Limb disordersGene: EFTUD2
Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. At least 8 variants reported in cases of Mandibulofacial dysostosis, Guion-Almeida type 610536
Created: 5 Apr 2018, 1:31 p.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.
Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mandibulofacial dysostosis, Guion-Almeida type 610536
Variants in this GENE are reported as part of current diagnostic practice
Ana Beleza: Tier 3
Publications for EFTUD2 were set to 22305528
Mode of inheritance for EFTUD2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
London South East RGC GSTT was added to EFTUD2. Panel: Limb disorders
EFTUD2 was added to Limb disorders panel. Sources: Viapath
EFTUD2 was created by Ellen McDonagh