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 2.0.4 Status (Pediatric): Passed (Consensus scoring is Complete) P
GENE/GENE PANEL:
MUT,
MMAA,
MMAB,
MMADHC,
MCEE
Condition:
Methylmalonic Acidemia
Mode(s) of Inheritance:
Autosomal Recessive
Actionability Assertion
Gene Condition Pairs(s)
Final Assertion
MUT⇔0009612 (methylmalonic aciduria due to methylmalonyl-coa mutase deficiency)
N/A - Insufficient evidence: early rule-out
MMAA⇔0009613 (methylmalonic aciduria, cbla type)
N/A - Insufficient evidence: early rule-out
MMAB⇔0009614 (methylmalonic aciduria, cblb type)
N/A - Insufficient evidence: early rule-out
MMADHC⇔0010185 (methylmalonic aciduria and homocystinuria, cbld type; mahcd)
N/A - Insufficient evidence: early rule-out
MCEE⇔0009615 (methylmalonyl-coa epimerase deficiency)
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.