Genomics England

STAT3

signal transducer and activator of transcription 3

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Haematological malignancies cancer susceptibility Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Class: familial predisp to leukaemia (typ AD), paediatric large granular lymphocytic leukaemia, Leukaemia
Green in Neonatal diabetes R-numbers: R143 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 6.12	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Autoimmune disease, multisystem, infantile-onset, 1 615952, Hyper-IgE recurrent infection syndrome 147060, Autoimmune disease, multisystem, infantile-onset, Early-onset multi-organ autoimmune disease, Hyper IgE syndrome (HIES), Combined immunodeficiencies with associated or syndromic features, Diseases of Immune Dysregulation
Green in Rare genetic inflammatory skin disorders R-numbers: R332 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Hyper-IgE recurrent infection syndrome, OMIM:147060, Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952
Green in Rare syndromic craniosynostosis or isolated multisuture synostosis R-numbers: R100 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Hyper IgE recurrent infection syndrome 147060, 147060