Cone-rod Dystrophy 19; Cord19

Clinical Features

Phenotypes and symptoms related to Cone-rod Dystrophy 19; Cord19

  • Visual impairment
  • Retinal dystrophy
  • Cone/cone-rod dystrophy
  • Cone dysfunction syndrome

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 19; Cord19 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 (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 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 Dystrophies Panel.

By CeGaT GmbH (Germany).

RGS9, RPGR, CNNM4, SEMA4A, CFAP410, RPGRIP1, CABP4, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, ADAM9, CERKL, CYP4V2 , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Stargardt Disease and Macular Dystrophies Panel.

By CeGaT GmbH (Germany).

RPGR, TIMP3, BEST1, C1QTNF5, ELOVL4, RP1L1, CDH3, IMPG2, TTLL5, RDH12, CLN3, CNGB3, CRB1, CRX, CTNNA1, MFSD8, DRAM2, ABCA4, FSCN2, IMPG1 , (...)

View the complete list with 2 more genes
Specificity
5 %
Genes
100 %
Cone-Rod Dystrophy.

By Asper Biogene Asper Biogene LLC (Estonia).

RPGR, CNNM4, SEMA4A, BEST1, RPGRIP1, CABP4, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGB3, ADAM9, CERKL, CRX, C8orf37, POC1B , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC (Estonia).

RGS9, RHO, GRK1, RLBP1, ROM1, RP1, RP2, RP9, RPE65, RPGR, BFSP2, RS1, CNNM4, SAG, SDCCAG8, BMP4, SEMA4A, SIX6, SLC24A1, SOX2 , (...)

View the complete list with 259 more genes
Specificity
1 %
Genes
100 %

You can get up to 8 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like USHER SYNDROME, TYPE IID; USH2D MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 2; HPMRS2 CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH OR WITHOUT PULMONARY DYSFUNCTION; CAHTP AL KAISSI SYNDROME; ALKAS LYMPHOMA, MUCOSA-ASSOCIATED LYMPHOID TYPE