Monogenic diabetes

Gene: NSMCE2

No list

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

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.
Created: 25 Jan 2019, 11:49 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Dwarfism with extreme insulin resistance and acanthosis nigricans
OMIM
617246
Clinvar variants
Variants in NSMCE2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 0

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Gene changed to grey status af

25 Jan 2019, Gel status: 0

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Removed was added to NSMCE2. Rating Changed from Red List (low evidence) to No List (delete)

18 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: NSMCE2 was added gene: NSMCE2 was added to Monogenic diabetes. Sources: Expert Review Red Mode of inheritance for gene: NSMCE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSMCE2 were set to 25105364 Phenotypes for gene: NSMCE2 were set to Dwarfism with extreme insulin resistance and acanthosis nigricans