ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Adult Summary Report Secondary Findings in Adult Subjects Non-diagnostic, excludes newborn screening & prenatal testing/screening Permalink A Current Version Rule-Out Dashboard Release History Status (Adult): Incomplete (Consensus scoring is Incomplete) Curation Status (Adult): Released - Under Revision 1.0.0 Status (Pediatric): Incomplete (Consensus scoring is Incomplete) P
GENE/GENE PANEL:
HADHA,
HADHB
Condition:
Disorders of the trifunctional protein complex
Actionability Assertion
Gene Condition Pairs(s)
Final Assertion
HADHA⇔0012172 (mitochondrial trifunctional protein deficiency; mtpd)
N/A - Insufficient evidence: early rule-out
HADHA⇔0012173 (long-chain 3-hydroxyacyl-coa dehydrogenase deficiency)
N/A - Insufficient evidence: early rule-out
HADHB⇔0012172 (mitochondrial trifunctional protein deficiency; mtpd)
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.