Severe microcephalyGene: CDK6
PMID:23918663 studied a consanguineous eight-generation family from Pakistan with ten microcephalic children and report a homozygous single nucleotide substitution c.589G>A in CDK6, resulting in p.Ala197Thr. Post hoc whole-exome sequencing corroborated this mutation's identification as the causal variant.
13 Dec 2016, 10:43 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.
CDK6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other Model of inheritance for gene CDK6 was set to BIALLELIC, autosomal or pseudoautosomal
CDK6 was created by rfoulger
CDK6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Literature