Retinitis Pigmentosa 70; Rp70

Clinical Features

Phenotypes and symptoms related to Retinitis Pigmentosa 70; Rp70

  • Cataract
  • Blindness
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Pallor
  • Nyctalopia
  • Congenital cataract
  • Retinal degeneration
  • Optic disc pallor

Incidence and onset information

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 70; Rp70 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 %
PRPF4.

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

PRPF4
Specificity
100 %
Genes
100 %
Retinitis pigmentosa (NGS panel for 72 genes).

By CGC Genetics (Portugal).

RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, TUB, TULP1, USH2A, CLRN1, BEST1, ARL6, CA4, ADGRA3, PRPF31, KLHL7 , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
Retinitis pigmentosa, AD and X-linked (NGS panel for 27 genes).

By CGC Genetics (Portugal).

RHO, ROM1, RP1, RP2, RP9, RPE65, RPGR, SEMA4A, BEST1, CA4, PRPF31, KLHL7, PRPF6, PRPF8, PRPF3, PRPF4, RDH12, TOPORS, CRX, SNRNP200 , (...)

View the complete list with 7 more genes
Specificity
4 %
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 %
Retinitis pigmentosa, autosomal dominant and X-linked Panel.

By CeGaT GmbH (Germany).

RHO, ROM1, RP1, RP2, RP9, RPE65, RPGR, SEMA4A, SPP2, BEST1, CA4, PRPF31, KLHL7, PRPF6, PRPF8, PRPF3, PRPF4, RDH12, TOPORS, CRX , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory (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 265 more genes
Specificity
1 %
Genes
100 %
MVL Vision Panel.

By Molecular Vision Laboratory (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 246 more genes
Specificity
1 %
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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