Deafness and congenital structural abnormalities

Gene: EYA1

Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. Numerous variants reported.

Created: 14 Sep 2016, 8:36 a.m.

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, 11:44 a.m.

Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.

Created: 12 Sep 2016, 2:18 p.m.

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#113650:Branchiootorenal syndrome 1, with or without cataracts [Long, narrow face; Facial nerve paralysis (10% of patients); Hearing loss (95% of patients); Sensorineural hearing loss (20% of patients); Conductive hearing loss (30% of patients); Mixed hearing loss (50% of patients); Preauricular pits (70-80% of patients); Microtia (30-60% of patients); Cup-shaped ears (30-60% of patients); Malformed pinnae (30-60% of patients); Hypoplastic pinnae (30-60% of patients); Narrowed external ear canal (30% of patients); Unconnected or fused stapes and incus; Stapes fixation; Bulbous internal auditory canal; Cochlear malformation; Hypoplastic cochlea; Mondini malformation; Lacrimal duct aplasia or stenosis (25% of patients); High, arched palate; Cleft palate; Bifid uvula; Overbite; Gustatory lacrimation; Branchial cleft fistulas or cysts, usually bilateral (50 to 60% of patients); Renal anomalies (67% of patients); Renal dysplasia/aplasia; Renal collecting system anomalies; Polycystic kidneys; Abnormal rotation of the kidneys; Vesicoureteric reflux]; #166780:?Otofaciocervical syndrome [Conductive hearing loss; Prominent auricles; Large conchae; Preauricular fistulas; Sunken nasal root; Narrow nose; Long face; Lateral cervical fistulas; Long neck; Sloping shoulders; Low-set clavicles; Winged scapulas; Mild mental retardation]; #602588:Branchiootic syndrome 1 [Retrognathia; Sensorineural hearing loss; Conductive hearing loss; Mixed hearing loss; Preauricular pits; Microtia; Malformed pinnae; Hypoplastic pinnae; Cup-shaped ears; Low-set ears; Narrowed external ear canal; Unconnected or fused stapes and incus; Stapes fixation; Bulbous internal auditory canal; Cochlear malformation; Hypoplastic cochlea; Branchial cleft fistulas or cysts, usually bilateral]

Publications

• PMID:10072433
• 10471511
• 10655545
• 10991693
• 11409867
• 11703923
• 11734542
• 12404110
• 14517553
• 14628042
• 14628052
• 14628053
• 15146463
• 15226428
• 15479196
• 15493068
• 16441263
• 16691597
• 16990542
• 18177466
• 18220287
• 19206155
• 19234442
• 21280147
• 2773990
• 5365063
• 9006082
• 9020840
• 9342347
• 9359046
• 9361030
• 9603436

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Branchio-oto-renal syndrome which includes microtia

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