Editing an existing case

If you would like to update or make corrections your case details, phenotypes or gene list, you have the option to edit the case and save or reanalyze the data.

To do this:

1. Open a case,

2. Press Edit case info button in the top right corner,

3. You'll access the Add new case flow. You can edit any information on the Family tree screen, as well as Select genes list, Select preset, and Additional case info sections of the Case info screen.

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Note: When dealing with delivered cases, only specific data can be modified before initiating re-analysis:

1. Edits that won't affect the the _AI Shortlist_** analysis, thus won't prompt re-analysis:**

• Family tree screen:

  • Clinical Notes,

  • Patient Ethnicities,

  • Suspected Disease Severity,

  • Proband Suspected Disease Condition,

  • Suspected Disease Penetrance.

• Case info screen:

  • Indication for testing,

  • Preset.

2. Edits that will affect the the _AI Shortlist_** analysis, thus will trigger re-analysis:**

• Family tree screen:

  • Proband Phenotypes,

  • Medical Condition.

• Case info screen:

  • Genes list;

  • Case Type.

⚠️ Any other modifications might result in reanalysis failure, so it's advisable to create a new case instead of modifying beyond these specified fields.

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4. After you've finished editing the case and pressed Next in the Case info screen, a window will pop up:

A. _Reanalyze_

Select Reanalyze if you want to rerun the case.

The reanalysis will update the annotation with the latest ones available and rerun the AI Shortlist analysis. Since analysis output depends upon the data entered, we highly recommended rerunning the edited case. Case status will change to Re-analysis.

Importantly, variant-level evidence from the first run is erased during reanalysis, EXCEPT for variants tagged by or confirmed by the user. Please find below a list of variant level evidences saved for variants tagged by the user during reanalysis:

1. Tag value

2. Variant interpretation notes

3. Pathogenicity

4. Selected transcript

5. ACMG tags and notes

6. Sanger and Sanger notes

In addition, at a case level, the checked Presets will be saved as well.

B. _Save_

Select Save if you want to save changes without rerunning the case. Keep in mind that if you've changed Proband phenotypes, results from Phenomatch filters still may change. A reminder that case data has been modified and prompt to launch reanalysis on the updated data will appear in the Case details panel on the right*.*