Neurotransmitter disorders

Gene: PNPO

No list

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

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Pyridoxal 5′-phosphate is a co-factor in the synthesis of dopamine and serotonin. Multiple CSF abnormalities reported including decreased HVA and 5HIAA. Treatable disorder, typically manifesting as neonatal seizures.
Sources: Expert list
Created: 23 Aug 2020, 9:07 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090
OMIM
603287
Clinvar variants
Variants in PNPO
Penetrance
None
Panels with this gene

History Filter Activity

23 Aug 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: PNPO was added gene: PNPO was added to Neurotransmitter disorders. Sources: Expert list 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, MIM# 610090 Review for gene: PNPO was set to GREEN