NFE2

nuclear factor, erythroid 2
OMIM: 601490, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber NFE2 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 2.1

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • ClinGen
Phenotypes
  • thrombocytopenia MONDO:0002049, NFE2-related

Amber NFE2 in Bone Marrow Failure


Level 2: Haematological disorders
Version 2.8

Component of the following Super Panels:

  • Immunological disorders_SuperPanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • ClinGen
    • Expert Review Amber
    • Expert Review Amber
    Phenotypes
    • thrombocytopenia MONDO:0002049, NFE2-related

    Amber NFE2 in Mendeliome


    Version 2.278

    2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • ClinGen
    Phenotypes
    • thrombocytopenia MONDO:0002049, NFE2-related