Pneumothorax - familial
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
Louise Daugherty (Genomics England Curator)
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: FOXE3; Suggested initial gene rating: Red; Evidence for inclusion: none given; Evidence for exclusion: Cataract/opthalmo gene. No evidence of phenumothorax as a feature.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 6 Dec 2018, 2:37 p.m.
Details
- Sources
-
- NHS GMS
- OMIM
- 601094
- Clinvar variants
- Variants in FOXE3
- Penetrance
- None
- Panels with this gene
-
- Fetal anomalies
- Glaucoma (developmental)
- Bilateral congenital or childhood onset cataracts
- Anophthalmia or microphthalmia
- Pneumothorax - familial
- Intellectual disability
- Retinal disorders
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Ocular coloboma
History Filter Activity
6 Dec 2018, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: FOXE3 was added gene: FOXE3 was added to Pneumothorax - familial. Sources: NHS GMS Mode of inheritance for gene: FOXE3 was set to