Retinitis Pigmentosa 13; Rp13

Clinical Features

Phenotypes and symptoms related to Retinitis Pigmentosa 13; Rp13

  • Blindness
  • Rod-cone dystrophy
  • Nyctalopia
  • Retinal degeneration
  • Cone/cone-rod dystrophy
  • Constriction of peripheral visual field
  • Hypopigmentation of the fundus
  • 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.)
— The onset for some of the known clinical features related to this disease may vary, including juvenile 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 13; Rp13 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®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 %
PRPF8 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PRPF8
Specificity
100 %
Genes
100 %
PRPF8 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

PRPF8
Specificity
100 %
Genes
100 %
PRPF8 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PRPF8
Specificity
100 %
Genes
100 %
PRPF8 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PRPF8
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 %
PRPF8.

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

PRPF8
Specificity
100 %
Genes
100 %
Retinitis Pigmentosa/Leber Congenital Amaurosis Panel, Sequencing and Deletion/Duplication.

By ARUP Laboratories, Molecular Genetics and Genomics (United States).

RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, TULP1, USH2A, BEST1, RPGRIP1, CA4, CDHR1, PRPF31, KLHL7, PRPF8, PRPF3 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %

You can get up to 35 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

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