1. Panels
  2. Fetal anomalies
  3. GATA5
Genes in panel
Prev Next

Fetal anomalies

Gene: GATA5

Amber List (moderate evidence)
GATA5 (GATA binding protein 5)
EnsemblGeneIds (GRCh38): ENSG00000130700
EnsemblGeneIds (GRCh37): ENSG00000130700
OMIM: 611496, Gene2Phenotype
GATA5 is in 3 panels

4 reviews

Arina Puzriakova (Genomics England Curator)

I don't know

Amber rating has been maintained and MOI has been updated from 'BIALLELIC, autosomal or pseudoautosomal' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal', inline with the recent review by the R21 Clinical Oversight Group.
Created: 5 Sep 2025, 4:41 p.m. | Last Modified: 5 Sep 2025, 4:41 p.m.
Panel Version: 6.29
Created: 5 Sep 2025, 4:41 p.m.
Last Modified: 5 Sep 2025, 4:41 p.m.
Panel version: 6.29

Natalie Chandler (North Thames GLH)

I don't know

This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Created: 5 Sep 2025, 4:31 p.m. | Last Modified: 5 Sep 2025, 4:31 p.m.
Panel Version: 6.28
Not green on any panel. Amber of UK fetal anomalies panel. Keeping watch for more biallelic cases presenting with hydrops. No further papers related to hydrops. PMID no extra evidence - monoallelic GATA5 maternally inherited variant with just cardiac features and gene not green on cardiac panels. Keep amber.
Created: 5 Sep 2025, 2:55 p.m. | Last Modified: 5 Sep 2025, 2:55 p.m.
Panel Version: 6.24

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Congenital heart defects, multiple types, 5

Publications

Created: 5 Sep 2025, 2:55 p.m.
Last Modified: 5 Sep 2025, 2:55 p.m.
Panel version: 6.28

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
Created: 29 Aug 2024, 8:33 p.m.
Last Modified: 29 Aug 2024, 8:33 p.m.
Panel version: 4.36

Esther Kinning (NHS Greater Glasgow and Clyde)

I don't know

Hydrops, heart, one reported antenatal case. Amber to watch for more cases of hydrops
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital heart defects and genital anomalies; Congenital heart defects, multiple types, 5; Hydrops fetalis

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.35

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Congenital heart defects, multiple types, 5
  • Congenital heart defects, multiple types, 5, OMIM:617912
OMIM
611496
Clinvar variants
Variants in GATA5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 2025, Gel status: 2

Set mode of inheritance, Set Phenotypes, Set publications

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene GATA5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Congenital heart defects, multiple types, 5 for gene: GATA5 Publications for gene: GATA5 were updated from 33082562 to 40076735; 33082562

29 Aug 2024, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: GATA5 was added gene: GATA5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: GATA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GATA5 were set to 33082562 Phenotypes for gene: GATA5 were set to Congenital heart defects, multiple types, 5, OMIM:617912