FOXP3

PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
IPEX SYNDROME 304790
R-numbers: R143
Signed-off version 3.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, OMIM:304790 (includes Insulin-dependent diabetes mellitus (type I))
R-numbers: R21, R412
Signed-off version 2.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
IPEX SYNDROME
R-numbers: R331
Signed-off version 2.1
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, OMIM:304790
R-numbers: R15
Signed-off version 3.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790, IPEX, FOXP3 deficiency (IPEX), Immune dysregulation polyendocrinopathy enteropathy X-linked syndrome, Autoimmune enteropathy, early onset diabetes, hyroiditis hemolytic anemia, thrombocytopenia, eczema, elevated IgE, IgA, Diseases of Immune Dysregulation