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BabyScreen+ newborn screening

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

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

neonatal/infantile onset epileptic encephalopathy

responsive to pyridoxal phosphate (not pyridoxine)
Created: 23 Dec 2022, 1:49 a.m. | Last Modified: 23 Dec 2022, 1:49 a.m.
Panel Version: 0.1593

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neonatal seizures; ID

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
  • BeginNGS
Phenotypes
  • Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090
Tags
treatable metabolic
OMIM
603287
Clinvar variants
Variants in PNPO
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

23 Dec 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PNPO were set to

23 Dec 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PNPO were changed from Epileptic encephalopathy, neonatal, MIM#610090 to Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090

23 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: PNPO. Tag metabolic tag was added to gene: PNPO.

18 Sep 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 gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PNPO were set to Epileptic encephalopathy, neonatal, MIM#610090