1. Panels
  2. Monogenic Diabetes
  3. FOXP3
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Monogenic Diabetes

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

Hali Van Niel (University of Melbourne)

Green List (high evidence)

well established gene disease associated for Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked recessive disorder
Type 1 diabetes mellitus a hallmark of disorder
PMID: 32234571: review of 195 patients w FOXP3 variants, 91 (46.7%) presented with diabetes mellitus
Created: 2 May 2024, 1:44 a.m. | Last Modified: 2 May 2024, 1:44 a.m.
Panel Version: 0.58

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

Phenotypes
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0010580

Publications

Created: 2 May 2024, 1:44 a.m.
Last Modified: 2 May 2024, 1:44 a.m.
Panel version: 0.58

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0010580
OMIM
300292
Clinvar variants
Variants in FOXP3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 May 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: foxp3 has been classified as Green List (High Evidence).

2 May 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: FOXP3 were changed from to immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome MONDO:0010580

2 May 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: FOXP3 were set to

17 Jan 2020, 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 Monogenic diabetes. Sources: UKGTN,Expert Review Green Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females