Monogenic hearing loss
Gene: EYA1PMID: 23840632 - Song et al 2013 - analysed EYA1, SIX1 and SIX5 in 7 families (10 patients) - all with typical BOR/BO syndrome, except for one patient who exhibited only mixed type of hearing loss and inner ear anomalies. One missense and three splice site mutations were identified in EYA1, while no mutations were found in either SIX1 or SIX5 geneCreated: 4 Nov 2020, 11:39 a.m. | Last Modified: 4 Nov 2020, 11:40 a.m.
Panel Version: 2.96
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications
New review confirms gene status and mode of inheritance; no changes required.Created: 11 Oct 2018, 1:45 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
syndromicCreated: 17 Feb 2016, 3:35 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#113650:Branchiootorenal syndrome 1, with or without cataracts[Long, narrow faceFacial 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 incusStapes fixationBulbous internal auditory canalCochlear malformationHypoplastic cochleaMondini malformation; Lacrimal duct aplasia or stenosis (25% of patients); High, arched palateCleft palateBifid uvulaOverbiteGustatory lacrimation; Branchial cleft fistulas or cysts, usually bilateral (50 to 60% of patients); Renal anomalies (67% of patients)Renal dysplasia/aplasiaRenal collecting system anomaliesPolycystic kidneysAbnormal 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 lossConductive hearing lossMixed hearing lossPreauricular pitsMicrotiaMalformed pinnaeHypoplastic pinnaeCup-shaped earsLow-set earsNarrowed external ear canalUnconnected or fused stapes and incusStapes fixationBulbous internal auditory canalCochlear malformationHypoplastic cochlea; Branchial cleft fistulas or cysts, usually bilateral]
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:22 p.m.
Syndromic (BOR) but would want to know about a Tier 1 variantCreated: 19 Oct 2015, 7:24 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EYA1 were set to 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
Phenotypes for EYA1 were set to hearing loss; #113650:Branchiootorenal syndrome 1, with or without cataracts; Anterior segment anomalies with or without cataract, 113650; Branchiootic syndrome 1, 602588; Otofaciocervical syndrome, 166780
Publications for EYA1 were set to 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
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 Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
EYA1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
EYA1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
EYA1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert