1. Genes and Genomic Entities
  2. GATA6

GATA6

GATA binding protein 6
OMIM: 601656, Gene2Phenotype

13 panels

Panel Reviews Mode of inheritance Details
13 panels
No list GATA6 in Multi-organ autoimmune diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.11

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Neonatal Diabetes
  • Monogenic Diabetes
Tags
  • curated_removed
Green GATA6 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Pancreatic agenesis and congenital heart defects
  • PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS
Green GATA6 in Neonatal diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Pancreatic agenesis and congenital heart defects, OMIM:600001
  • neonatal diabetes mellitus, MONDO:0016391
Tags
  • mosaicism
Green GATA6 in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
Green GATA6 in Familial non syndromic congenital heart disease

Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.80

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Tetralogy of Fallot
Green GATA6 in Monogenic diabetes


Version 2.58
Latest signed off version: v2.2 (25 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OMIM:600001
  • Metabolic syndrome, MONDO:0004955 (coronary artery disease, hypertension, central obesity and diabetes)
Amber GATA6 in Dilated and arrhythmogenic cardiomyopathy

Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.22
Latest signed off version: v2.8 (22 Mar 2023)

Component of the following Super Panels:

  • Sudden unexplained death or survivors of a cardiac event

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • NHS GMS
    Green GATA6 in Fetal anomalies


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ATRIAL SEPTAL DEFECT 9
    • PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS
    • ATRIOVENTRICULAR SEPTAL DEFECT 5
    Green GATA6 in DDG2P


    Version 3.88
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS 600001
    • ATRIOVENTRICULAR SEPTAL DEFECT 5 614474
    • ATRIAL SEPTAL DEFECT 9 614475
    Red GATA6 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.110
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review Unknown
    Sources
    • Expert Review Red
    Phenotypes
    • CONOTRUNCAL HEART MALFORMATIONS
    • CTHM
    Amber GATA6 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Atrioventricular septal defect 5, 614474
    • Atrial septal defect 9, 614475
    • Pancreatic agenesis and congenital heart defects, 600001
    • Persistent truncus arteriosus, 217095
    • Tetralogy of Fallot, 187500
    Amber GATA6 in Paediatric or syndromic cardiomyopathy


    Version 3.47
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • NHS GMS
    Green GATA6 in Severe Paediatric Disorders


    Version 1.184

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Persistent truncus arteriosus, 217095
    • Tetralogy of Fallot, 187500
    • Atrioventricular septal defect 5, 614474
    • Atrial septal defect 9, 614475
    • Pancreatic agenesis and congenital heart defects, 600001