ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Pediatric Summary Report Secondary Findings in Pediatric Subjects Non-diagnostic, excludes newborn screening & prenatal testing/screening Permalink P Current Version Rule-Out Dashboard Release History Status (Pediatric): Incomplete (Consensus scoring is Incomplete) Curation Status (Pediatric): Released 1.0.1 Status (Adult): Passed (Consensus scoring is Complete) A
GENE/GENE PANEL:
MSH6,
MSH2,
PMS2,
MLH1,
EPCAM
Condition:
Lynch Syndrome
Mode(s) of Inheritance:
Autosomal Dominant
Actionability Assertion
Gene Condition Pairs(s)
Final Assertion
MSH6⇔0013710 (colorectal cancer, hereditary nonpolyposis, type 5)
N/A - Insufficient evidence: early rule-out
MSH2⇔0007356 (lynch syndrome 1)
N/A - Insufficient evidence: early rule-out
PMS2⇔0013699 (colorectal cancer, hereditary nonpolyposis, type 4)
N/A - Insufficient evidence: early rule-out
MLH1⇔0012249 (colorectal cancer, hereditary nonpolyposis, type 2)
N/A - Insufficient evidence: early rule-out
EPCAM⇔0013196 (colorectal cancer, hereditary nonpolyposis, type 8)
N/A - Insufficient evidence: early rule-out
NOTICE
The 'Stage 2 Summary Report' is not available because as of the most recent update,
this gene-disease pair did not pass the Stage 1 Rule-Out survey.
this gene-disease pair did not pass the Stage 1 Rule-Out survey.