Severe microcephalyGene: CDC6
As discussed with the GMS Neurology Specialist Test Group webex call 11thJuly 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Meier-Gorlin patient (male) with CDC6 variant (c.968C>G T323R) also described by de Munnik et al., 2012 (PMID:22333897).
Created: 27 Feb 2017, 12:02 p.m.
Mutations only reported in one patient
Created: 11 Jan 2017, 4:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
?Meier-Gorlin syndrome 5 613805
Source NHS GMS was added to CDC6.
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 CDC6 were set to 21358632; 22333897
Publications for CDC6 were set to 21358632
CDC6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other Model of inheritance for gene CDC6 was set to BIALLELIC, autosomal or pseudoautosomal
CDC6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list
CDC6 was created by rfoulger