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 1.11

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


Version 2.3
Signed off v.2.2 on 25 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Dwarfism with extreme insulin resistance and acanthosis nigricans

Red NSMCE2 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.17
Signed off v.2.2 on 2 Mar 2020

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