GAMT

guanidinoacetate N-methyltransferase
OMIM: 601240
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY 612736
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral creatine deficiency syndrome 2, 612736, Seizures, Deficiency of guanidinoacetate methyltransferase, GAMT deficiency
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral creatine deficiency syndrome 2 612736
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral creatine deficiency syndrome 2, 612736, GUANIDINOACETATE METHYLTRANSFERASE DEFICIENCY (GAMT DEFICIENCY)