Skeletal dysplasia
Gene: EED
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 LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cohen-Gibson syndrome 617561
Publications
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: EED; Initial rating suggestion: green if considered SDCreated: 6 Mar 2019, 11:36 a.m.
Associated with phenotype in OMIM and as a probable G2P. At least 4 variants reported in 4 unrelated casesCreated: 18 Sep 2017, 8:30 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cohen-Gibson syndrome 617561
Publications
Added phenotypes Cohen-Gibson syndrome 617561 for gene: EED Publications for gene EED were changed from 25787343; 27193220; 27868325; 28229514 to 25787343; 27193220; 27868325; 28229514
Source NHS GMS was added to EED. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
EED was added to Unexplained skeletal dysplasiapanel. Sources: Literature
EED was created by sleigh