Bilateral microtia
Gene: EYA1EnsemblGeneIds (GRCh38): ENSG00000104313
EnsemblGeneIds (GRCh37): ENSG00000104313
OMIM: 601653, Gene2Phenotype
EYA1 is in 12 panels
2 reviews
Jun Shen (Harvard Medical School)
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)
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
-
- CAKUT
- Monogenic hearing loss
- Deafness and congenital structural abnormalities
- Unexplained kidney failure in young people
- Intellectual disability
- Ductal plate malformation
- Bilateral congenital or childhood onset cataracts
- Clefting
- Unexplained young onset end-stage renal disease - additional genes
- Fetal anomalies
- DDG2P
- Structural eye disease
History Filter Activity
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Richard Scott (Genomics England Curator)Phenotypes for EYA1 were set to Bilateral Microtia; pre auricular pits; 113650
Set publications
Richard Scott (Genomics England Curator)Publications for EYA1 were set to 9020840
Set Mode of Inheritance
Richard Scott (Genomics England Curator)Mode of inheritance for EYA1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)EYA1 was added to Bilateral Microtiapanel. Sources: Eligibility statement exclusion criteria
Added New Source
Ellen McDonagh (Genomics England Curator)EYA1 was added to Bilateral Microtiapanel. Sources: Expert list