STAT3

signal transducer and activator of transcription 3
OMIM: 102582
PanelMode of inheritanceDetails
5 panels
R-numbers: R100
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyper IgE recurrent infection syndrome 147060, 147060
R-numbers: R143
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neonatal diabetes and additional multi-organ autoimmunity, permanent neonatal diabetes, Neonatal diabetes and early-onset multi-organ autoimmune disease
Signed-off version 2.2
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 2.1
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 1.6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
HyperIgE syndrome, ADMIO1, HIES1, AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1, HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT