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  3. GATA4
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BRIDGE_SPEED_NEURO_20170705

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

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Loss of function
Created: 28 Jul 2017, 9:11 a.m.

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

Publications

Created: 2 Aug 2017, 3:31 p.m.

Panel version: 0.191

Louise Daugherty (Genomics England Curator)

Comment on phenotypes: corrected format issue
Created: 31 Jul 2017, 11:58 a.m.
Created: 31 Jul 2017, 11:58 a.m.

Panel version: 0.66

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • BRIDGE study SPEED NEURO Tier1 Gene
  • Expert Review Green
Phenotypes
  • Atrial septal defect 2, 607941
  • Ventricular septal defect 1, 614429
  • Atrioventricular septal defect 4, 614430
  • ?Testicular anomalies with or without congenital heart disease, 615542
  • Tetralogy of Fallot, 187500
OMIM
600576
Clinvar variants
Variants in GATA4
Penetrance
Complete
Panels with this gene

History Filter Activity

31 Jul 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for GATA4 were set to Atrial septal defect 2, 607941; Ventricular septal defect 1, 614429; Atrioventricular septal defect 4, 614430; ?Testicular anomalies with or without congenital heart disease, 615542; Tetralogy of Fallot, 187500

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

GATA4 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

GATA4 was created by LouiseD