PNPO - Gene browser | 3billion

PNPO

PNPO

pyridoxamine 5'-phosphate oxidase

HCNC Approved Symbol: PNPO (HGNC:30260)
Genomic Coordinates: 17:47,941,571 - 47,949,308 (17q21.32)
Synonyms: PDXPO
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the PNPO gene.

Frequently observed phenotypes(Top 5 only)

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

01
Patient count

Hyperaminoaciduria: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Hypotonia: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Seizures: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30

PNPO - Gene browser | 3billion