NSMCE3

NSE3 component of SMC5/6 complex
OMIM: 608243, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green NSMCE3 in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241

Green NSMCE3 in Mendeliome


Version 2.23

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241

Green NSMCE3 in Pulmonary Fibrosis_Interstitial Lung Disease


Level 2: Respiratory disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241

Green NSMCE3 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 2.0

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Lung disease, immunodeficiency, and chromosome breakage syndrome, MIM#617241