Skeletal dysplasia
Gene: EFTUD2
Dysostoses with predominant craniofacial involvement gp of SD. Many 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
Mandibulofacial dysostosis, Guion-Almeida type 610536
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: EFTUD2; 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: 7 Jul 2016, 8:12 a.m.
Comment on list classification: Tier 3 gene for skeletal dysplasia (Ana Beleza)Created: 7 Jul 2016, 8:10 a.m.
Tier 3Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mandibulofacial dysostosis, Guion-Almeida type 610536
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Mandibulofacial dysostosis, Guion-Almeida type 610536 for gene: EFTUD2 Publications for gene EFTUD2 were changed from 19334086; 16760738; 22305528 to 16760738; 19334086; 22305528
Source NHS GMS was added to EFTUD2. 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 EFTUD2 were set to Mandibulofacial dysostosis, Guion-Almeida type 610536
Publications for EFTUD2 were set to 19334086; 16760738; 22305528
This gene has been classified as Green List (High Evidence).
EFTUD2 was added to Unexplained skeletal dysplasiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
EFTUD2 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list
EFTUD2 was created by anabeleza