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Familial non syndromic congenital heart disease

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

1 review

Alice Gardham (Genomics England)

I don't know

A few cases identified in large cohorts in China ?not fully penetrant. Also some evidence from animal models. Not recognised on G2P
Created: 28 Nov 2016, 12:57 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ventricular septal defect, Tetraology of Fallot

Publications

Created: 28 Nov 2016, 12:57 p.m.

Panel version: 0.2

Details

Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Tetralogy of Fallot (Wei (2013) Int J Med Sci 10,34)
OMIM
611496
Clinvar variants
Variants in GATA5
Penetrance
Complete
Publications
  • doi:10.7150/ijms.5270
Panels with this gene

History Filter Activity

26 Jan 2017, Gel status: 2

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January

28 Nov 2016, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

28 Nov 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GATA5 was added to Familial non syndromic congenital heart diseasepanel. Sources: Radboud University Medical Center, Nijmegen

28 Nov 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

GATA5 was created by ellenmcdonagh