Cone-rod Dystrophy 7; Cord7

Clinical Features

Top most frequent phenotypes and symptoms related to Cone-rod Dystrophy 7; Cord7

  • Visual impairment
  • Reduced visual acuity
  • Abnormality of skin pigmentation
  • Macular degeneration
  • Cone/cone-rod dystrophy
  • Abnormality of color vision
  • Macular dystrophy
  • Macular atrophy
  • Bull's eye maculopathy
  • Retinal flecks

And another 1 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including adult 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 7; Cord7 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 7 (sequence analysis of RIMS1 gene).

By CGC Genetics (Portugal).

RIMS1
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 %
Autosomal Dominant Cone-Rod Dystrophy via RIMS1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RIMS1
Specificity
100 %
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 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, RS1, CNNM4, SAG, SDCCAG8, SEMA4A, SLC24A1, SLC4A7, SPP2, PLK4, TEAD1 , (...)

View the complete list with 286 more genes
Specificity
1 %
Genes
100 %
Cone-rod dystrophy type 7.

By Centogene AG - the Rare Disease Company (Germany).

RIMS1
Specificity
100 %
Genes
100 %

You can get up to 20 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

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