Severe microcephalyGene: PNKP
Comment on list classification: Updated rating from Amber to Green after clinical discussions. PNKP is a confirmed DDG2P gene for Microcephaly, seizures, and developmental delay (OMIM:6134020). >3 cases of PNKP mutations linked to OMIM:6134020 (from Shen et al., 2010, PMID:20118933).
Created: 19 Jan 2017, 11:09 a.m.
2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.
This gene has been classified as Green List (High Evidence).
PNKP was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN Model of inheritance for gene PNKP was set to BIALLELIC, autosomal or pseudoautosomal
PNKP was created by rfoulger
PNKP was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Radboud University Medical Center, Nijmegen