Deafness and congenital structural abnormalities

Gene: EFTUD2

Comment 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 review

Created: 8 Sep 2016, 8:54 a.m.

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mandibulofacial dysostosis, Guion-Almeida type, microtia

Publications

• 22541558
• 9233818
• 23188108 and many others

Green List (high evidence)

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

• PMID:16760738
• 19334086
• 22305528
• 22541558
• 23188108
• 7584026
• 9233818

Phenotypes
610536

Publications

• 22305528

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

MIM 603892

Created: 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

• 22305528,