Disorders of immune dysregulation
Gene: FOXP3

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

Created: 4 Jan 2022, 8:17 a.m.
Last Modified: 4 Jan 2022, 8:17 a.m.
Panel version: Imported from Mendeliome panel version 0.10472

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

Disorders of immune dysregulation Gene: FOXP3