STAT5B

signal transducer and activator of transcription 5B
OMIM: 604260
PanelMode of inheritanceDetails
2 panels
R-numbers: R147
Signed-off version 3.0
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
R-numbers: R15
Signed-off version 4.0
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