Gene Symbol:
PNPO
HGNC:30260
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
17q21.32
Filters:

ClinGen classifications

pyridoxal phosphate-responsive seizures
AR
12/15/2020
Evaluated
04/21/2024
Submitted

Invitae classifications

pyridoxal phosphate-responsive seizures
Submitted as: OMIM:610090
AR
10/21/2022
Evaluated
11/30/2023
Submitted

Orphanet classifications

pyridoxal phosphate-responsive seizures
Submitted as: Orphanet:79096
AR
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

pyridoxal phosphate-responsive seizures
Submitted as: OMIM:610090
AR
07/29/2021
Evaluated
09/11/2023
Submitted

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