Editing an existing case

If you need to update your case details, adjust phenotypes, change the gene list, or customize disease information for reporting, Emedgene allows you to edit an existing case directly from the interface. Depending on what you modify, some edits may prompt reanalysis, while others will simply be saved without triggering a new run.

Important: Not all changes are supported. Certain modifications must be handled by creating a new case.

How to edit case data:

1. Open a case you wish to edit,

2. Click the Edit Case Info button in the top right corner.

3. This will open the Add new case flow where you can modify fields across the following sections:

   1. Family Tree

   2. Select Gene List

   3. Select Preset

   4. Additional Case Info (in the Case Info Screen)

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

Edits that won't affect the the AI Shortlist analysis, thus won't prompt reanalysis:

1. Family tree screen:

   1. Clinical Notes,

   2. Patient Ethnicities,

   3. Suspected Disease Severity,

   4. Proband Suspected Disease Condition,

   5. Suspected Disease Penetrance.

2. Case info screen:

   1. Indication for testing,

   2. Preset.

Edits that will affect the the AI Shortlist analysis, thus will trigger reanalysis:

1. Family tree screen:

   1. Proband Phenotypes,

   2. Medical Condition.

2. Case info screen:

   1. Genes list;

   2. Case Type.

⚠️ Prohibited or unsupported changes

• Any modifications outside the above lists may lead to reanalysis failure. In such cases, it’s safer to create a new case.

• The system does not currently block unsupported edits in the interface — please follow this documentation carefully.

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

What happens during reanalysis

When you confirm reanalysis:

• Case status changes to Reanalysis.

• AI Shortlist is recalculated with updated data.

• Variant-level evidence from the first run is cleared, except for user-tagged variants.

Preserved for user-tagged variants:

1. Tag value

2. Variant interpretation notes

3. Pathogenicity

4. Selected transcript

5. ACMG tags and notes

6. Sanger and Sanger notes

At the case level, any selected Presets remain saved.

Tip: Reanalysis has been made more robust for older cases and for carrier analyses, so these case types now reprocess more reliably.

Save without reanalysis

If you choose Save instead of Reanalyze:

• Your edits are stored without rerunning the analysis.

• Note: Changing proband phenotypes may affect the results of Phenomatch filters.

• The right-hand Case Details panel will remind you that reanalysis is recommended.

Additional considerations:

• When updating HPO terms, older terms may not map automatically in reanalysis. Review carefully before finalizing.

• After reanalysis, some input files may not appear immediately in the Versions tab.

• Editing interpretation notes may create an activity entry labeled as reanalysis. This does not affect case results but may appear in the audit trail.

• If you replace the gene list, the original list is not displayed in the Activity log.

Tips:

• Always check whether your edit will trigger reanalysis before proceeding.

• Keep edits to delivered cases within the supported fields to avoid errors.

• For sensitive inputs (like phenotypes or gene lists), plan to rerun the case to ensure results reflect the most up-to-date information.

• If uncertain, use the Save option first, then decide if reanalysis is needed.