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Early onset or syndromic epilepsy v1.191 | PNKP | Rebecca Foulger Source Wessex and West Midlands GLH was added to PNKP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.190 | PNKP | Rebecca Foulger Source NHS GMS was added to PNKP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.189 | PNKP | Rebecca Foulger reviewed gene: PNKP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v1.188 | PNKP | Tracy Lester reviewed gene: PNKP: Rating: GREEN; Mode of pathogenicity: ; Publications: 20118933; Phenotypes: Ataxia-oculomotor apraxia,616267, Microcephaly, seizures, and developmental delay,613402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy | PNKP | Sarah Leigh Added gene to panel |