Retinitis Pigmentosa 28; Rp28

Clinical Features

Phenotypes and symptoms related to Retinitis Pigmentosa 28; Rp28

  • Blindness
  • Rod-cone dystrophy
  • Pallor
  • Nyctalopia
  • Retinal dystrophy
  • Optic disc pallor
  • Constriction of peripheral visual field
  • Bone spicule pigmentation of the retina

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 28; Rp28 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 %
FAM161A Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

FAM161A
Specificity
100 %
Genes
100 %
FAM161A Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

FAM161A
Specificity
100 %
Genes
100 %
FAM161A Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

FAM161A
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 %
FAM161A.

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

FAM161A
Specificity
100 %
Genes
100 %
Retinitis pigmentosa 28 (sequence analysis of FAM161A gene).

By CGC Genetics (Portugal).

FAM161A
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 29 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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