Cataracts

Gene: EPHA2

Green List (high evidence)

EPHA2 (EPH receptor A2)
EnsemblGeneIds (GRCh38): ENSG00000142627
EnsemblGeneIds (GRCh37): ENSG00000142627
OMIM: 176946, Gene2Phenotype
EPHA2 is in 2 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

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)

Green List (high evidence)

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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Age-Related Cortical Cataract
  • Cataract 6, multiple types, 116600
OMIM
176946
Clinvar variants
Variants in EPHA2
Penetrance
Complete
Panels with this gene

History Filter Activity

14 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

EPHA2 was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

EPHA2 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

EPHA2 was added to Cataractspanel. Sources: Illumina TruGenome Clinical Sequencing Services