Diabetes with additional phenotypes suggestive of a monogenic aetiology

Gene: FOXP3

Green List (high evidence)

FOXP3 (forkhead box P3)
EnsemblGeneIds (GRCh38): ENSG00000049768
EnsemblGeneIds (GRCh37): ENSG00000049768
OMIM: 300292, Gene2Phenotype
FOXP3 is in 15 panels

3 reviews

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review.
Created: 7 Jun 2016, 10:04 a.m.

Chris Boustred (Genomics England)

Comment when marking as ready: Upgrade to Green gene based on expert review and literature evidence for involvement in IPEX syndrome
Created: 7 Jun 2016, 9:39 a.m.

Details

Mode of Inheritance
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
OMIM
300292
Clinvar variants
Variants in FOXP3
Penetrance
Complete
Panels with this gene

History Filter Activity

25 Jul 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Green List (High Evidence).

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Green List (High Evidence).

17 Aug 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FOXP3 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Aug 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FOXP3 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FOXP3 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FOXP3 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene FOXP3 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

17 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FOXP3 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: UKGTN

17 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FOXP3 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen