Bilateral microtia

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

2 reviews

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
  • Eligibility statement exclusion criteria
  • Expert list
Phenotypes
  • Bilateral Microtia
  • pre auricular pits
  • 113650
OMIM
601653
Clinvar variants
Variants in EYA1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

4 Feb 2016, Gel status: 4

Set Phenotypes

Richard Scott (Genomics England Curator)

Phenotypes for EYA1 were set to Bilateral Microtia; pre auricular pits; 113650

4 Feb 2016, Gel status: 4

Set publications

Richard Scott (Genomics England Curator)

Publications for EYA1 were set to 9020840

4 Feb 2016, Gel status: 4

Set Mode of Inheritance

Richard Scott (Genomics England Curator)

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

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

12 Aug 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

EYA1 was added to Bilateral Microtiapanel. Sources: Eligibility statement exclusion criteria

28 Apr 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

EYA1 was added to Bilateral Microtiapanel. Sources: Expert list