Cataracts

Gene: EED

Green List (high evidence)

EED (embryonic ectoderm development)
EnsemblGeneIds (GRCh38): ENSG00000074266
EnsemblGeneIds (GRCh37): ENSG00000074266
OMIM: 605984, Gene2Phenotype
EED is in 6 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotype in OMIM and as a probable G2P. At least 4 variants reported in 4 unrelated cases
Created: 18 Sep 2017, 8:13 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cohen-Gibson syndrome 617561

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cohen-Gibson syndrome 617561
OMIM
605984
Clinvar variants
Variants in EED
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

18 Sep 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

18 Sep 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

EED was added to Cataractspanel. Sources: Literature

18 Sep 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

EED was created by sleigh