Retinitis Pigmentosa 78; Rp78
Table of contents:
Clinical Features
Phenotypes and symptoms related to Retinitis Pigmentosa 78; Rp78
- Rod-cone dystrophy
- Reduced visual acuity
- Pallor
- Nyctalopia
- Retinal degeneration
- Optic disc pallor
- Visual field defect
- Cystoid macular edema
- Photopsia
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 78; Rp78 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
ARHGEF18.
By Institute for Human Genetics University Clinic Freiburg (Germany).
ARHGEF18
Specificity
100 %
Genes
100 % |
ARHGEF18.
By Fulgent Genetics Fulgent Genetics (United States).
ARHGEF18
Specificity
100 %
Genes
100 % |
Retinal Dystrophy Panel.
By Blueprint Genetics (Finland).
RGS9, RHO, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, RS1, CNNM4, SAG, CWC27, SDCCAG8, SEMA4A, SLC24A1, SPP2, TEAD1, ACO2, TIMM8A, TIMP3 , (...)
View the complete list with 239 more genes
Specificity
1 %
Genes
100 % |
Cone Rod Dystrophy Panel.
By Blueprint Genetics (Finland).
RGS9, RPGR, CNNM4, SEMA4A, CFAP410, BEST1, RPGRIP1, CABP4, CACNA1F, CDHR1, ARHGEF18, ADAMTS18, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, CLN3, PITPNM3, CNGA3 , (...)
View the complete list with 22 more genes
Specificity
3 %
Genes
100 % |
Retinitis Pigmentosa Panel.
By Blueprint Genetics (Finland).
RHO, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, RS1, SAG, CWC27, SEMA4A, SPP2, TTPA, TUB, TULP1, USH1C, CFAP410, USH2A, CLRN1, BEST1 , (...)
View the complete list with 90 more genes
Specificity
1 %
Genes
100 % |
RETINITIS PIGMENTOSA NGS PANEL.
By Laboratorio de Genetica Clinica SL (Spain).
RHO, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, SAG, SEMA4A, TULP1, USH2A, CLRN1, BEST1, ARL6, CA4, CDHR1, PRPF31, KLHL7, PRPF6 , (...)
View the complete list with 51 more genes
Specificity
2 %
Genes
100 % |
You can get up to -2 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SPLIT-HAND/FOOT MALFORMATION 4; SHFM4 METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLC DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY ISOLATED TRIGONOCEPHALY OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8