Bilateral microtia
Gene: EYA1
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
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
This gene has been classified as Green List (High Evidence).
Phenotypes for EYA1 were set to Bilateral Microtia; pre auricular pits; 113650
Publications for EYA1 were set to 9020840
Mode of inheritance for EYA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
EYA1 was added to Bilateral Microtiapanel. Sources: Eligibility statement exclusion criteria
EYA1 was added to Bilateral Microtiapanel. Sources: Expert list