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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

5 reviews

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

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