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  3. GATA5
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Paediatric disorders - additional genes

Gene: GATA5

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

1 review

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

This gene was submitted by Rebecca Whittington on behalf of the South West GLH, for inclusion on the Paediatric disorders panel (https://panelapp.genomicsengland.co.uk/panels/486/)
Created: 26 Nov 2019, 2:38 p.m. | Last Modified: 26 Nov 2019, 2:38 p.m.
Panel Version: 0.35

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Congenital heart defects, multiple types, 5

Created: 26 Nov 2019, 2:38 p.m.
Last Modified: 26 Nov 2019, 2:38 p.m.
Panel version: 0.35

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • South West GLH
Phenotypes
  • Congenital heart defects, multiple types, 5
OMIM
611496
Clinvar variants
Variants in GATA5
Penetrance
None
Panels with this gene

History Filter Activity

26 Nov 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: GATA5 was added gene: GATA5 was added to Paediatric disorders - additional genes. Sources: South West GLH Mode of inheritance for gene: GATA5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: GATA5 were set to Congenital heart defects, multiple types, 5