Retinal Cone Dystrophy 3a; Rcd3a

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 Retinal Cone Dystrophy 3a; Rcd3a

PDE6H

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Retinal Cone Dystrophy 3a; Rcd3a

Nystagmus
Myopia
Blindness
Visual loss
Reduced visual acuity
Photophobia
Nyctalopia
Cone/cone-rod dystrophy
Abnormality of color vision
Scotoma

And another 6 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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.

Alternative names

Retinal Cone Dystrophy 3a; Rcd3a Is also known as cone dystrophy with night blindness and supernormal rod responses, pde6h-related.

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.

Retinal Cone Dystrophy 3a; Rcd3a 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 Panel complete gene list RPGR, CNNM4, SEMA4A, TULP1, CFAP410, BEST1, RPGRIP1, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, EYS, ADAM9, CERKL, CRB1, CRX, C8orf37, POC1B, ABCA4, AIPL1, GNAT2, GUCA1A, GUCY2D, ATF6, PDE6C, PDE6H, PROM1, RAB28, RDH5, PRPH2 Specificity 3 % Genes 100 %
PDE6H. By Institute for Human Genetics University Clinic Freiburg (Germany). PDE6H Specificity 100 % Genes 100 %
Achromatopsia 6 (sequence analysis of PDE6H gene). By CGC Genetics (Portugal). PDE6H 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 Panel complete gene list RGS9, RPGR, CNNM4, SEMA4A, BEST1, RPGRIP1, CABP4, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGA3, CNGB3, ADAM9, CERKL, CRX, C8orf37, RGS9BP, POC1B, ABCA4, AIPL1, GNAT2, GUCA1A, GUCY2D, PCYT1A, PDE6C, PDE6H, PROM1, RAB28, RDH5, PRPH2 Specificity 3 % Genes 100 %
Achromatopsia 6 or Retinal Cone Dystrophy 3 via PDE6H Gene Sequencing with CNV Detection. By PreventionGenetics PreventionGenetics (United States). PDE6H Specificity 100 % Genes 100 %
Leber Congenital Amaurosis Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, RD3, RDH12, SPATA7, INPP5E, CNGA3, CNGB3, CRB1, CRX, IQCB1, CEP290, SNRNP200, LCA5, AIPL1, DTHD1, GNAT2 , (...) View the complete list with 8 more genes Panel complete gene list RPE65, TULP1, RPGRIP1, CABP4, NMNAT1, RD3, RDH12, SPATA7, INPP5E, CNGA3, CNGB3, CRB1, CRX, IQCB1, CEP290, SNRNP200, LCA5, AIPL1, DTHD1, GNAT2, GUCY2D, IMPDH1, KCNJ13, LRAT, MERTK, OTX2, PDE6H, PRPH2 Specificity 4 % 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 Panel complete gene list RGS9, RPGR, CNNM4, SEMA4A, CFAP410, BEST1, RPGRIP1, CABP4, CACNA1F, CDHR1, RIMS1, RAX2, KCNV2, TTLL5, CACNA2D4, PITPNM3, CNGB3, ADAM9, CERKL, CRX, C8orf37, DRAM2, RGS9BP, POC1B, ABCA4, AIPL1, GUCA1A, GUCY2D, PDE6C, PDE6H, PROM1, RAB28, RDH5, PRPH2 Specificity 3 % Genes 100 %
Achromatopsia (ACHM) Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics (United States). CNGA3, CNGB3, GNAT2, ATF6, PDE6C, PDE6H Specificity 17 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Genetic Syndrome Finder

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