Severe microcephaly
Gene: NSMCE2EnsemblGeneIds (GRCh38): ENSG00000156831
EnsemblGeneIds (GRCh37): ENSG00000156831
OMIM: 617246, Gene2Phenotype
NSMCE2 is in 3 panels
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)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Other
- Phenotypes
-
- Seckel syndrome 10, 617253
- SCKL10
- OMIM
- 617246
- Clinvar variants
- Variants in NSMCE2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to NSMCE2.
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)NSMCE2 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other
Created
Rebecca Foulger (Genomics England curator)NSMCE2 was created by rfoulger