Genomics England

signal transducer and activator of transcription 5B

Panel	Mode of inheritance	Details
Filter panels3 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY 245590
Green in Monogenic short stature R-numbers: R453 Signed-off version 1.0	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
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 6.12	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