Retinitis Pigmentosa 40; Rp40

Clinical Features

Phenotypes and symptoms related to Retinitis Pigmentosa 40; Rp40

  • Rod-cone dystrophy
  • Abnormal light- and dark-adapted electroretinogram

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.

Retinitis Pigmentosa 40; Rp40 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
PDE6B Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PDE6B
Specificity
100 %
Genes
100 %
PDE6B Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

PDE6B
Specificity
100 %
Genes
100 %
PDE6B Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PDE6B
Specificity
100 %
Genes
100 %
PDE6B Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PDE6B
Specificity
100 %
Genes
100 %
Congenital Stationary Night Blindness Panel.

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

RHO, GRK1, SAG, SLC24A1, CABP4, CACNA1F, LRIT3, GPR179, GNAT1, GNB3, GRM6, TRPM1, NYX, PDE6B, RDH5
Specificity
7 %
Genes
100 %
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 %
PDE6B.

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

PDE6B
Specificity
100 %
Genes
100 %

You can get up to 48 more panels with our dedicated tool

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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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