GATA6 Chromosome 18
GATA binding protein 6
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What This Gene Does
This gene is a member of a small family of zinc finger transcription factors that play an important role in the regulation of cellular differentiation and organogenesis during vertebrate development. This gene is expressed during early embryogenesis and localizes to endo- and mesodermally derived cells during later embryogenesis and thereby plays an important role in gut, lung, and heart development. Mutations in this gene are associated with several congenital defects. [provided by RefSeq, Mar 2012]
Gene Info
Gene Group
GATA zinc finger domain containing
Locus Type
gene with protein product
Location
18q11.2
Ensembl
ENSG00000141448
Associated Conditions (14)
Atrioventricular septal defect 5
Neonatal insulin-dependent diabetes mellitus
Conotruncal heart malformations
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Tetralogy of Fallot
Atrial septal defect 9
Inborn genetic diseases
GATA6-related disorder
Monogenic diabetes
Atypical coarctation of aorta
Primary dilated cardiomyopathy
Abnormal cardiovascular system morphology
Congenital diaphragmatic hernia
Persistent truncus arteriosus
Key Variants
RS117646477
Conflicting classifications of pathogenicity
Atrioventricular septal defect 5, Neonatal insulin-dependent diabetes mellitus, Atrioventricular septal defect 5
Health Risk
RS1385756157
Conflicting classifications of pathogenicity
Atrioventricular septal defect 5, Conotruncal heart malformations, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Health Risk
RS146243018
Conflicting classifications of pathogenicity
Atrioventricular septal defect 5, Inborn genetic diseases, Conotruncal heart malformations
Health Risk
RS146624465
Conflicting classifications of pathogenicity
Atrioventricular septal defect 5, GATA6-related disorder, Atrioventricular septal defect 5
Health Risk
RS149569288
Conflicting classifications of pathogenicity
Monogenic diabetes, Atrioventricular septal defect 5, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Health Risk
RS151176879
Conflicting classifications of pathogenicity
Atrioventricular septal defect 5, Monogenic diabetes, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Health Risk
RS2033059401
Conflicting classifications of pathogenicity
Atrioventricular septal defect 5, Inborn genetic diseases, Atrioventricular septal defect 5
Health Risk
RS368297251
Conflicting classifications of pathogenicity
Atrioventricular septal defect 5, Monogenic diabetes, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Health Risk
RS387906814
Conflicting classifications of pathogenicity
Tetralogy of Fallot, Atrioventricular septal defect 5, Monogenic diabetes
Health Risk
RS387906816
Conflicting classifications of pathogenicity
Atrial septal defect 9, Tetralogy of Fallot, Atrioventricular septal defect 5
Health Risk
RS562588574
Conflicting classifications of pathogenicity
Atrioventricular septal defect 5, Atrioventricular septal defect 5
Health Risk
RS766886560
Conflicting classifications of pathogenicity
Atrioventricular septal defect 5, Inborn genetic diseases, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Health Risk
All Variants (45)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS117646477 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect 5, Neonatal insulin-dependent diabetes mellitus, Atrioventricular septal defect 5 |
| RS1385756157 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect 5, Conotruncal heart malformations, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome |
| RS146243018 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect 5, Inborn genetic diseases, Conotruncal heart malformations |
| RS146624465 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect 5, GATA6-related disorder, Atrioventricular septal defect 5 |
| RS149569288 | Health Risk | Conflicting classifications of pathogenicity | Monogenic diabetes, Atrioventricular septal defect 5, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome |
| RS151176879 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect 5, Monogenic diabetes, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome |
| RS2033059401 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect 5, Inborn genetic diseases, Atrioventricular septal defect 5 |
| RS368297251 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect 5, Monogenic diabetes, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome |
| RS387906814 | Health Risk | Conflicting classifications of pathogenicity | Tetralogy of Fallot, Atrioventricular septal defect 5, Monogenic diabetes |
| RS387906816 | Health Risk | Conflicting classifications of pathogenicity | Atrial septal defect 9, Tetralogy of Fallot, Atrioventricular septal defect 5 |
| RS562588574 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect 5, Atrioventricular septal defect 5 |
| RS766886560 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect 5, Inborn genetic diseases, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome |
| RS770662152 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect 5, Atrioventricular septal defect 5, GATA6-related disorder |
| RS779755261 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect 5, Inborn genetic diseases, Atrioventricular septal defect 5 |
| RS911752926 | Health Risk | Conflicting classifications of pathogenicity | Atrioventricular septal defect 5, Inborn genetic diseases, Atrioventricular septal defect 5 |
| RS1598738032 | Health Risk | Likely pathogenic | Atypical coarctation of aorta, Atypical coarctation of aorta |
| RS2510625479 | Health Risk | Likely pathogenic | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome |
| RS2510626075 | Health Risk | Likely pathogenic | GATA6-related disorder, GATA6-related disorder |
| RS2510626136 | Health Risk | Likely pathogenic | Primary dilated cardiomyopathy, Primary dilated cardiomyopathy |
| RS1277769195 | Health Risk | Pathogenic | Atrioventricular septal defect 5, Atrioventricular septal defect 5 |
| RS1459871632 | Health Risk | Pathogenic | — |
| RS1555628831 | Health Risk | Pathogenic | — |
| RS1555628863 | Health Risk | Pathogenic | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Abnormal cardiovascular system morphology, Congenital diaphragmatic hernia |
| RS1598734446 | Health Risk | Pathogenic | — |
| RS1598737972 | Health Risk | Pathogenic | Persistent truncus arteriosus, Atrioventricular septal defect 5, Persistent truncus arteriosus |
| RS1598737976 | Health Risk | Pathogenic | Atrioventricular septal defect 5, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Atrioventricular septal defect 5 |
| RS2033033528 | Health Risk | Pathogenic | Tetralogy of Fallot, Tetralogy of Fallot |
| RS2033057699 | Health Risk | Pathogenic | Atrioventricular septal defect 5, Atrioventricular septal defect 5 |
| RS2143300665 | Health Risk | Pathogenic | Atrioventricular septal defect 5, Atrioventricular septal defect 5 |
| RS2143300954 | Health Risk | Pathogenic | Atrioventricular septal defect 5, Atrioventricular septal defect 5 |
| RS2510626008 | Health Risk | Pathogenic | Atrioventricular septal defect 5, Atrioventricular septal defect 5 |
| RS2510626168 | Health Risk | Pathogenic | Conotruncal heart malformations, Conotruncal heart malformations |
| RS2510626255 | Health Risk | Pathogenic | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome |
| RS2510627049 | Health Risk | Pathogenic | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome |
| RS2510629614 | Health Risk | Pathogenic | — |
| RS2510632394 | Health Risk | Pathogenic | — |
| RS2510632428 | Health Risk | Pathogenic | GATA6-related disorder, GATA6-related disorder |
| RS387906813 | Health Risk | Pathogenic | Persistent truncus arteriosus, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Persistent truncus arteriosus |
| RS387906817 | Health Risk | Pathogenic | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome |
| RS387906818 | Health Risk | Pathogenic | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Abnormal cardiovascular system morphology, Congenital diaphragmatic hernia |
| RS387906819 | Health Risk | Pathogenic | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome |
| RS587776872 | Health Risk | Pathogenic | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome |
| RS587776936 | Health Risk | Pathogenic | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome |
| RS587777710 | Health Risk | Pathogenic | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Abnormal cardiovascular system morphology, Congenital diaphragmatic hernia |
| RS797045593 | Health Risk | Pathogenic | Pancreatic hypoplasia-diabetes-congenital heart disease syndrome, Pancreatic hypoplasia-diabetes-congenital heart disease syndrome |