12 Jun 2023
Early onset or syndromic epilepsy v4.50
PNPO
Achchuthan Shanmugasundram Publications for gene: PNPO were set to 24658933; 28818555; 22196487; 21704546; 25296925; 26535729; 15772097; 24266778; 36106796
12 Jun 2023
Early onset or syndromic epilepsy v4.49
PNPO
Achchuthan Shanmugasundram Publications for gene: PNPO were set to 24658933; 28818555; 22196487; 21704546; 25296925; 26535729; 15772097; 24266778; 36106796
12 Jun 2023
Early onset or syndromic epilepsy v4.49
PNPO
Achchuthan Shanmugasundram Publications for gene: PNPO were set to 24658933; 28818555; 22196487; 21704546; 25296925; 26535729; 15772097; 24266778
28 Nov 2019
Early onset or syndromic epilepsy v1.488
PNPO
Rebecca Foulger Phenotypes for gene: PNPO were changed from to Pyridoxamine 5'-phosphate oxidase deficiency, 610090
06 Aug 2019
Early onset or syndromic epilepsy v1.191
PNPO
Rebecca Foulger Source Wessex and West Midlands GLH was added to PNPO.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
PNPO
Rebecca Foulger Source NHS GMS was added to PNPO.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
PNPO
Rebecca Foulger reviewed gene: PNPO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
PNPO
Tracy Lester reviewed gene: PNPO: Rating: GREEN; Mode of pathogenicity: ; Publications: 26535729, 15772097 ; Phenotypes: Pyridoxamine 5'-phosphate oxidase deficiency, 610090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Jun 2018
Early onset or syndromic epilepsy
PNPO
Sarah Leigh classified PNPO as Green List (high evidence)
04 Apr 2018
Early onset or syndromic epilepsy
PNPO
Sarah Leigh Added gene to panel