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

Component of the following Super Panels:

  • Merge for Monogenic diabetes v1.35
  • 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 2.1

    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 1.74

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