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Prepair 1000+

Gene: PNPO

Green List (high evidence)
PNPO (pyridoxamine 5'-phosphate oxidase)
EnsemblGeneIds (GRCh38): ENSG00000108439
EnsemblGeneIds (GRCh37): ENSG00000108439
OMIM: 603287, Gene2Phenotype
PNPO is in 9 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

PNPO deficiency is an autosomal recessive inborn error of metabolism resulting in vitamin B6 deficiency that manifests as neonatal-onset severe seizures and subsequent encephalopathy. Developmental delay, intellectual disability, hypotonia, erratic eye movements, etc are also observed in patients with variants in PNPO.
Functional studies present and animal models.

More than 100 individuals reported.
Created: 25 Sep 2024, 10:17 a.m. | Last Modified: 25 Sep 2024, 10:17 a.m.
Panel Version: 1.322

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pyridoxamine 5'-phosphate oxidase deficiency MIM#610090

Publications

Created: 25 Sep 2024, 10:17 a.m.
Last Modified: 25 Sep 2024, 10:17 a.m.
Panel version: 1.322

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)
OMIM
603287
Clinvar variants
Variants in PNPO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: pnpo has been classified as Green List (High Evidence).

27 Sep 2024, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: PNPO were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3) for gene: PNPO

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PNPO was added gene: PNPO was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPO were set to Pyridoxamine 5'-phosphate oxidase deficiency, 610090 (3)