STAT6:Ensemblv115

signal transducer and activator of transcription 6
OMIM: 601512, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green STAT6 in Combined Immunodeficiency


Level 2: Immunological disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • hyper-IgE syndrome MONDO:0018037

Green STAT6 in Disorders of immune dysregulation


Level 2: Immunological disorders
Version 2.0

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Hyper-IgE syndrome 6, autosomal dominant, with atopy and allergies, MIM# 620532