1. Panels
  2. TEST Undiagnosed metabolic disorders
  3. PNPO
Genes in panel
Prev Next

TEST Undiagnosed metabolic disorders

Gene: PNPO

Green List (high evidence)
PNPO (pyridoxamine 5'-phosphate oxidase)
EnsemblGeneIds (GRCh38): ENSG00000108439
EnsemblGeneIds (GRCh37): ENSG00000108439
OMIM: 603287, Gene2Phenotype
PNPO is in 7 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Literature
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
OMIM
603287
Clinvar variants
Variants in PNPO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Aug 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications

Sarah Leigh (Genomics England Curator)

gene: PNPO was added gene: PNPO was added to TEST Undiagnosed metabolic disorders. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Expert Review Green,Literature,Emory Genetics Laboratory Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNPO were set to 27604308