Age of the patient Gender RED VAR Panel Lead Name Centre Suspected diagnosis orphacode XX Center name followed by patient inclusion number eg CARGO01 ID: 1047634
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1. Patient :Panel Nickname* :Age of the patient:Gender :RED VARPanel LeadName :Centre :Suspected diagnosis orphacode : XX* Center name followed by patient inclusion number, e.g. CARGO01
2. Medical historyRelevant Medical History
3. Family HistoryRelevant family history Family treeConsanguinity: yes/no/unknown/suspectedNumber of persons affected :Suspected mode of transmission :Persons available to be sampled :
4. Genetic tests performedDate :Type of test: Sanger, CGH-array, panel, whole exome (WES),...Diagnostic laboratory :Name of the biologist who signed the result :Disease group tested (Panel name) :Number of genes tested :Results: gene(s)/variant(s)/classification of variant(s)
5. Date :Visual FieldPlease add a screenshot (anonymized) of the exam here
6. OSODRefraction and visual acuityDate :
7. Date :FundusDate of the examination :ODOSRelevant comments:
8. Date :AutofluorescenceDate of the examination ::ODOSRelevant comments :
9. Date :OCTDate of the examination :ODOSRelevants comments :
10. Date :ElectrophysiologyLocation:Please add a screenshot (anonymized) of the exam here
11. Conclusions(Suspected diagnosis orphacode : XXPersons available to be sampled :Decision : Accepted/Refused