Retinitis Pigmentosa 57; Rp57

Clinical Features

Phenotypes and symptoms related to Retinitis Pigmentosa 57; Rp57

  • Edema
  • Rod-cone dystrophy
  • Pallor
  • Optic disc pallor
  • Constriction of peripheral visual field
  • Attenuation of retinal blood vessels
  • Macular edema
  • Cystoid macular edema

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 57; Rp57 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 %
PDE6G Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PDE6G
Specificity
100 %
Genes
100 %
PDE6G Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PDE6G
Specificity
100 %
Genes
100 %
PDE6G Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PDE6G
Specificity
100 %
Genes
100 %
PDE6G Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

PDE6G
Specificity
100 %
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 %
Retinitis pigmentosa 57 (sequence analysis of PDE6G gene).

By CGC Genetics (Portugal).

PDE6G
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 %

You can get up to 24 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 Symptoms Checker

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