Deafness and congenital structural abnormalities
Gene: EFTUD2Comment on list classification: Green gene on the Bilateral microtia (Version 1.10), Ear malformations with hearing impairment (Version 0.103) and Familial hemifacial microsomia (Version 0.148) gene panels which were combined to create this panel.Created: 14 Oct 2016, 11:42 a.m.
Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.Created: 12 Sep 2016, 2:17 p.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. Eight variants reported.Created: 8 Sep 2016, 8:54 a.m.
Comment on list classification: Expert reviewCreated: 8 Sep 2016, 8:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#610536:Mandibulofacial dysostosis, Guion-Almeida type [Short stature (of varying degrees); Microcephaly, progressive (-3 to 6 SD); Trigonocephaly; Midface hypoplasia; Malar hypoplasia; Prominent philtrum; Micrognathia; Buccal tags; Microtia; Preauricular skin tags; External auditory meatus atresia; Low-set ears; Overfolded helices; Hypoplasia of the upper part of the helix; Dysplastic ears; Conductive hearing loss; Upslanting palpebral fissures; Downslanting palpebral fissures; Epicanthal folds; Telecanthus; Choanal atresia (in some patients); Upturned nose; Short nose; Anteverted nares; Cleft palate (in some patients); Atrial septal defect; Ventricular septal defect (in some patients); Breathing difficulties due to choanal atresia; Esophageal atresia (in some patients); Feeding problems; Preaxial polydactyly; Slender fingers; Proximally placed thumbs (in some patients); Delayed psychomotor development; Severe speech delay; Seizures (in some patients)]
Publications
Phenotypes
610536
Publications
Variants in this GENE are reported as part of current diagnostic practice
MIM 603892Created: 3 Feb 2016, 4:43 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Treacher Collins-like syndrome (mandibulofacial dysostosis) with microcephaly, microtia and malformations
Publications
26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for EFTUD2 were set to Bilateral Microtia; 610536; Mandibulofacial dysostosis, Guion-Almeida type, 610536;Treacher Collins-like syndrome (mandibulofacial dysostosis) with microcephaly, microtia and malformations
Publications for EFTUD2 were set to 22305528;16760738; 19334086; 22305528; 22541558; 23188108; 7584026; 9233818
EFTUD2 was added to Deafness and congenital structural abnormalitiespanel. Source: Eligibility statement prior genetic testing
EFTUD2 was added to Deafness and congenital structural abnormalitiespanel. Source: UKGTN EFTUD2 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen
EFTUD2 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Eligibility statement exclusion criteria,Expert Review Green
EFTUD2 was created by sleigh