Infantile enterocolitis & monogenic inflammatory bowel disease

Gene: FOXP3

Green List (high evidence)

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

2 reviews

Neil shah (GOSH)

Green List (high evidence)

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM and G2P / DD. Present on UKGTN Very Early Onset Inflammatory Bowel Disease 40 Gene Panel and Emory Genetics Laboratory Early Onset Inflammatory Bowel Disease: Sequencing Panel. Numerous variants reported.
Created: 5 Sep 2016, 6:49 a.m.
Comment on phenotypes: Also associated with {Diabetes mellitus, type I, susceptibility to} 222100
Created: 5 Sep 2016, 6:49 a.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Eligibility statement prior genetic testing
  • Expert list
Phenotypes
  • Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) 304790
OMIM
300292
Clinvar variants
Variants in FOXP3
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Oct 2016, Gel status: 3

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

14th Oct 2016: panel revised according to expert review, additional curation for evidence level and internal clinical review, and promoted to version 1.

2 Sep 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for FOXP3 were set to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) 304790

2 Sep 2016, Gel status: 3

Upload gene information

Sarah Leigh (Genomics England Curator)

FOXP3 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN

2 Sep 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene FOXP3 were set to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked (IPEX) 304790

12 May 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene FOXP3 were set to IPEX

12 May 2016, Gel status: 0

Upload gene information

Ellen McDonagh (Genomics England Curator)

FOXP3 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Eligibility statement prior genetic testing

10 May 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FOXP3 was added to Infantile enterocolitis & monogenic inflammatory bowel diseasepanel. Sources: Expert list

10 May 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FOXP3 was created by ellenmcdonagh