Muscular dystrophy and myopathy_Paediatric

Gene: FOXP3

Red List (low evidence)

FOXP3 (forkhead box P3)
EnsemblGeneIds (GRCh38): ENSG00000049768
EnsemblGeneIds (GRCh37): ENSG00000049768
OMIM: 300292, Gene2Phenotype
FOXP3 is in 14 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single case reported with centronuclear myopathy.
Sources: Literature
Created: 1 Aug 2024, 1:47 a.m.

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

Phenotypes
congenital myopathy MONDO:0019952

Publications

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

History Filter Activity

1 Aug 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: foxp3 has been classified as Red List (Low Evidence).

1 Aug 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: FOXP3 was added gene: FOXP3 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FOXP3 were set to 38982518 Phenotypes for gene: FOXP3 were set to congenital myopathy MONDO:0019952 Review for gene: FOXP3 was set to RED gene: FOXP3 was marked as current diagnostic