ACTIONABILITY KNOWLEDGE REPOSITORY
ACTIONABILITY CURATION INTERFACE
Update History
Condition: Cerebral creatine deficiency syndromes
Gene/Gene Panel: SLC6A8, GAMT, GATM
Context: Pediatric
2024/06/05
Released
1.0.0
Morbidity due to creatine biosynthesis deficiency (AGAT deficiency)
(GroupE)
Referral to specialist to guide creatine supplementation
(GroupE)
8CC
Morbidity due to creatine biosynthesis deficiency (GAMT deficiency)
(GroupD)
Referral to specialist to guide creatine supplementation and dietary management
(GroupD)
9CC
Morbidity due to creatine transporter deficiency (males only) (CRTR deficiency)
(GroupC)
Referral to specialist to guide creatine, arginine, and glycine supplementation
(GroupC)
8CC
New report
Assertions
Gene Condition Pairs
Suggested Assertion
Final Assertion
SLC6A8
⇔
0000456 CEREBRAL CREATINE DEFICIENCY SYNDROME 1; CCDS1
Moderate Actionability
Limited Actionability
GAMT
⇔
0000456 CEREBRAL CREATINE DEFICIENCY SYNDROME 2; CCDS2
Moderate Actionability
Moderate Actionability
GATM
⇔
0000456 CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CCDS3
Moderate Actionability
Moderate Actionability
2021/08/10
In Preparation
N/A
We have begun assessment of the Pediatric context for this topic