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  3. EED
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Fetal anomalies

Gene: EED

Green List (high evidence)
EED (embryonic ectoderm development)
EnsemblGeneIds (GRCh38): ENSG00000074266
EnsemblGeneIds (GRCh37): ENSG00000074266
OMIM: 605984, Gene2Phenotype
EED is in 8 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Cohen-Gibson syndrome is an overgrowth disorder characterised by increased somatic parameters apparent from birth and associated with variable intellectual disability. Affected individuals have dysmorphic facial features, advanced bone age, and skeletal abnormalities, including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, and often scoliosis or cervical spine anomalies. Other features may include hypotonia, difficulty walking due to skeletal anomalies, and umbilical hernia. At least 4 unrelated individuals reported.
Created: 17 Jan 2021, 7:16 a.m. | Last Modified: 17 Jan 2021, 7:16 a.m.
Panel Version: 0.3391

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cohen-Gibson syndrome, MIM# 617561

Publications

Created: 17 Jan 2021, 7:16 a.m.
Last Modified: 17 Jan 2021, 7:16 a.m.
Panel version: Imported from Intellectual disability syndromic and non-syndromic panel version 0.3391

Lauren Akesson (Royal Melbourne Hospital)

I don't know

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: Literature
Created: 22 Mar 2020, 11:34 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cohen-Gibson syndrome

Publications

Created: 22 Mar 2020, 11:34 p.m.

Panel version: Imported from Cataract panel version 0.33

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Genetic Health Queensland
Phenotypes
  • Cohen-Gibson syndrome, MONDO:0060510
  • Cohen-Gibson syndrome, OMIM:617561
OMIM
605984
Clinvar variants
Variants in EED
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eed has been classified as Green List (High Evidence).

17 Jan 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: EED were set to

17 Jan 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: EED was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Jan 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: eed has been classified as Green List (High Evidence).

24 Oct 2021, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EED was added gene: EED was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp Mode of inheritance for gene: EED was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EED were set to Cohen-Gibson syndrome, MONDO:0060510; Cohen-Gibson syndrome, OMIM:617561