ACMG ACT Sheet |
https://www.acmg.net/ACMG/Medical-Genetics-Practice-Resources/ACT_Sheets_and_Algorithms.aspx |
algorithmic description of short-term actions a provider can take in the management of an individual with a subset of ACMG59 disorders; prepared by ACMG working group |
Clinical Genome Resource (ClinGen), Actionability |
https://clinicalgenome.org/curation-activities/clinical-actionability/ |
summaries of actionability assessments for genetic disorders, including evidence pertaining to penetrance of disease features and outcomes associated with specific interventions; reports and scoring provided by the ClinGen pediatric and adult actionability working groups |
Clinical Genome Resource (ClinGen), Gene-Disease Validity |
https://clinicalgenome.org/curation-activities/gene-disease-validity/ |
aggregation of evidence available for the association of a gene with a given disorder; strength of evidence assessed by the ClinGen gene-disease validity working group |
GeneReviews |
http://www.genereviews.org |
point-of-care resource for clinicians, written by experts on the specific condition and subject to peer review prior to publication; focus is on genetic disorders |
National Comprehensive Cancer Network (NCCN) |
https://www.nccn.org/ |
practice guidelines from alliance of cancer centers to guide decision making in the management of cancer, including suspected cancer predisposition syndromes |
UpToDate |
https://www.uptodate.com/ |
point-of-care resource for clinicians, written by experts on the specific condition and subject to peer review prior to publication |