EYA4

EYA transcriptional coactivator and phosphatase 4
OMIM: 603550, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green EYA4 in Dilated Cardiomyopathy and conduction defects

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.70

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
  • London South GLH
  • North West GLH
  • Wessex and West Midlands GLH
  • Expert Review Green
  • UKGTN
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Cardiomyopathy, dilated, 1J (605362)
  • Deafness, autosomal dominant 10 (601316)
  • Cardiomyopathy, dilated, 1J

Red EYA4 in Dilated cardiomyopathy - adult and teen

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 1.25
Latest signed off version: v1.6 (15 Oct 2020)

Component of the following Super Panels:

  • Sudden cardiac death
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • UKGTN
    • South West GLH
    • Radboud University Medical Center, Nijmegen
    • Wessex and West Midlands GLH
    • Illumina TruGenome Clinical Sequencing Services
    • London South GLH
    • North West GLH
    • Expert list
    • South West GLH
    • London South GLH
    • North West GLH
    • Wessex and West Midlands GLH
    Phenotypes
    • ?Cardiomyopathy, dilated, 1J (605362)
    • Cardiomyopathy, dilated, 1J
    • Deafness, autosomal dominant 10 (601316)

    Green EYA4 in Hearing loss

    Level 3: Non-syndromic hearing loss
    Level 2: Hearing and ear disorders
    Version 2.200
    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
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • hearing loss
    • Nonsyndromic Hearing Loss, Dominant
    • Deafness, autosomal dominant 10, 601316
    • Cardiomyopathy, dilated, 1J, 605362

    Amber EYA4 in Cardiomyopathies - including childhood onset


    Version 1.57
    Latest signed off version: v1.4 (19 Feb 2020)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • South West GLH
    • London South GLH
    Phenotypes
    • Cardiomyopathy, dilated, 1J

    Green EYA4 in Severe Paediatric Disorders


    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • ?Cardiomyopathy, dilated, 1J, 605362
    • Deafness, autosomal dominant 10, 601316