulgent Genetics (United States).

AGBL5
Specificity
100 %
Genes
100 %
Retinal Dystrophy Panel.

By Blueprint Genetics (Finland).

RGS9, RHO, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, RS1, CNNM4, SAG, CWC27, SDCCAG8, SEMA4A, SLC24A1, SPP2, TEAD1, ACO2, TIMM8A, TIMP3 , (...)

View the complete list with 239 more genes
Specificity
1 %
Genes
100 %
Retinitis Pigmentosa Panel.

By Blueprint Genetics (Finland).

RHO, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, RS1, SAG, CWC27, SEMA4A, SPP2, TTPA, TUB, TULP1, USH1C, CFAP410, USH2A, CLRN1, BEST1 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
RETINITIS PIGMENTOSA NGS PANEL.

By Laboratorio de Genetica Clinica SL (Spain).

RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, TULP1, USH2A, CLRN1, BEST1, ARL6, CA4, CDHR1, PRPF31, KLHL7, PRPF6 , (...)

View the complete list with 51 more genes
Specificity
2 %
Genes
100 %
Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics (Canada).

RHO, RLBP1, RP1, RPE65, SAG, TULP1, USH2A, CLRN1, BEST1, ARL6, ADGRA3, KIZ, ARL2BP, DHX38, TRNT1, IMPG2, POMGNT1, ZNF408, TTC8, SPATA7 , (...)

View the complete list with 35 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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