Skeletal dysplasia
Gene: EIF2AK3
spondylo-epi-(meta)-physeal dysplasias gp of SD. At least 3 cases reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wolcott-Rallison syndrome 226980
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: EIF2AK3; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 11 Jul 2016, 1:40 p.m.
Tier 1Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Wolcott-Rallison syndrome (SED) 226980
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Wolcott-Rallison syndrome 226980 for gene: EIF2AK3
Source NHS GMS was added to EIF2AK3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
Phenotypes for EIF2AK3 were set to Wolcott-Rallison syndrome 226980
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
EIF2AK3 was added to Unexplained skeletal dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen
EIF2AK3 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN
EIF2AK3 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services EIF2AK3 was added to Unexplained skeletal dysplasiapanel. Source: UKGTN EIF2AK3 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Red Model of inheritance for gene EIF2AK3 was set to BIALLELIC, autosomal or pseudoautosomal
EIF2AK3 was added to Unexplained skeletal dysplasiapanel. Sources:
EIF2AK3 was created by sleigh