Cataract
Gene: EPHA2EnsemblGeneIds (GRCh38): ENSG00000142627
EnsemblGeneIds (GRCh37): ENSG00000142627
OMIM: 176946, Gene2Phenotype
EPHA2 is in 3 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Multiple families reported with cataract and also with more complex eye phenotypes.Created: 21 Oct 2023, 6:17 a.m. | Last Modified: 21 Oct 2023, 6:17 a.m.
Panel Version: 0.357
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Cataract 6, multiple types, MIM# 116600
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Cataract 6, multiple types, MIM# 116600
- OMIM
- 176946
- Clinvar variants
- Variants in EPHA2
- 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: epha2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: EPHA2 were changed from to Cataract 6, multiple types, MIM# 116600
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: EPHA2 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: EPHA2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: EPHA2 was added gene: EPHA2 was added to Cataract_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EPHA2 was set to Unknown