STAT5B

signal transducer and activator of transcription 5B
OMIM: 604260, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green STAT5B in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Growth hormone insensitivity with immunodeficiency, MIM# 245590
Tags
  • somatic

Green STAT5B in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.66

Component of the following Super Panels:

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

    Red STAT5B in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Growth hormone insensitivity with immunodeficiency
    • OMIM #245590

    Red STAT5B in Incidentalome_PREGEN_DRAFT


    Version 0.43

    review Unknown
    Sources
    • Expert Review Red
    • NSW Health Pathology

    Green STAT5B in Growth failure


    Version 1.76

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

    Amber STAT5B in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genomics England PanelApp
    • Expert list
    Phenotypes
    • Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, MIM# 245590