1. Panels
  2. Familial non syndromic congenital heart disease
  3. GATA4
STRs in panel
Prev Next

Familial non syndromic congenital heart disease

Gene: GATA4

Green List (high evidence)
GATA4 (GATA binding protein 4)
EnsemblGeneIds (GRCh38): ENSG00000136574
EnsemblGeneIds (GRCh37): ENSG00000136574
OMIM: 600576, Gene2Phenotype
GATA4 is in 10 panels

2 reviews

Alice Gardham (Genomics England)

Comment on list classification: Many reported cases of GATA4 related congenital heart disease
Created: 24 Nov 2016, 4:32 p.m.
Created: 24 Nov 2016, 4:32 p.m.

Panel version: Imported from "Congenital heart disease" panel version 0.9

Ellen McDonagh (Genomics England Curator)

This is a confirmed DD gene for atrial septal defect type 2.
Created: 22 Jul 2016, 8:57 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 22 Jul 2016, 8:57 a.m.

Panel version: Imported from "Congenital heart disease" panel version 0.5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Testicular anomalies with or without congenital heart disease, 615542
  • Atrial septal defect 2, 607941
  • Atrioventricular septal defect 4, 614430
  • Tetralogy of Fallot, 187500
  • Ventricular septal defect 1, 614429
OMIM
600576
Clinvar variants
Variants in GATA4
Penetrance
Complete
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January

19 Dec 2016, Gel status: 4

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for GATA4 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

28 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

28 Nov 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

GATA4 was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Green

28 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GATA4 was created by ellenmcdonagh