Retinitis Pigmentosa 37; Rp37

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Genes related to Retinitis Pigmentosa 37; Rp37

NR2E3

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Retinitis Pigmentosa 37; Rp37

Cataract
Rod-cone dystrophy
Photophobia
Nyctalopia
Pigmentary retinopathy
Red-green dyschromatopsia
Undetectable light- and dark-adapted electroretinogram
Tritanomaly
Cystoid macular degeneration

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 37; Rp37 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NR2E3 Sequence Analysis. By Baylor Miraca Genetics Laboratories (United States). NR2E3 Specificity 100 % Genes 100 %
NR2E3 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories (United States). NR2E3 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 Panel complete gene list RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, SPP2, TULP1, USH2A, CLRN1, BEST1, ARL6, RPGRIP1, CA4, C1QTNF5, CDHR1, PRPF31, KLHL7, PRPF6, KIZ, ABHD12, RP1L1, ARL2BP, DHX38, PRPF8, PRPF3, PRPF4, MFRP, WDR19, IMPG2, POMGNT1, CHM, RD3, RDH12, ZNF408, TTC8, SPATA7, DHDDS, CLN3, CNGA1, CNGB1, EYS, TOPORS, CERKL, CYP4V2, CRB1, CRX, FLVCR1, OFD1, FAM161A, AGBL5, ZNF513, C8orf37, EMC1, CEP290, IFT140, SLC7A14, SNRNP200, LCA5, PRCD, ABCA4, PCARE, AIPL1, FSCN2, GUCA1B, GUCY2D, HK1, IDH3B, IMPDH1, LRAT, MAK, ARL3, MERTK, MVK, NEK2, NEUROD1, NR2E3, NRL, PDE6A, PDE6B, PDE6G, PRKCG, PROM1, BBS1, BBS2, RBP4, PRPH2, RGR Specificity 2 % Genes 100 %
NR2E3. By Institute for Human Genetics University Clinic Freiburg (Germany). NR2E3 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 Panel complete gene list RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, TULP1, USH2A, BEST1, RPGRIP1, CA4, CDHR1, PRPF31, KLHL7, PRPF8, PRPF3, RD3, RDH12, TTC8, SPATA7, DHDDS, CNGA1, CNGB1, EYS, TOPORS, CERKL, CRB1, CRX, CEP290, SNRNP200, LCA5, PRCD, ABCA4, PCARE, AIPL1, FSCN2, GUCA1B, GUCY2D, IDH3B, IMPDH1, LRAT, MERTK, NR2E3, NRL, PDE6A, PDE6B, PROM1, PRPH2, RGR Specificity 2 % Genes 100 %
NR2E3 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands). NR2E3 Specificity 100 % Genes 100 %
NR2E3. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). NR2E3 Specificity 100 % Genes 100 %
Retinitis pigmentosa type 37 (sequence analysis of NR2E3 gene). By CGC Genetics (Portugal). NR2E3 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

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