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Cataracts

Gene: EED

Green List (high evidence)

EED (embryonic ectoderm development)
EnsemblGeneIds (GRCh38): ENSG00000074266
EnsemblGeneIds (GRCh37): ENSG00000074266
OMIM: 605984, Gene2Phenotype
EED is in 7 panels

3 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Based on the available evidence, this gene should be downgraded from Green to Red as there is only 1 individual with cataracts (PMID: 25787343). The patient has undergone bilateral cataract surgery at age 30.
Created: 16 Dec 2020, 11:43 a.m. | Last Modified: 16 Dec 2020, 11:43 a.m.
Panel Version: 2.37

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Only one of the reported individuals had cataracts.
Created: 7 Jul 2020, 9:48 a.m. | Last Modified: 7 Jul 2020, 9:48 a.m.
Panel Version: 2.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cohen-Gibson syndrome, MIM# 617561

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, OMIM:617561,MONDO:0060510
Tags
for-review
OMIM
605984
Clinvar variants
Variants in EED
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Dec 2020, Gel status: 3

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: EED.

16 Dec 2020, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: EED were changed from Cohen-Gibson syndrome 617561 to Cohen-Gibson syndrome, OMIM:617561,MONDO:0060510

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