Familial Drusen

Incidence and onset information

Alternative names

Familial Drusen Is also known as doyne honeycomb degeneration of retina, malattia leventinese, dominant drusen, dhd, doyne honeycomb retinal dystrophy, dominant radial drusen, dhrd.

Researches and researchers

Doctors, researchs, and experts related to Familial Drusen extracted from public data.

Familial Drusen Experts map

Current Researchs and researchers

• BIRMINGHAM — Pr Eamonn R MAHER

  Investigator of research project - Coordinator of research network
  
  

  • Institution/s:
    — University of Birmingham School of Medicine, Institute of Biomedical Research, University of Birmingham
    — Birmingham Women's NHS Foundation Trust
    — Addenbrooke's Hospital
  • Research area/topic::
    

    National Autozygosity Mapping Resource



• BIRMINGHAM — Ms Shanaz PASHA

  Coordinator of research network
  
  

  • Institution/s:
    — Birmingham Women's NHS Foundation Trust
  • Research area/topic::
    

    National Autozygosity Mapping Resource



• CAMBRIDGE — Pr Eamonn R MAHER

  Investigator of research project - Coordinator of research network
  
  

  • Institution/s:
    — University of Birmingham School of Medicine, Institute of Biomedical Research, University of Birmingham
    — Birmingham Women's NHS Foundation Trust
    — Addenbrooke's Hospital
  • Research area/topic::
    

    National Autozygosity Mapping Resource

Familial Drusen Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Test for CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II. By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands). CFH Specificity 100 % Genes 34 %
Test for CFH-Related Atypical Hemolytic-Uremic Syndrome. By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands). CFH Specificity 100 % Genes 34 %
AHUS/MPGN panel. By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands). CFB, THBD, C3, APLN, CFHR5, CFH, CFI, CD46 Specificity 25 % Genes 67 %
Genetic Renal Panel. By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States). CFB, THBD, C3, ADAMTS13, CFHR3, MMACHC, CFHR5, DGKE, CFH, CFHR1, CFI, CD46, PLG Specificity 16 % Genes 67 %
Atypical Hemolytic Uremic Syndrome (aHUS) Genetic Susceptibility Panel. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). CFB, THBD, C3, CFHR3, CFHR5, DGKE, CFH, CFHR1, CFI, CD46 Specificity 20 % Genes 67 %
CFH Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). CFH Specificity 100 % Genes 34 %
Thrombocytopenia Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). CFB, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, RUNX1T1, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26 , (...) View the complete list with 23 more genes Panel complete gene list CFB, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, RUNX1T1, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26, NBEAL2, SLFN14, ETV6, FLI1, FLNA, FYB1, GATA1, GATA2, GFI1B, GP1BA, GP1BB, GP9, CFH, CFHR1, HOXA11, CFI, ITGA2B, ITGB3, CD46, MPL, MYH9, PRKACG, RBM8A Close Specificity 5 % Genes 67 %
Thrombocytopenia Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). CFB, RUNX1, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26 , (...) View the complete list with 23 more genes Panel complete gene list CFB, RUNX1, SRC, TERC, TERT, THBD, VWF, WAS, C3, ADAMTS13, ABCG5, ABCG8, TUBB1, ACTN1, CFHR4, CFHR3, CYCS, CFHR5, DGKE, ANKRD26, NBEAL2, SLFN14, ETV6, FLI1, FLNA, FYB1, GATA1, GATA2, GFI1B, GP1BA, GP1BB, GP9, CFH, CFHR1, HOXA11, CFI, ITGA2B, ITGB3, CD46, MPL, MYH9, PRKACG, RBM8A Close Specificity 5 % Genes 67 %

Sources and references

You can check the following sources for additional information.

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