Severe microcephalyGene: NSMCE2
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
Animal model: Payne et al. (2014, PMID: 25105364) knockeddown the NSMCE2 ortholog in zebrafish and produced dwarfism, which was attenuated by re-expression of human wildtype NMSCE2.
Created: 2 Mar 2017, 3:55 p.m.
Only 2 cases: In 2 unrelated women with severe microcephalic dwarfism, marked insulin resistance, and primary gonadal failure (Seckel syndrome-10; MIM:617253), Payne et al. (2014, PMID: 25105364) identified compound heterozygosity for the same 2 frameshift mutations in the NSMCE2 gene.
Created: 20 Feb 2017, 2:53 p.m.
Source NHS GMS was added to NSMCE2.
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.
NSMCE2 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other
NSMCE2 was created by rfoulger