Deafness and congenital structural abnormalities

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 16 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P / DD. Numerous variants reported.
Created: 14 Sep 2016, 8:36 a.m.

Ellen McDonagh (Genomics England Curator)

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.

Jun Shen (Harvard Medical School)

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

Maria Bitner-Glindzicz (UCL)

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert list
  • Eligibility statement exclusion criteria
Phenotypes
  • Bilateral Microtia
  • pre auricular pits
  • 113650
  • Familial hemifacial microsomia with preauricular pits
  • Branchiootorenal syndrome 1, with or without cataracts, 113650
  • Hearing loss panel
  • Otofaciocervical Syndrome
  • Branchio-oto-renal syndrome which includes microtia
OMIM
601653
Clinvar variants
Variants in EYA1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

14 Oct 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for EYA1 were set to 9020840;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

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

EYA1 was added to Deafness and congenital structural abnormalitiespanel. Source: Eligibility statement prior genetic testing EYA1 was added to Deafness and congenital structural abnormalitiespanel. Source: UKGTN EYA1 was added to Deafness and congenital structural abnormalitiespanel. Source: Emory Genetics Laboratory EYA1 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen EYA1 was added to Deafness and congenital structural abnormalitiespanel. Source: Illumina TruGenome Clinical Sequencing Services

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

EYA1 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Eligibility statement exclusion criteria,Expert Review Green

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

EYA1 was created by sleigh