BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: FOXP3

FOXP3 (forkhead box P3)
EnsemblGeneIds (GRCh38): ENSG00000049768
EnsemblGeneIds (GRCh37): ENSG00000049768
OMIM: 300292, Gene2Phenotype
FOXP3 is in 16 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; UKGTN_v12; GEL_ID_red_20160217; neuro_20160418_strict; Loss of function
Created: 7 Feb 2017, 4:22 p.m.

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

Phenotypes
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790; {Diabetes mellitus, type I, susceptibility to}, 222100;

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 4:22 p.m.

Panel version: 0.2

Details

Mode of Inheritance

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

Sources

BRIDGE

Phenotypes

Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790
{Diabetes mellitus, type I, susceptibility to}, 222100

OMIM

300292

Clinvar variants

Variants in FOXP3

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FOXP3 was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source