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): In Preparation Status (Adult): Passed (Consensus scoring is Complete) A
GENE/GENE PANEL:
LMNA,
EMD,
FHL1
Condition:
Emery-Dreifuss Muscular Dystrophy (AD, XL)
Mode(s) of Inheritance:
Autosomal Dominant
NOTICE
The 'Stage 2 Summary Report' is not available because currently,
this gene-disease pair is in preparation and undergoing curation.
this gene-disease pair is in preparation and undergoing curation.