GATM

glycine amidinotransferase
OMIM: 602360
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY 612718
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
Arginine:glycine amidinotransferase deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only), disorders of creatinine metabolism), arginine:glycine amidinotransferase deficiency, Cerebral creatine deficiency syndrome 3, 612718
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 3, 612718, ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY (AGAT DEFICIENCY)
R-numbers: R198
Signed-off version 2.23
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal fanconi syndrome and kidney failure (no MIM number), Cerebral creatine deficiency syndrome 3, 612718 (AR)
R-numbers: R202
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal fanconi syndrome and kidney failure
R-numbers: R257
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Renal fanconi syndrome and kidney failure