GATA4

GATA binding protein 4
OMIM: 600576, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels

Green GATA4 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 0.418

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Atrial septal defect 2 MIM#607941
  • Atrioventricular septal defect 4 MIM#614430
  • Ventricular septal defect 1 MIM#614429

Amber GATA4 in Differences of Sex Development


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.293

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Testicular anomalies with or without congenital heart disease, MIM# 615542

Green GATA4 in Mendeliome


Version 1.1902

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Atrial septal defect 2 MIM#607941
  • Atrioventricular septal defect 4 MIM#614430
  • Ventricular septal defect 1 MIM#614429

Green GATA4 in Monogenic Diabetes


Level 2: Endocrine disorders
Version 0.134

Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • UKGTN
    Phenotypes
    • neonatal diabetes mellitus MONDO:0016391

    Amber GATA4 in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.328

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Primary ovarian insufficiency
    • congenital heart defect

    Green GATA4 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Congenital heart defects

    Green GATA4 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Atrial septal defect 2 MIM#607941
    • Atrioventricular septal defect 4 MIM#614430
    • Ventricular septal defect 1 MIM#614429

    Green GATA4 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • BabySeq Category A gene
    Phenotypes
    • Neonatal diabetes mellitus, MONDO:0016391, GATA4-related
    Tags
    • treatable
    • endocrine

    Green GATA4 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • UKGTN
    • NHS GMS