Neurotransmitter Defects
Gene: PNPO
PNPO (pyridoxamine 5'-phosphate oxidase)
EnsemblGeneIds (GRCh38): ENSG00000108439
EnsemblGeneIds (GRCh37): ENSG00000108439
OMIM: 603287, Gene2Phenotype
PNPO is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000108439
EnsemblGeneIds (GRCh37): ENSG00000108439
OMIM: 603287, Gene2Phenotype
PNPO is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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. Pyridoxal 5′-phosphate is a co-factor in the synthesis of dopamine and serotonin. Multiple CSF abnormalities.Created: 23 Aug 2020, 9:05 a.m. | Last Modified: 23 Aug 2020, 9:05 a.m.
Panel Version: 0.60
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- 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: 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 Aug 2020, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PNPO were changed from to Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090
23 Aug 2020, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PNPO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PNPO was added gene: PNPO was added to Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PNPO was set to Unknown