Glaucoma congenital
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)
Complex eye phenotype, glaucoma described in at least one family.
Sources: Expert listCreated: 2 Aug 2020, 8:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256
- OMIM
- 601094
- Clinvar variants
- Variants in FOXE3
- Penetrance
- None
- Publications
- 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 Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: foxe3 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: FOXE3 was added gene: FOXE3 was added to Glaucoma congenital. Sources: Expert list Mode of inheritance for gene: FOXE3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FOXE3 were set to 27218149 Phenotypes for gene: FOXE3 were set to Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256 Review for gene: FOXE3 was set to AMBER