Corneal Dystrophy
Gene: FOXE3EnsemblGeneIds (GRCh38): ENSG00000186790
EnsemblGeneIds (GRCh37): ENSG00000186790
OMIM: 601094, Gene2Phenotype
FOXE3 is in 11 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Established gene for anterior segment dysgenesis: cornea affected as part of more complex congenital ocular phenotype, clinical presentation is different to corneal dystrophy.Created: 27 Jul 2020, 8:09 a.m. | Last Modified: 27 Jul 2020, 8:09 a.m.
Panel Version: 0.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256
- OMIM
- 601094
- Clinvar variants
- Variants in FOXE3
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: foxe3 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: FOXE3 were changed from to Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: FOXE3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: foxe3 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FOXE3 was added gene: FOXE3 was added to Corneal Dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: FOXE3 was set to Unknown