Genomics England

FOXP3

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Panel	Mode of inheritance	Details
Filter panels6 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes IPEX SYNDROME 304790
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes IPEX SYNDROME
Green in Intestinal failure or congenital diarrhoea R-numbers: R331 Signed-off version 3.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, OMIM:304790
Green in IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked R-numbers: R157 Signed-off version 1.0	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes
Green in Neonatal diabetes R-numbers: R143 Signed-off version 5.0	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))
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 7.0	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