Skeletal dysplasia
Gene: EZH2
Overgrowth (tall stature) syndromes with skeletal involvement gp of SD. 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
Weaver syndrome
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: EZH2; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reportedCreated: 28 Jul 2016, 11:21 a.m.
Comment on phenotypes: Weaver syndrome 277590Created: 28 Jul 2016, 11:21 a.m.
Tier 2Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Weaver (overgrowth) syndrome 277590
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Weaver syndrome for gene: EZH2
Source NHS GMS was added to EZH2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for EZH2 were set to Weaver syndrome
Mode of inheritance for EZH2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
EZH2 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
EZH2 was added to Unexplained skeletal dysplasiapanel. Sources:
EZH2 was created by sleigh