Multiple Endocrine Neoplasia Type IIB

Actionability Adult Summary Report

Gene: RET (HGNC:9967)
Mode(s) of Inheritance:Autosomal Dominant
Literature Search: 03/06/2019
Curation Status: Released (2.1.3)
Release History
Related Reports
Pediatric Summary Report: (1.1.3)

Secondary Findings in Adult Subjects. Non-diagnostic, excludes newborn screening & prenatal testing/screening.

The Actionability Summary Report is not available for this topic because there was insufficient evidence for actionability in the early rule out stage.

Actionability Assertions

Gene Condition (MONDO ID) OMIM ID Final Assertion
RET multiple endocrine neoplasia type 2B (0008082) 162300 Assertion Pending

Actionability Assertion Rationale

  • This topic was initially scored prior to development of the process for making actionability assertions. The Actionability Working Group decided to defer making an assertion until after the topic could be reviewed through the update process.

Actionability Scores

Outcome / Intervention Pair Severity Likelihood Effectiveness Nature of Intervention Total Score
No scores were found.

Early Rule-Out Summary

This topic did not pass the early rule out stage due to insufficient evidence for actionability. Thus, this topic did not move forward for a full evidence curation and summary report. This topic may be reconsidered if additional evidence becomes available.

Findings of Early Rule-Out Assessment

  1. Is there a qualifying resource, such as a practice guideline or systematic review, for the genetic condition?
  2. Does the practice guideline or systematic review indicate that the result is actionable in one or more of the following ways?

    3. a. Patient Management

    b. Surveillance or Screening

    c. Circumstances to Avoid

  3. Is it actionable in an undiagnosed adult with the condition?
  4. Is this condition an important health problem?
  5. Is there at least on known pathogenic variant with at least moderate penetrance (≥40%) or moderate relative risk (≥2) in any population?