PanelApp
  1. Genes and Genomic Entities
  2. EYA1

EYA1

EYA transcriptional coactivator and phosphatase 1
OMIM: 601653, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green EYA1 in Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic


Level 2: Renal and urinary tract disorders
Version 0.159

Component of the following Super Panels:

  • Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
  • Kidneyome_SuperPanel

    		•  1 review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Green EYA1 in Mendeliome


    Version 1.3512

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Anterior segment anomalies with or without cataract MIM#602588
    • Branchiootic syndrome 1 MIM#602588
    • Branchiootorenal syndrome 1, with or without cataracts MIM#113650

    Green EYA1 in Deafness_IsolatedAndComplex


    Level 2: Hearing and ear disorders
    Version 1.238

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Branchiootic syndrome 1, MIM# 602588

    Green EYA1 in Deafness_Isolated


    Level 2: Hearing and ear disorders
    Version 1.82

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Melbourne Genomics Health Alliance Deafness Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Branchiootic syndrome 1, MIM# 602588

    Green EYA1 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Branchiootorenal syndrome

    Green EYA1 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.278

    		0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    Phenotypes
    • BOR1
    • BRANCHIOOTORENAL SYNDROME 1

    Green EYA1 in Fetal anomalies


    Version 1.465

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Anterior segment anomalies with or without cataract MIM#602588
    • Branchiootic syndrome 1 MIM#602588
    • Branchiootorenal syndrome 1, with or without cataracts MIM#113650

    Red EYA1 in Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 1.140

    		1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Anterior segment anomalies with or without cataract MIM#602588
    • Branchiootic syndrome 1 MIM#602588
    • Branchiootorenal syndrome 1, with or without cataracts MIM#113650