Neurotransmitter disorders
Gene: PNPO
PNPO (pyridoxamine 5'-phosphate oxidase)
EnsemblGeneIds (GRCh38): ENSG00000108439
EnsemblGeneIds (GRCh37): ENSG00000108439
OMIM: 603287, Gene2Phenotype
PNPO is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000108439
EnsemblGeneIds (GRCh37): ENSG00000108439
OMIM: 603287, Gene2Phenotype
PNPO is in 7 panels
1 review
Zornitza Stark (Australian Genomics)
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 listCreated: 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