NSMCE2

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

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Amber NSMCE2 in Mendeliome


Version 1.2302

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • SECKEL SYNDROME 10

Amber NSMCE2 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.295

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • SECKEL SYNDROME 10