Cone-rod Dystrophy 5; Cord5
Clinical Features
Phenotypes and symptoms related to Cone-rod Dystrophy 5; Cord5
- Visual impairment
- Blindness
- Reduced visual acuity
- Photophobia
- Nyctalopia
- Macular degeneration
- Cone/cone-rod dystrophy
- Abnormality of color vision
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.Cone-rod Dystrophy 5; Cord5 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 % |
Cone-Rod Dystrophy Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
RPGR, CNNM4, SEMA4A, TULP1, CFAP410, BEST1, RPGRIP1, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, EYS, ADAM9, CERKL , (...)
View the complete list with 16 more genes
Specificity
3 %
Genes
100 % |
Cone-rod dystrophy 5 (sequence analysis of PITPNM3 gene).
By CGC Genetics (Portugal).
PITPNM3
Specificity
100 %
Genes
100 % |
Cone-rod dystrophy (NGS panel of 36 genes).
By CGC Genetics (Portugal).
RGS9, RPGR, CNNM4, SEMA4A, BEST1, RPGRIP1, CABP4, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, ADAM9, CERKL, CRX , (...)
View the complete list with 15 more genes
Specificity
3 %
Genes
100 % |
Cone-Rod Dystrophy via PITPNM3 Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
PITPNM3
Specificity
100 %
Genes
100 % |
Autosomal Dominant Retinitis Pigmentosa Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
RHO, ROM1, RP1, RPE65, SEMA4A, BEST1, CA4, C1QTNF5, PRPF31, KLHL7, PRPF6, PRPF8, PRPF3, PITPNM3, EYS, TOPORS, CRB1, CRX, EMC1, SNRNP200 , (...)
View the complete list with 9 more genes
Specificity
4 %
Genes
100 % |
Retinitis Pigmentosa (includes RPGR ORF15) Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
RHO, RLBP1, ROM1, RP1, RP2, RPE65, RPGR, SAG, SEMA4A, TULP1, USH2A, CLRN1, BEST1, ARL6, RPGRIP1, CA4, ADGRA3, CACNA1F, C1QTNF5, CDHR1 , (...)
View the complete list with 60 more genes
Specificity
2 %
Genes
100 % |
Cone-Rod Dystrophy Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
RGS9, RPGR, CNNM4, SEMA4A, CFAP410, BEST1, RPGRIP1, CABP4, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGB3, ADAM9, CERKL, CRX , (...)
View the complete list with 14 more genes
Specificity
3 %
Genes
100 % |
You can get up to 22 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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