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Paediatric or syndromic cardiomyopathy

Gene: GATA6

Amber List (moderate evidence)

GATA6 (GATA binding protein 6)
EnsemblGeneIds (GRCh38): ENSG00000141448
EnsemblGeneIds (GRCh37): ENSG00000141448
OMIM: 601656, Gene2Phenotype
GATA6 is in 12 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

The gene-disease relationship between GATA6 and autosomal dominant dilated cardiomyopathy has been classified as No Known Disease Relationship by ClinGen (Dilated Cardiomyopathy GCEP, December 2024).
Created: 13 Jan 2026, 4:11 p.m. | Last Modified: 13 Jan 2026, 4:11 p.m.
Panel Version: 7.92

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.
Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16

History Filter Activity

3 Dec 2019, Gel status: 2

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: GATA6 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

2 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: GATA6 was added gene: GATA6 was added to Cardiomyopathies - including childhood onset. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: GATA6 was set to