Retinitis Pigmentosa 56; Rp56

Clinical Features

Top most frequent phenotypes and symptoms related to Retinitis Pigmentosa 56; Rp56

  • Cataract
  • Blindness
  • Rod-cone dystrophy
  • Reduced visual acuity
  • Pallor
  • Nyctalopia
  • Pigmentary retinopathy
  • Optic disc pallor
  • Abnormal retinal morphology
  • Subcapsular cataract

And another 2 symptoms. If you need more information about this disease we can help you.

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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 56; Rp56 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 %
IMPG2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

IMPG2
Specificity
100 %
Genes
100 %
IMPG2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

IMPG2
Specificity
100 %
Genes
100 %
IMPG2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

IMPG2
Specificity
100 %
Genes
100 %
IMPG2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

IMPG2
Specificity
100 %
Genes
100 %
Macular Degeneration Panel.

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

RPGR, TIMP3, BEST1, C1QTNF5, ELOVL4, RP1L1, CDH3, RAX2, IMPG2, HMCN1, CNGB3, CTNNA1, MFSD8, DRAM2, EFEMP1, ABCA4, FBLN5, FSCN2, GUCA1B, IMPG1 , (...)

View the complete list with 4 more genes
Specificity
5 %
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 %
IMPG2.

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

IMPG2
Specificity
100 %
Genes
100 %

We have 33 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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