Bilateral congenital or childhood onset cataracts
Gene: EED
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
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
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
Tag for-review was removed from gene: EED.
Source Expert Review Red was added to EED. Rating Changed from Green List (high evidence) to Red List (low evidence)
Tag for-review tag was added to gene: EED.
Phenotypes for gene: EED were changed from Cohen-Gibson syndrome 617561 to Cohen-Gibson syndrome, OMIM:617561,MONDO:0060510
This gene has been classified as Green List (High Evidence).
EED was created by sleigh
EED was added to Cataractspanel. Sources: Literature