Severe microcephalyGene: CEP63
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.
Publications for CEP63 were set to 21983783; 26158450
This gene has been classified as Green List (High Evidence).
CEP63 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other Model of inheritance for gene CEP63 was set to BIALLELIC, autosomal or pseudoautosomal
CEP63 was created by rfoulger
CEP63 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list