Cataract
Gene: EED
EED (embryonic ectoderm development)
EnsemblGeneIds (GRCh38): ENSG00000074266
EnsemblGeneIds (GRCh37): ENSG00000074266
OMIM: 605984, Gene2Phenotype
EED is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000074266
EnsemblGeneIds (GRCh37): ENSG00000074266
OMIM: 605984, Gene2Phenotype
EED is in 8 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Single individual reported, unclear at present whether this a feature of the phenotype or a coincidence.Created: 23 Mar 2020, 4:13 a.m. | Last Modified: 23 Mar 2020, 4:13 a.m.
Panel Version: 0.42
Lauren Akesson (Royal Melbourne Hospital)
Cataract has been reported in a single proband with a heterozygous missense variant in EED (no functional studies performed) (PMID 25787343). Cataracts have not been reported in subsequent probands (PMID 27193220 ; 27868325 ; 28229514 ; 29410511 ; 30858506).
Sources: LiteratureCreated: 22 Mar 2020, 11:34 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cohen-Gibson syndrome
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Phenotypes
-
- Cohen-Gibson syndrome
- OMIM
- 605984
- Clinvar variants
- Variants in EED
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
23 Mar 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: eed has been classified as Red List (Low Evidence).
23 Mar 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: eed has been classified as Red List (Low Evidence).
22 Mar 2020, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Lauren Akesson (Royal Melbourne Hospital)gene: EED was added gene: EED was added to Cataract. Sources: Literature Mode of inheritance for gene: EED was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EED were set to 25787343 Phenotypes for gene: EED were set to Cohen-Gibson syndrome Penetrance for gene: EED were set to unknown Review for gene: EED was set to AMBER