GATA6

GATA binding protein 6
OMIM: 601656, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green GATA6 in Congenital diaphragmatic hernia Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540
Green GATA6 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540
Amber GATA6 in Dilated Cardiomyopathy Level 2: Cardiovascular disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Dilated cardiomyopathy
Green GATA6 in Mendeliome Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes MONDO:0100540
Green GATA6 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Pancreatic agenesis and congenital heart defects, MIM#600001
Green GATA6 in Monogenic Diabetes Level 2: Endocrine disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes pancreatic hypoplasia-diabetes-congenital heart disease syndrome MONDO:0010802
Amber GATA6 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS
Red GATA6 in Additional findings_Paediatric Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Atrial fibrillation
Red GATA6 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	0 reviews	Unknown	Sources Expert Review Red Phenotypes CTHM CONOTRUNCAL HEART MALFORMATIONS
Green GATA6 in Congenital hypothyroidism Level 3: Thyroid disorders Level 2: Endocrine disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Pancreatic agenesis and congenital heart defects, OMIM# 600001
Green GATA6 in Fetal anomalies Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Expert list Phenotypes Pancreatic agenesis and congenital heart defects, MIM# 600001
Red GATA6 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Atrial fibrillation
Green GATA6 in Transplant Co-Morbidity Level 2: Screening Version 1.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Pancreatic agenesis and congenital heart defects, 600001 Persistent truncus arteriosus, 217095 Tetralogy of Fallot, 187500 Atrial septal defect 9, 614475 Atrioventricular septal defect 5, 614474