Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Hearing loss

Gene: EYA1

Green List (high evidence)

EYA1 (EYA transcriptional coactivator and phosphatase 1)
EnsemblGeneIds (GRCh38): ENSG00000104313
EnsemblGeneIds (GRCh37): ENSG00000104313
OMIM: 601653, Gene2Phenotype
EYA1 is in 14 panels

6 reviews

Eleanor Williams (Genomics England Curator)

PMID: 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 gene
Created: 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

Ellen McDonagh (Genomics England Curator)

New review confirms gene status and mode of inheritance; no changes required.
Created: 11 Oct 2018, 1:45 p.m.

Lampros Mavrogiannis (Leeds Genetics Laboratory)

Green List (high evidence)

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

Jun Shen (Harvard Medical School)

syndromic
Created: 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]

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Expert review and OMIM confirmed
Created: 29 Jan 2016, 3:22 p.m.

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

Syndromic (BOR) but would want to know about a Tier 1 variant
Created: 19 Oct 2015, 7:24 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • 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
OMIM
601653
Clinvar variants
Variants in EYA1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Nov 2020, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

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

17 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

17 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

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

1 Feb 2016, Gel status: 4

Set Mode of Inheritance

Damian Smedley (Genomics England Curator)

Mode of inheritance for EYA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Jan 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

EYA1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

EYA1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

EYA1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EYA1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert