STAT5B

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

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green STAT5B in Mendeliome


Version 2.0

1 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 2.0

2 reviews 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 2.0

1 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 1.0

1 review Unknown
Sources
  • Expert Review Red
  • NSW Health Pathology

Green STAT5B in Growth failure


Version 2.0

1 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 2.0

2 reviews 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