PanelApp
  1. Genes and Genomic Entities
  2. NSMCE3

NSMCE3

NSE3 homolog, SMC5-SMC6 complex component
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 1.27

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 1.4851

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 1.11

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 1.147

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