Bilateral congenital or childhood onset cataracts
Gene: EPHA2Comment 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
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
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
Tag Q4_23_MOI tag was added to gene: EPHA2.
Mode of inheritance for gene: EPHA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EPHA2 were changed from Age-Related Cortical Cataract; Cataract 6, multiple types, 116600 to Cataract 6, multiple types, OMIM:116600
Publications for gene: EPHA2 were set to
This gene has been classified as Green List (High Evidence).
EPHA2 was added to Cataractspanel. Sources: UKGTN
EPHA2 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen
EPHA2 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services