Genes in panel

STRs in panel

Prev Next

Regions in panel

Prev Next

This Panel is marked as Internal

Newborns main panel
Gene: FOXP3

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.

Panel Version: 0.137

PMID: 31874182 - 6 cases. PMID: 29241729 - 58 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.

Panel Version: 0.134

MOI reviewed by clinical team. Mafalda Gomes comment: Affected females have not been reported; female carriers of a pathogenic variant do not have clinical findings.
Created: 10 Mar 2023, 10:37 a.m. | Last Modified: 10 Mar 2023, 10:37 a.m.

Panel Version: 0.40

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

Phenotypes
Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked

Created: 10 Mar 2023, 10:37 a.m.
Last Modified: 10 Mar 2023, 10:37 a.m.
Panel version: 0.137

Details

Mode of Inheritance

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

Sources

Expert Review Green

Phenotypes

X-linked immunodysregulation, polyendocrinopathy, and enteropathy

OMIM

Clinvar variants

Variants in FOXP3

Penetrance

None

Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes X-linked immunodysregulation, polyendocrinopathy, and enteropathy for gene: FOXP3

14 Jul 2023, Gel status: 3

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene: FOXP3 was changed from BIALLELIC, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, biallelic mutations in females

5 Jul 2023, Gel status: 3

Set mode of inheritance, Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Mode of inheritance for gene FOXP3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BIALLELIC, autosomal or pseudoautosomal Added phenotypes X-linked immunodysregulation, polyendocrinopathy, and enteropathy for gene: FOXP3

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes X-linked immunodysregulation, polyendocrinopathy, and enteropathy for gene: FOXP3

15 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: FOXP3 were changed from X-linked immunodysregulation, polyendocrinopathy, and enteropathy; Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked to X-linked immunodysregulation, polyendocrinopathy, and enteropathy

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to FOXP3. Added phenotypes X-linked immunodysregulation, polyendocrinopathy, and enteropathy for gene: FOXP3 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked for gene: FOXP3

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: FOXP3 was added gene: FOXP3 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females