EPHA2

EPH receptor A2
OMIM: 176946, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Green EPHA2 in Bilateral congenital or childhood onset cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.8
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Cataract 6, multiple types, OMIM:116600
Tags
  • Q4_23_MOI
Amber EPHA2 in Structural eye disease


Version 3.74
Latest signed off version: v3.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Cataract 6, multiple types, OMIM:116600
Tags
  • Q4_23_promote_green
  • Q4_23_MOI
  • Q4_23_NHS_review