06 Aug 2019
Early onset or syndromic epilepsy v1.191
PLPBP
Rebecca Foulger Source Wessex and West Midlands GLH was added to PLPBP.
06 Aug 2019
Early onset or syndromic epilepsy v1.190
PLPBP
Rebecca Foulger Source NHS GMS was added to PLPBP.
06 Aug 2019
Early onset or syndromic epilepsy v1.189
PLPBP
Rebecca Foulger reviewed gene: PLPBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
06 Aug 2019
Early onset or syndromic epilepsy v1.188
PLPBP
Tracy Lester reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 27912044, 28391250 ; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, 617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Dec 2018
Early onset or syndromic epilepsy v1.3
PROSC
Ellen McDonagh Added comment: Comment on list classification: Demoting from Green to Grey, as this gene is represented by PLPBP in this panel: https://panelapp.genomicsengland.co.uk/panels/402/gene/PLPBP/.
18 Dec 2018
Early onset or syndromic epilepsy v1.2
PLPBP
Ellen McDonagh commented on gene: PLPBP
04 Apr 2018
Early onset or syndromic epilepsy
PLPBP
Sarah Leigh Added gene to panel