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 0.0.0 Status (Adult): Incomplete (Consensus scoring is Incomplete) A
GENE/GENE PANEL:
SLC6A8,
GAMT,
GATM
Condition:
Cerebral creatine deficiency syndromes
NOTICE
The 'Stage 2 Summary Report' is not available because at this version,
this gene-disease pair was in preparation and undergoing curation.
this gene-disease pair was in preparation and undergoing curation.