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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HYPEROXALURIA, PRIMARY, TYPE 1 259900
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hyperoxaluria, primary, type 1, 259900, Renal failure and deposition of calcium oxalate crystals in tissues including nerve and muscle. Sensory and motor axonal neuropathy (some slowing)
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 7.0
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
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R256
Signed-off version 4.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Primary Hyperoxaluria Type 1, Primary Hyperoxaluria, Hyperoxaluria, primary, type 1, 259900, Hyperoxaluria, primary hyperoxaluria