Severe microcephaly

Gene: CENPE

Red List (low evidence)

CENPE (centromere protein E)
EnsemblGeneIds (GRCh38): ENSG00000138778
EnsemblGeneIds (GRCh37): ENSG00000138778
OMIM: 117143, Gene2Phenotype
CENPE is in 1 panel

1 review

Rebecca Foulger (Genomics England curator)

CENPE is on the Expert list for MPD (microcephalic primordial dwarfism) from Andrew Jackson but with the caution that only a single mutation or family is reported in the literature.
13 Dec 2016, 12:10 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Other
Phenotypes
  • ?Microcephaly 13, primary, autosomal recessive, 616051
  • MPD
  • microcephalic primordial dwarfism
OMIM
117143
Clinvar variants
Variants in CENPE
Penetrance
Complete
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.

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

CENPE was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Expert list

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

CENPE was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other

13 Dec 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

CENPE was created by rfoulger