NSMCE2

NSE2/MMS21 homolog, SMC5-SMC6 complex SUMO ligase
OMIM: 617246, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Red NSMCE2 in Insulin resistance (including lipodystrophy)

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.18

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Dwarfism with extreme insulin resistance and acanthosis nigricans
No list NSMCE2 in Monogenic diabetes


Level 2: Endocrinology
Version 3.14
Latest signed off version: v3.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Dwarfism with extreme insulin resistance and acanthosis nigricans
Tags
  • curated_removed
Red NSMCE2 in Severe microcephaly


Level 2: Neurology
Version 8.36
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Other
Phenotypes
  • Seckel syndrome 10, 617253
  • SCKL10