Severe microcephaly
Gene: CEP63
Only one family reported to date; functional evidence.Created: 4 Sep 2020, 10:12 a.m. | Last Modified: 4 Sep 2020, 10:12 a.m.
Panel Version: 2.20
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Seckel syndrome 6, MIM#614728
Publications
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Mutations identified in three cousins from one family but gene known to be involved in centrosome function and good mouse model existsCreated: 11 Jan 2017, 3:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Seckel syndrome 6 614728
Publications
Source NHS GMS was added to CEP63.
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 CEP63 were set to 21983783; 26158450
This gene has been classified as Green List (High Evidence).
CEP63 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Other Model of inheritance for gene CEP63 was set to BIALLELIC, autosomal or pseudoautosomal
CEP63 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Expert list
CEP63 was created by rfoulger