Gene Symbol:
GATA6
HGNC:4174
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
18q11.2
Filters:

Ambry Genetics classifications

tetralogy of fallot
Submitted as: OMIM:187500
AD
08/31/2018
Evaluated
03/02/2021
Submitted
conotruncal heart malformations
Submitted as: OMIM:217095
AR
08/31/2018
Evaluated
03/02/2021
Submitted
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Submitted as: OMIM:600001
AD
08/31/2018
Evaluated
03/02/2021
Submitted
atrial septal defect 9
Submitted as: OMIM:614475
AD
08/30/2018
Evaluated
03/02/2021
Submitted

ClinGen classifications

GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes
AD
11/21/2023
Evaluated
04/21/2024
Submitted

Genomics England PanelApp classifications

pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Submitted as: OMIM:600001
AD
02/19/2020
Evaluated
03/31/2021
Submitted
neonatal diabetes mellitus
AD
02/19/2020
Evaluated
03/31/2021
Submitted
metabolic syndrome
AD
01/29/2021
Evaluated
03/31/2021
Submitted

Invitae classifications

pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Submitted as: OMIM:600001
AD
08/31/2021
Evaluated
11/30/2023
Submitted
atrioventricular septal defect 5
Submitted as: OMIM:614474
AD
09/27/2021
Evaluated
11/30/2023
Submitted

Orphanet classifications

pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Submitted as: Orphanet:2255
AD
09/14/2021
Evaluated
09/14/2021
Submitted
familial atrial fibrillation
Submitted as: Orphanet:334
AD
09/14/2021
Evaluated
09/14/2021
Submitted

G2P classifications

atrioventricular septal defect 5
Submitted as: OMIM:614474
AD
07/22/2015
Evaluated
09/11/2023
Submitted
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Submitted as: OMIM:600001
AD
07/22/2015
Evaluated
09/11/2023
Submitted
atrial septal defect 9
Submitted as: OMIM:614475
AD
07/22/2015
Evaluated
09/11/2023
Submitted

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