STAT5B

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

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green STAT5B in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.29

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory

Green STAT5B in Primary immunodeficiency


Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • GOSH PID v.8.0
  • SCID v1.6
Phenotypes
  • Growth hormone insensitivity with immunodeficiency 245590
  • T-B+ SCID
  • Combined immunodeficiency
  • Growth-hormone insensitive dwarfism, dysmorphic features, eczema, lymphocytic interstitial pneumonitis, autoimmunity
  • Combined immunodeficiencies with associated or syndromic features

Amber STAT5B in Fetal anomalies


Version 0.346

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY

No list STAT5B in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.0

review Not set
Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age

Amber STAT5B in DDG2P


Version 1.148

Component of the following Super Panels:

  • Paediatric disorders v4.376
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Amber
    Phenotypes
    • GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY 245590

    Red STAT5B in Growth failure in early childhood


    Version 1.3

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red

    Red STAT5B in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1098

    Component of the following Super Panels:

  • Paediatric disorders v4.376
  • White matter disorders - childhood onset v4.208
  • Hypotonic infant with a likely central cause v3.1028
  • review Not set
    Sources
    • Victorian Clinical Genetics Services