Genomics England
GMS Panels
Panels
Genes and Entities

AGXT

alanine-glyoxylate aminotransferase
OMIM: 604285
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPEROXALURIA, PRIMARY, TYPE 1 259900
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 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary hyperoxaluria type I (Other peroxisomal disorders), Primary hyperoxaluria type I (Disorders of glyoxylate metabolism), Hyperoxaluria, primary, type 1
Green
in Nephrocalcinosis or nephrolithiasis
R-numbers: R256
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Hyperoxaluria Type 1, Primary Hyperoxaluria, Hyperoxaluria, primary, type 1, 259900, Hyperoxaluria, primary hyperoxaluria
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperoxaluria, primary, type 1, 259900, Primary Hyperoxaluria, Hyperoxaluria, primary hyperoxaluria, Primary Hyperoxaluria Type 1