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 1.0.0 Status (Adult): Passed (Consensus scoring is Complete) A
GENE/GENE PANEL:
PMP22
Condition:
Hereditary Neuropathy with Liability to Pressure Palsies
Mode(s) of Inheritance:
Autosomal Dominant
Actionability Assertion
Gene Condition Pairs(s)
Final Assertion
PMP22⇔0008087 (neuropathy, hereditary, with liability to pressure palsies; hnpp)
N/A - Insufficient evidence: early rule-out
NOTICE
The 'Stage 2 Summary Report' is not available because at this version,
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.