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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
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
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
Early onset or syndromic epilepsy v1.488 PNPO Rebecca Foulger Phenotypes for gene: PNPO were changed from to Pyridoxamine 5'-phosphate oxidase deficiency, 610090
Early onset or syndromic epilepsy v1.191 PNPO Rebecca Foulger Source Wessex and West Midlands GLH was added to PNPO.
Early onset or syndromic epilepsy v1.190 PNPO Rebecca Foulger Source NHS GMS was added to PNPO.
Early onset or syndromic epilepsy v1.189 PNPO Rebecca Foulger reviewed gene: PNPO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
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
Early onset or syndromic epilepsy PNPO Sarah Leigh classified PNPO as Green List (high evidence)
Early onset or syndromic epilepsy PNPO Sarah Leigh Added gene to panel