FOXP3

forkhead box P3
OMIM: 300292, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Green FOXP3 in Infantile enterocolitis & monogenic inflammatory bowel disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.43	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources UKGTN Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Eligibility statement prior genetic testing Expert list Phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) 304790
Green FOXP3 in Multi-organ autoimmune diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.11	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 {Diabetes mellitus, type I, susceptibility to}, 222100 Neonatal Diabetes
Red FOXP3 in Familial Meniere Disease Level 3: Other hearing and ear disorders Level 2: Hearing and ear disorders Version 1.3	review	Not set	Sources Literature
Green FOXP3 in Gastrointestinal epithelial barrier disorders Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.75	review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Emory Genetics Laboratory Phenotypes Early Onset Inflammatory Bowel Disease Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) 304790
Green FOXP3 in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.64	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Other Literature Phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 IPEX X-linked syndrome of immunodysregulation, polyendocrinopathy, and enteropath fetal hydrops Absent skeletal Muscle
Green FOXP3 in COVID-19 research Level 2: Viral research Version 1.142	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources IUIS Classification February 2018 London North GLH GOSH PID v.8.0 NHS GMS GRID V2.0 Victorian Clinical Genetics Services North West GLH ESID Registry 20171117 Expert Review Green NHS GMS North West GLH London North GLH Expert Review Green IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 Phenotypes FOXP3 deficiency (IPEX) Immune dysregulation polyendocrinopathy enteropathy X-linked syndrome Diseases of Immune Dysregulation Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 IPEX Autoimmune enteropathy, early onset diabetes, hyroiditis hemolytic anemia, thrombocytopenia, eczema, elevated IgE, IgA
Green FOXP3 in Diabetes with additional phenotypes suggestive of a monogenic aetiology Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.67	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 {Diabetes mellitus, type I, susceptibility to}, 222100 IPEX syndrome
Green FOXP3 in Neonatal diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 4.4 Latest signed off version: v4.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing UKGTN Phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, OMIM:304790 (includes Insulin-dependent diabetes mellitus (type I))
Green FOXP3 in Intestinal failure or congenital diarrhoea Version 3.3 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, OMIM:304790
Green FOXP3 in Familial diabetes Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 1.67	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green UKGTN
Green FOXP3 in Primary immunodeficiency or monogenic inflammatory bowel disease Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Other NHS GMS North West GLH London North GLH IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 GOSH PID v.8.0 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
No list FOXP3 in Monogenic diabetes Version 2.58 Latest signed off version: v2.2 (25 Feb 2020)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Removed Phenotypes {Diabetes mellitus, type I, susceptibility to}, 222100 Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790 IPEX syndrome Tags curated_removed
Green FOXP3 in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes IPEX SYNDROME
Green FOXP3 in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes IPEX SYNDROME 304790
Red FOXP3 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Expert Review Red Phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked 304790
Green FOXP3 in Severe Paediatric Disorders Version 1.184	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790
Green FOXP3 in IPEX - Immunodysregulation Polyendocrinopathy and Enteropathy, X-Linked Version 1.1 Latest signed off version: v1.0 (14 Sep 2023)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources NHS GMS Expert Review Green