Anophthalmia_Microphthalmia_Coloboma
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)
Variants in this gene are responsible for multiple eye phenotypes including microphthalmia, reviewed in PMID 35918037
Sources: Expert ReviewCreated: 21 Oct 2023, 6:33 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
microphthalmia, MONDO:0021129, EPHA2-related
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- microphthalmia, MONDO:0021129, EPHA2-related
- 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).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: epha2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: EPHA2 was added gene: EPHA2 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Expert Review Mode of inheritance for gene: EPHA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: EPHA2 were set to 35918037 Phenotypes for gene: EPHA2 were set to microphthalmia, MONDO:0021129, EPHA2-related Review for gene: EPHA2 was set to GREEN