Genomics England
GMS Panels
Panels
Genes and Entities

STAT5B

signal transducer and activator of transcription 5B
OMIM: 604260
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY 245590
Green
in Monogenic short stature
R-numbers: R453
Signed-off version 1.1
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590, Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 5.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Growth hormone insensitivity with immune dysregulation 1, autosomal recessive, OMIM:245590, Growth hormone insensitivity with immune dysregulation 2, autosomal dominant, OMIM:618985, T-B+ SCID, Combined immunodeficiency, Growth-hormone insensitive dwarfism, dysmorphic features, eczema, lymphocytic interstitial pneumonitis, autoimmunity, Combined immunodeficiencies with associated or syndromic features