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 1.0.1 Status (Pediatric): Passed (Consensus scoring is Complete) P
GENE/GENE PANEL:
SLC6A8,
GAMT,
GATM
Condition:
Cerebral creatine deficiency syndromes
Mode(s) of Inheritance:
Autosomal Recessive,
Autosomal Recessive,
X-linked
Actionability Assertion
Gene Condition Pairs(s)
Final Assertion
SLC6A8⇔0000456 (cerebral creatine deficiency syndrome)
N/A - Insufficient evidence: early rule-out
GAMT⇔0000456 (cerebral creatine deficiency syndrome)
N/A - Insufficient evidence: early rule-out
GATM⇔0000456 (cerebral creatine deficiency syndrome)
N/A - Insufficient evidence: early rule-out
NOTICE
The 'Stage 2 Summary Report' is not available because as of the most recent update,
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.