Genomics England
GMS Panels
Panels
Genes and Entities

PNPO

pyridoxamine 5'-phosphate oxidase
OMIM: 603287
PanelMode of inheritanceDetails
2 panels
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyridoxamine 5'-phosphate oxidase deficiency, 610090
Green
in Inborn errors of metabolism
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyridoxamine 5 -oxidase deficiency (Disorders of pyridoxine metabolism)