Bilateral congenital or childhood onset cataracts
Gene: EPHA2EnsemblGeneIds (GRCh38): ENSG00000142627
EnsemblGeneIds (GRCh37): ENSG00000142627
OMIM: 176946, Gene2Phenotype
EPHA2 is in 2 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 2 May 2024, 1:25 p.m. | Last Modified: 2 May 2024, 1:25 p.m.
Panel Version: 4.14
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sarah Leigh (Genomics England Curator)
Comment on mode of inheritance: PMID: 35918037 highlights that both monoallelic and biallelic EPHA2 variants are responsible for the phenotypes reported in table 1, therefore, the mode of inheritance for EPHA2 should be changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next major review.Created: 19 Oct 2023, 4:49 p.m. | Last Modified: 19 Oct 2023, 4:49 p.m.
Panel Version: 4.6
Sarah Waller (Manchester Centre for Genomic Medicine)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Age-Related Cortical Cataract; Cataract 6, multiple types, 116600
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Is on the Manchester congenital cataracts gene panel, and associated with Cataract 6, multiple types in OMIM.Created: 22 Apr 2016, 5:09 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Cataract 6, multiple types, OMIM:116600
- OMIM
- 176946
- Clinvar variants
- Variants in EPHA2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Arina Puzriakova (Genomics England Curator)Tag Q4_23_MOI was removed from gene: EPHA2.
Added New Source, Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Source NHS GMS was added to EPHA2. Mode of inheritance for gene EPHA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added Tag
Sarah Leigh (Genomics England Curator)Tag Q4_23_MOI tag was added to gene: EPHA2.
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: EPHA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: EPHA2 were changed from Age-Related Cortical Cataract; Cataract 6, multiple types, 116600 to Cataract 6, multiple types, OMIM:116600
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: EPHA2 were set to
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()EPHA2 was added to Cataractspanel. Sources: UKGTN
Added New Source
GEL ()EPHA2 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()EPHA2 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services