STAT3

signal transducer and activator of transcription 3
OMIM: 102582
PanelMode of inheritanceDetails
5 panels
R-numbers: R100
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyper IgE recurrent infection syndrome 147060, 147060
R-numbers: R143
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Class: familial predisp to leukaemia (typ AD), paediatric large granular lymphocytic leukaemia, Leukaemia
R-numbers: R15
Signed-off version 3.1
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
R-numbers: R332
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyper-IgE recurrent infection syndrome, OMIM:147060, Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952