Insulin resistance (including lipodystrophy)

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

3 reviews

David Savage (IMS MRL, Uni. Cambridge)

Green List (high evidence)

Robert Semple (University of Cambridge)

Red List (low evidence)

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: The link to NSMCE2 on OMIM is not working (11/08/2016). Two frame-shifting variants reported as compound heterozygotes in two unrelated patients
Created: 11 Aug 2016, 1:57 p.m.
Comment on phenotypes: Not listed on OMIM
Created: 11 Aug 2016, 1:55 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Dwarfism with extreme insulin resistance and acanthosis nigricans
OMIM
617246
Clinvar variants
Variants in NSMCE2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 12/08/2016

11 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 Aug 2016, Gel status: 1

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

11 Aug 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for NSMCE2 were set to Dwarfism with extreme insulin resistance and acanthosis nigricans

11 Aug 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NSMCE2 were set to 25105364

11 Aug 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NSMCE2 were set to 25105364

12 Oct 2015, Gel status: 0

Added New Source

Robert Semple (University of Cambridge)

NSMCE2 was added to Insulin resistance (including lipodystrophy) panel. Sources: Literature