This Panel is marked as Internal
ClinGen_Familial thoracic aortic aneurysm and aortic dissection
Gene: FOXE3
FOXE3 (forkhead box E3)
EnsemblGeneIds (GRCh38): ENSG00000186790
EnsemblGeneIds (GRCh37): ENSG00000186790
OMIM: 601094, Gene2Phenotype
FOXE3 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000186790
EnsemblGeneIds (GRCh37): ENSG00000186790
OMIM: 601094, Gene2Phenotype
FOXE3 is in 12 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.Created: 23 Jun 2017, 1:06 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- ClinGen
- Expert Review Amber
- Phenotypes
-
- Familial thoracic aortic aneurysm and aortic dissection
- OMIM
- 601094
- Clinvar variants
- Variants in FOXE3
- Penetrance
- Complete
- Panels with this gene
-
- Anophthalmia or microphthalmia
- Pneumothorax - familial
- Retinal disorders
- Thoracic aortic aneurysm or dissection (GMS)
- Intellectual disability
- Bilateral congenital or childhood onset cataracts
- Thoracic aortic aneurysm or dissection
- Ocular coloboma
- Fetal anomalies
- DDG2P
- Structural eye disease
- Glaucoma (developmental)
History Filter Activity
22 Jun 2017, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)FOXE3 was added to ClinGen_Familial thoracic aortic aneurysm and aortic dissectionpanel. Sources: ClinGen,Expert Review Amber
22 Jun 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)FOXE3 was created by ellenmcdonagh