Retinitis Pigmentosa 18; Rp18

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 18; Rp18

PRPF3

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Retinitis Pigmentosa 18; Rp18

Blindness
Rod-cone dystrophy
Nyctalopia
Retinal dystrophy
Visual field defect
Scotoma
Progressive visual field defects
Retinal arteriolar constriction

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 18; Rp18 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PRPF3 Comprehensive - Sequence & Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories (United States). PRPF3 Specificity 100 % Genes 100 %
PRPF3 Sequence Analysis (Prenatal Diagnosis). By Baylor Miraca Genetics Laboratories (United States). PRPF3 Specificity 100 % Genes 100 %
PRPF3 Deletion/Duplication Analysis. By Baylor Miraca Genetics Laboratories (United States). PRPF3 Specificity 100 % Genes 100 %
PRPF3 Sequence Analysis. By Baylor Miraca Genetics Laboratories (United States). PRPF3 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 %
PRPF3. By Institute for Human Genetics University Clinic Freiburg (Germany). PRPF3 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 %
Retinitis pigmentosa 18, AD (sequence analysis of PRPF3 gene). By CGC Genetics (Portugal). PRPF3 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Genetic Syndrome Finder

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