Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome; Rdccas

Clinical Features

Top most frequent phenotypes and symptoms related to Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome; Rdccas

  • Pica
  • Cataract
  • Visual impairment
  • Patent ductus arteriosus
  • Reduced visual acuity
  • Coloboma
  • Retinal degeneration
  • Iris coloboma
  • Microcornea
  • Retinal dystrophy
And another 16 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome; Rdccas Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Retinitis Pigmentosa Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center in United States.

ABHD12, ZNF513, AIPL1, BEST1, NEUROD1, SPATA7, PRKCG, CHM, RP1, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1 , (...)

View the complete list with 72 more genes
Specificity
2 %
Genes
100 %
Retinitis pigmentosa (NGS panel for 72 genes).

By CGC Genetics in Portugal.

ZNF513, BEST1, SPATA7, RP1, ABCA4, ARL6, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1, CRX , (...)

View the complete list with 52 more genes
Specificity
2 %
Genes
100 %
Retinitis pigmentosa, AR and X-linked (NGS panel for 53 genes).

By CGC Genetics in Portugal.

ZNF513, BEST1, SPATA7, RP1, ABCA4, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK, DHDDS , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, NEUROD1, SPATA7, MMACHC, FBLN5, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, AMACR , (...)

View the complete list with 285 more genes
Specificity
1 %
Genes
100 %
Congenital Stationary Night Blindness Panel.

By CeGaT GmbH in Germany.

CACNA1F, SAG, RHO, PDE6B, SLC24A1, GRK1, TRPM1, CACNA2D4, GNAT1, CABP4, NYX, GRM6, LRIT3, GPR179, RBP4
Specificity
7 %
Genes
100 %
Retinitis pigmentosa, autosomal recessive and X-linked Panel.

By CeGaT GmbH in Germany.

ZNF513, BEST1, SPATA7, RP1, ABCA4, CLRN1, TTC8, USH2A, TULP1, SAG, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, CRB1, IDH3B, C8orf37, MERTK , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Microphthalmy Panel.

By CeGaT GmbH in Germany.

RAX, ABCB6, MFRP, OTX2, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, CHD7, NAA10, GDF6, RBP4, RARB, VAX1, FREM1, VSX2, BMP4, GDF3 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Eye diseases comprehensive panel.

By Asper Biogene Asper Biogene LLC in Estonia.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, OPN1MW, SPATA7, TYRP1, LRP5, COL2A1, VSX1, SLC45A2, PAX6, ZEB1, CHM, TGFBI, PITX3, TYR , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Retinal Dystrophy Panel.

By Molecular Vision Laboratory in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, AMACR, OPA1 , (...)

View the complete list with 267 more genes
Specificity
1 %
Genes
100 %
MVL Vision Panel.

By Molecular Vision Laboratory in United States.

ZNF513, USH1G, USH1C, BEST1, C12orf65, INVS, OPN1MW, OPN1LW, NEUROD1, SPATA7, MMACHC, LRP5, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 248 more genes
Specificity
1 %
Genes
100 %
Achromatopsia, Cone, and Cone-rod Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AIPL1, BEST1, PAX6, ABCA4, CACNA1F, CNGB3, CEP290, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GUCA1B, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Eye Disorders: Comprehensive Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, RP1, GPR143 , (...)

View the complete list with 190 more genes
Specificity
1 %
Genes
100 %
Congenital Stationary Night Blindness: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CACNA1F, SAG, RHO, PDE6B, SLC24A1, TRPM1, CACNA2D4, GNAT1, CABP4, NYX, GRM6, RDH5, LRIT3, GPR179, RBP4
Specificity
7 %
Genes
100 %
Macular Dystrophy / Degeneration / Stargardt Disease: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

BEST1, ELOVL4, ABCA4, CNGB3, PRPH2, RPGRIP1, RPGR, PROM1, GUCA1B, RDH12, FSCN2, TIMP3, EFEMP1, CDH3, RBP4
Specificity
7 %
Genes
100 %
Retinitis Pigmentosa: Sequencing and Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF513, AIPL1, BEST1, SPATA7, RP1, ABCA4, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG, RPGRIP1, RPGR, RPE65, RLBP1, RHO, PROM1, PDE6B, IMPDH1 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %
Retina/Photoreceptor Dystrophy: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ZNF513, AIPL1, BEST1, SPATA7, LRP5, COL2A1, PAX6, CHM, RP1, OPA1, ELOVL4, ABCA4, CACNA1F, NDP, OTX2, CNGB3, KCNJ13, CEP290, CLRN1, TTC8 , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
100 %
Achromatopsia, Cone, and Cone-rod Dystrophy: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AIPL1, BEST1, PAX6, ABCA4, CACNA1F, CNGB3, CEP290, PRPH2, RPGRIP1, RPGR, PROM1, GUCY2D, CRX, C8orf37, GUCA1B, GNAT2, CDHR1, PDE6C, ADAM9, CACNA2D4 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %
Congenital Stationary Night Blindness: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

CACNA1F, SAG, RHO, PDE6B, SLC24A1, TRPM1, CACNA2D4, GNAT1, CABP4, NYX, GRM6, RDH5, LRIT3, GPR179, RBP4
Specificity
7 %
Genes
100 %
Eye Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, TYRP1, LRP5, COL2A1, OCA2, SLC45A2, WT1, PAX6, CHM, PITX3, TYR, PDZD7, RP1 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Eye Disorders NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

ZNF513, AIPL1, USH1C, BEST1, INVS, SPATA7, COL2A1, PAX6, CHM, RB1, RP1, OPTN, OPA1, WFS1, CC2D2A, FOXC1, ELOVL4, PITX2, ABCA4, JAG1 , (...)

View the complete list with 118 more genes
Specificity
1 %
Genes
100 %
RBP4.

By Fulgent Genetics Fulgent Genetics in United States.

RBP4
Specificity
100 %
Genes
100 %
Retinal Dystrophy Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1G, USH1C, BEST1, INVS, SPATA7, MMACHC, LRP5, COL2A1, PRKCG, CHM, PDZD7, RP1, INPP5E, OPA1, WFS1, CC2D2A, ELOVL4 , (...)

View the complete list with 240 more genes
Specificity
1 %
Genes
100 %
Retinitis Pigmentosa Panel.

By Blueprint Genetics in Finland.

ABHD12, ZNF513, AIPL1, USH1C, BEST1, SPATA7, PRKCG, CHM, RP1, INPP5E, ABCA4, MFRP, ARL6, CEP290, CLRN1, TTC8, USH2A, PRPH2, TULP1, SAG , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel.

By Blueprint Genetics in Finland.

FOXL2, RAX, PAX6, ABCB6, OCRL, FOXC1, PITX2, MFRP, NDP, OTX2, CYP1B1, SHH, STRA6, HCCS, BCOR, SIX6, SOX2, HESX1, PAX2, CHD7 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %

Alternate names

Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome; Rdccas Is also known as ;retinol dystrophy-iris coloboma-comedogenic acne syndrome.



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