Retinitis Pigmentosa 54; Rp54

Clinical Features

Top most frequent phenotypes and symptoms related to Retinitis Pigmentosa 54; Rp54

  • Nystagmus
  • Visual impairment
  • Blindness
  • Rod-cone dystrophy
  • Nyctalopia
  • Retinal degeneration
  • Corneal dystrophy
  • Cone/cone-rod dystrophy
  • Abnormal electroretinogram
  • Albinism

And another 6 symptoms. If you need more information about this disease we can help you.

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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 54; Rp54 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 %
C2orf71 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PCARE
Specificity
100 %
Genes
100 %
C2orf71 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PCARE
Specificity
100 %
Genes
100 %
C2orf71 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PCARE
Specificity
100 %
Genes
100 %
C2orf71 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

PCARE
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 %
PCARE.

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

PCARE
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 Genetic Syndrome Finder

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