NFE2

nuclear factor, erythroid 2
OMIM: 601490, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red NFE2 in Bleeding and Platelet Disorders


Level 2: Haematological disorders
Version 1.56

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • thrombocytopenia MONDO:0002049, NFE2-related

Red NFE2 in Mendeliome


Version 1.2717

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • thrombocytopenia MONDO:0002049, NFE2-related