Disorders of immune dysregulation

Gene: FOXP3

Green List (high evidence)

FOXP3 (forkhead box P3)
EnsemblGeneIds (GRCh38): ENSG00000049768
EnsemblGeneIds (GRCh37): ENSG00000049768
OMIM: 300292, Gene2Phenotype
FOXP3 is in 14 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

IPEX is an X-linked recessive immunologic disorder characterized by onset in infancy of severe diarrhoea due to enteropathy, type 1 diabetes mellitus, and dermatitis. Other features may include hypothyroidism, autoimmune haemolytic anemia, thrombocytopaenia, lymphadenopathy, hepatitis, and nephritis. Multiple presentations with fetal hydrops also reported.

More than 200 individuals reported, reviewed in PMID 32234571.
Created: 4 Jan 2022, 8:17 a.m. | Last Modified: 4 Jan 2022, 8:17 a.m.
Panel Version: 0.10472

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Immunology Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
treatable
OMIM
300292
Clinvar variants
Variants in FOXP3
Penetrance
None
Panels with this gene

History Filter Activity

21 Nov 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: FOXP3.

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: FOXP3 was added gene: FOXP3 was added to Disorders of immune dysregulation_MGHA_AGHA_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: FOXP3 was set to Unknown