1. Panels
  2. Newborns main panel
  3. PNPO
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

Newborns main panel

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PNPO curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pyridoxamine 5’-phosphate oxidase deficiency
OMIM
603287
Clinvar variants
Variants in PNPO
Penetrance
None
Panels with this gene

History Filter Activity

7 Feb 2024, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: PNPO were changed from Pyridoxamine 5-prime-phosphate oxidase deficiency to Pyridoxamine 5’-phosphate oxidase deficiency

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Pyridoxamine 5-prime-phosphate oxidase deficiency for gene: PNPO

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to PNPO. Added phenotypes Pyridoxamine 5-prime-phosphate oxidase deficiency for gene: PNPO Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to PNPO. Added phenotypes Pyridoxamine 5-prime-phosphate oxidase deficiency for gene: PNPO Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Pyridoxamine 5-prime-phosphate oxidase deficiency for gene: PNPO

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: PNPO was added gene: PNPO was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal