GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: EED

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

1 review

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Not listed in SD nosology paper. This is an overgrowth disorder with dysmorphic facial features, and skeletal abnormlaities including flaring of metaphyses of long bones, large hands with long fingers and camptyodactyly, scoliosis/cervical spine anomalies. At least 3 cases reported.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cohen-Gibson syndrome 617561

Publications

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
NHS GMS

Phenotypes

Cohen-Gibson syndrome 617561

OMIM

605984

Clinvar variants

Variants in EED

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: EED was added gene: EED was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: EED was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: EED were set to Cohen-Gibson syndrome 617561

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: EED