Muscular dystrophy and myopathy_Paediatric
Gene: FOXP3EnsemblGeneIds (GRCh38): ENSG00000049768
EnsemblGeneIds (GRCh37): ENSG00000049768
OMIM: 300292, Gene2Phenotype
FOXP3 is in 14 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Single case reported with centronuclear myopathy.
Sources: LiteratureCreated: 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
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- congenital myopathy MONDO:0019952
- OMIM
- 300292
- Clinvar variants
- Variants in FOXP3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Congenital Diarrhoea
- Muscular dystrophy and myopathy_Paediatric
- Disorders of immune dysregulation
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Monogenic Diabetes
- Mendeliome
- Inflammatory bowel disease
- BabyScreen+ newborn screening
- Vasculitis
- Hydrops fetalis
- Cataract
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: foxp3 has been classified as Red List (Low Evidence).
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