Severe microcephaly

Gene: NSMCE2

Red List (low evidence)

NSMCE2 (NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase)
EnsemblGeneIds (GRCh38): ENSG00000156831
EnsemblGeneIds (GRCh37): ENSG00000156831
OMIM: 617246, Gene2Phenotype
NSMCE2 is in 3 panels

1 review

Rebecca Foulger (Genomics England curator)

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.
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.
20 Feb 2017, 2:53 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Seckel syndrome 10, 617253
  • SCKL10
OMIM
617246
Clinvar variants
Variants in NSMCE2
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.

3 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

NSMCE2 was created by rfoulger

3 Jan 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

NSMCE2 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other