Genomics England
GMS Panels
Panels
Genes and Entities

GATM

glycine amidinotransferase
OMIM: 602360
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY 612718
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral creatine deficiency syndrome 3, OMIM:612718
Green
in Likely inborn error of metabolism
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
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
Green
in Renal tubulopathies
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R198
Signed-off version 4.18
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fanconi renotubular syndrome 1, OMIM:134600
Green
in Tubulointerstitial kidney disease
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R202
Signed-off version 3.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Fanconi renotubular syndrome 1, OMIM:134600