Severe microcephaly

Gene: CDC6

Red List (low evidence)

CDC6 (cell division cycle 6)
EnsemblGeneIds (GRCh38): ENSG00000094804
EnsemblGeneIds (GRCh37): ENSG00000094804
OMIM: 602627, Gene2Phenotype
CDC6 is in 8 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Meier-Gorlin patient (male) with CDC6 variant (c.968C>G T323R) also described by de Munnik et al., 2012 (PMID:22333897).
27 Feb 2017, 12:02 p.m.

Alice Gardham (Genomics England)

Red List (low evidence)

Mutations only reported in one patient
11 Jan 2017, 4:23 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Meier-Gorlin syndrome 5 613805

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
  • Expert list
Phenotypes
  • MPD
  • microcephalic primordial dwarfism
  • ?Meier-Gorlin syndrome 5, 613805
OMIM
602627
Clinvar variants
Variants in CDC6
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Mar 2017, Gel status: 0

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

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.

27 Feb 2017, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for CDC6 were set to 21358632; 22333897

11 Jan 2017, Gel status: 0

Set publications

Alice Gardham (Genomics England)

Publications for CDC6 were set to 21358632

13 Dec 2016, Gel status: 0

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

CDC6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other Model of inheritance for gene CDC6 was set to BIALLELIC, autosomal or pseudoautosomal

13 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

CDC6 was created by rfoulger

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

CDC6 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list