Bilateral congenital or childhood onset cataracts
Gene: EEDEnsemblGeneIds (GRCh38): ENSG00000074266
EnsemblGeneIds (GRCh37): ENSG00000074266
OMIM: 605984, Gene2Phenotype
EED is in 6 panels
3 reviews
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 9:09 a.m. | Last Modified: 8 Mar 2022, 9:09 a.m.
Panel Version: 2.98
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)
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)
Associated with phenotype in OMIM and as a probable G2P. At least 4 variants reported in 4 unrelated casesCreated: 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 Red
- Literature
- Phenotypes
-
- Cohen-Gibson syndrome, OMIM:617561,MONDO:0060510
- OMIM
- 605984
- Clinvar variants
- Variants in EED
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: EED.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Red was added to EED. Rating Changed from Green List (high evidence) to Red List (low evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: EED.
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
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Created
Sarah Leigh (Genomics England Curator)EED was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)EED was added to Cataractspanel. Sources: Literature