Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders

Gene: EED

Green List (high evidence)

EED (embryonic ectoderm development)
EnsemblGeneIds (GRCh38): ENSG00000074266
EnsemblGeneIds (GRCh37): ENSG00000074266
OMIM: 605984, Gene2Phenotype
EED is in 6 panels

3 reviews

Rebecca Foulger (Genomics England curator)

Comment on mode of inheritance: Monoallelic MOI supported by OMIM and DD-G2P.
Created: 3 Oct 2017, 11:42 a.m.

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: 5 Sep 2017, 12:40 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cohen-Gibson syndrome 617561

Publications

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Review and Green rating from Kate Tatton-Brown April 2017. Paper in press with AJHG. Also 28229514, 25787343, 27193220, 27868325. We wil be reporting variants in clinical practice soon
Created: 31 May 2019, 9:08 a.m.
Recently Human overgrowth syndrome-causing mutations in the gene EED have been identified.
From abstract (unpublished) Tatton-Brown et al (2017)(http://conf.hinxton.wellcome.ac.uk/advancedcourses/GRD2017Abstactbook.pdf) Human overgrowth syndromes (OGID) are a nebulous group of conditions with height and/or head circumference ≥ 2SD above the mean, together with additional phenotypic abnormalities, the commonest of which is intellectual disability. To explore the genetic architecture of human overgrowth syndromes and growth control, we have performed experimental and bioinformatic analyses of 710 individuals with OGID, identifying patients with OGID-causing mutations in genes including NSD1 (240 cases), EZH2 (34 cases), DNMT3A (18 cases), CHD8 (12 cases) and EED (two cases) and HIST1H1E (five cases). Other genes with OGID-causing mutations, identified in the current study, include NFIX (14 cases), GPC3 (two cases) and BRWD3 (seven cases) in addition to the genes encoding components of the PI3K/AKT pathway (PTEN (16 cases); PPP2R5D (three cases); AKT and PIK3CA (one case each).
Created: 31 Mar 2017, 5:58 p.m.

Mode of inheritance
Unknown

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Cohen-Gibson syndrome, 617561
  • Human overgrowth syndrome type
  • Overgrowth with Intellectual disability
OMIM
605984
Clinvar variants
Variants in EED
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 May 2019, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: EED were changed from Cohen-Gibson syndrome 617561 to Cohen-Gibson syndrome, 617561; Human overgrowth syndrome type; Overgrowth with Intellectual disability

31 May 2019, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: EED were set to 25787343; 27193220; 27868325; 28229514

3 Oct 2017, Gel status: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for EED was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Sep 2017, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for EED were set to Cohen-Gibson syndrome 617561

5 Sep 2017, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for EED were set to 25787343; 27193220; 27868325; 28229514

5 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).

31 Mar 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

EED was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorderspanel. Sources: Other

31 Mar 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

EED was created by LouiseD