Severe microcephaly
Gene: CENPEEnsemblGeneIds (GRCh38): ENSG00000138778
EnsemblGeneIds (GRCh37): ENSG00000138778
OMIM: 117143, Gene2Phenotype
CENPE is in 1 panel
2 reviews
Louise Daugherty (Genomics England Curator)
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 RedCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
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.Created: 13 Dec 2016, 12:10 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert list
- Other
- Phenotypes
-
- ?Microcephaly 13, primary, autosomal recessive, OMIM:616051
- Microcephalic primordial dwarfism
- OMIM
- 117143
- Clinvar variants
- Variants in CENPE
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CENPE were changed from ?Microcephaly 13, primary, autosomal recessive, 616051; MPD; microcephalic primordial dwarfism to ?Microcephaly 13, primary, autosomal recessive, OMIM:616051; Microcephalic primordial dwarfism
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CENPE.
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.
Added New Source
Rebecca Foulger (Genomics England curator)CENPE was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Expert list
Added New Source
Rebecca Foulger (Genomics England curator)CENPE was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other
Created
Rebecca Foulger (Genomics England curator)CENPE was created by rfoulger