PanelApp (test)
  1. Genes and Genomic Entities
  2. STAT5B:Ensemblv115

STAT5B:Ensemblv115

signal transducer and activator of transcription 5B
OMIM: 604260, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green STAT5B in Combined Immunodeficiency


Level 2: Immunological disorders
Version 2.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Expert Review Green
Phenotypes
  • Growth hormone insensitivity with immunodeficiency, MIM# 245590
Tags
  • somatic

Green STAT5B in Growth failure


Version 2.0

1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Genomics England PanelApp
  • Expert Review Green
Phenotypes
  • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, MIM# 245590
  • Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, MIM# 618985