Case details

Case details panel is divided into three tabs:

• Case Info

• Family Tree

• Activity

How to see case details

Information on the currently selected case is displayed in the window that pops up when you click on the corresponding row of the Cases table. To close the window, click on the cross icon.

Information presented on the Case details panel:

##Case Info:

###1) Technical details:

1. Case ID

2. Case Type: Custom Panel, Exome, Whole Genome

3. Sample Type: FASTQ, Project VCF, VCF, BAM

4. Gene List - all genes or a particular gene list used to filter the analysis results

5. Human Reference - the genome reference used during case analysis

###2) Operational details:

1. Ordered by - user who created the case by default, and creation date

2. Signed by - user who finalizes the case

3. Related cases - lists the Case IDs for all the cases that share one or more samples with the one currently selected

4. Due Date - a deadline for finalizing the case. You can enter or edit the Due Date by clicking on the calendar icon under the Due Date section.

5. Participants - names of the users involved in the case submission, analysis, finalizing, or those who subscribed to receive updates on the case. To receive email notifications on your colleagues' activities in the particular case, click on the Subscribe icon.

###3) Clinical details:

1. Patient Information: Sex (33.0+) / Gender (32.0 and older), Age

2. Clinical Information:

• Proband Phenotypes - HPO terms used to describe clinical findings in the proband

• Suspected Disease: Suspected disease (if provided), Penetrance (%) and Severity (mild, moderate, severe, or profound)

• Maternal and Paternal ethnicity

• Parental Consanguinity

• Report secondary findings (Yes, No or N/A)

3. Clinical Note: any notes on proband's phenotypes, family history, or other critical points of the case.

Family Tree

Here you can find:

1. Graphic representation of the pedigree. More information about the symbols can be found here.

2. Sample information for each family member:

• Phenotypes: proband phenotypes and phenotypes reported for other family members (related and unrelated)

• Medical Condition (Healthy or Affected)

• Sex

• Age

• Maternal and Paternal ethnicity

• BAM file location

Activity

This tab logs actions related to the selected case such as Case status changes, variant tagging, ACMG pathogenicity, changes to an evidence graph, evidence notes, transcript changes for a specific variant, and comments added by users. Each log includes the date and time that each action was performed. We keep all logs for at least six years for full traceability.

You can choose All activities, Comments, or Case-related activities from a dropdown menu. To add a comment to the case, write it in the Write a new comment text field and click Add.