EYA1

EYA transcriptional coactivator and phosphatase 1
OMIM: 601653, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green EYA1 in Deafness and congenital structural abnormalities

Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.19

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Eligibility statement prior genetic testing
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • 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

Red EYA1 in Cataracts

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.110
Latest signed off version: v2.76 (5 Aug 2021)

review Not set
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Branchiootorenal syndrome 1, with or without cataracts, 113650
  • Anterior segment anomalies with or without cataract, 113650
  • Branchiootic syndrome 1, 602588
  • Otofaciocervical syndrome, 166780

Red EYA1 in Ductal plate malformation


Version 1.19

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Branchiootic syndrome 1 (602588)
  • Branchiootorenal syndrome 1, with or without cataracts (113650)

Green EYA1 in Unexplained kidney failure in young people

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.113

Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Branchiootorenal syndrome 1, with or without cataracts 113650

    Green EYA1 in CAKUT

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 1.169

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Branchiootorenal syndrome 1, with or without cataracts, 113650
    • Anterior segment anomalies with or without cataract, 113650
    • Branchiootic syndrome 1, 602588
    • Otofaciocervical syndrome, 166780
    • Branchiootorenal Spectrum Disorders

    Green EYA1 in Unexplained paediatric onset end-stage renal disease


    Version 1.37
    Latest signed off version: v1.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • Branchiootorenal syndrome 1, with or without cataracts, 113650
    • Otofaciocervical syndrome, 166780
    • Branchiootic syndrome 1, 602588
    • Branchiootorenal syndrome 1, with or without cataracts
    • Branchiootorenal Spectrum Disorders
    • Anterior segment anomalies with or without cataract, 113650

    Green EYA1 in Fetal anomalies


    Version 1.900
    Latest signed off version: v1.92 (21 Aug 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • BRANCHIOOTORENAL SYNDROME TYPE 1

    Green EYA1 in DDG2P


    Version 2.76
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • BRANCHIOOTORENAL SYNDROME TYPE 1 113650
    • OTOFACIOCERVICAL SYNDROME 166780
    Tags
    • watchlist

    Green EYA1 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.247
    Latest signed off version: v2.5 (13 Feb 2020)

    review 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

    Green EYA1 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.70
    Latest signed off version: v2.2 (4 Mar 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • BRANCHIOOTORENAL SYNDROME 1
    • BOR1

    Red EYA1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1659
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Branchiootorenal syndrome 1, with or without cataracts, 113650
    • Anterior segment anomalies with or without cataract, 113650
    • Branchiootic syndrome 1, 602588
    • ?Otofaciocervical syndrome, 166780

    Red EYA1 in Structural eye disease


    Version 1.132
    Latest signed off version: v1.3 (4 Mar 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    Phenotypes
    • Branchiootic syndrome 1, 602588
    • Anterior segment anomalies with or without cataract, 113650

    Green EYA1 in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Expert review green
    • Literature
    Phenotypes
    • Congenital or cystic renal disease
    • MIM 113650
    • Branchiootorenal syndrome 1 with or without cataracts

    Green EYA1 in Severe Paediatric Disorders


    Version 1.127

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • ?Otofaciocervical syndrome, 166780
    • Branchiootorenal syndrome 1, with or without cataracts, 113650
    • Anterior segment anomalies with or without cataract, 602588
    • Branchiootic syndrome 1, 602588