Disease | |
|---|---|
Inheritance | Autosomal recessive |
Prevalence |
|
ClinGen / GenCC Curation / BabySeq (Document the source) | |
Clinical Validity Scoring Notes and points | Variant/Case Evidence: Segregation Evidence: Case/Control Evidence: Experimental Evidence: |
Clinical Validity Points Total and Classification | |
Molecular Mechanism | |
Penetrance | |
Age of Onset | |
Severity | |
Clinical Features | |
Gene SOPs & Notes | LINK if SOP is a long document. Short notes if it is easy to digest. eg. Last known truncating variant |
Curation Summary: | |
Case ID, Curator name, Date, Jira ticket link | Andrea Oza, 06/09/2023, CIT-127 - Getting issue details... STATUS |
General
Content
Integrations