ClinGen Actionability Working Group aims to identify those human genes that, when significantly altered, confer a high risk of serious disease that could be prevented or mitigated if the risk were known.

Goals of ClinGen Actionability Working Group:

  • Develop rigorous and standardized procedures for categorically defining “clinical actionability”; a concept that includes a known ability to intervene and thereby avert a poor outcome due to a previously unsuspected high risk of disease

  • Nominate genes and diseases to score for “clinical actionability”

  • Produce evidence-based reports and semi-quantitative metric scores using a standardized method for nominated gene disease pairs

  • Make these reports and actionability scores publicly available to aid broad efforts for prioritizing those human genes with the greatest relevance for clinical intervention

Adult Actionability Working Group

The curation interface to score outcome/interventions for adults:

Adult AWG

Pediatric Actionability Working Group

The curation interface to score outcome/interventions for pediatric subjects:

Ped AWG

Services available here provide interface to curate data by ClinGen Actionability WG.

A RESTful API serves Clinical Actionability content as structured documents.

  • However, that API directly exposes the underlying storage system.
  • Development of a clearer and more useful replacement API is underway.

This site also maintains an Issue tracker for the actionability core group to facilitate development of the curation interface.

Reset Password - If you do not remember your password, you can reset your password using this option. You will then receive a temporary password in your email. Use the temporary password to login to the system and change your password by using the link below.
Change Password - Use this to change your current password.

Services available here are collaborative efforts between ClinGen Actionability Working Group and the Informatics team at Baylor College of Medicine. The engineering aspects of the development of this software application is led by Sameer Paithankar.