Clefting
Gene: GATA6
GATA6 (GATA binding protein 6)
EnsemblGeneIds (GRCh38): ENSG00000141448
EnsemblGeneIds (GRCh37): ENSG00000141448
OMIM: 601656, Gene2Phenotype
GATA6 is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000141448
EnsemblGeneIds (GRCh37): ENSG00000141448
OMIM: 601656, Gene2Phenotype
GATA6 is in 12 panels
1 review
Olivia Niblock (Genomics England Curator)
None of the four main sources cite GATA6 as being linked to clefting phenotypes. There is one paper (cited) which describes the difference in concentration of GATA6 where Cleft palate is induced with dexamethasone in murine models.Created: 31 May 2017, 3:30 p.m.
Mode of inheritance
Unknown
Phenotypes
CONOTRUNCAL HEART MALFORMATIONS; CTHM
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- CONOTRUNCAL HEART MALFORMATIONS
- CTHM
- OMIM
- 601656
- Clinvar variants
- Variants in GATA6
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Dilated and arrhythmogenic cardiomyopathy
- Familial non syndromic congenital heart disease
- DDG2P
- Multi-organ autoimmune diabetes
- Monogenic diabetes
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Clefting
- Familial diabetes
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Intellectual disability
History Filter Activity
31 May 2017, Gel status: 1
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
31 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)GATA6 was created by ellenmcdonagh
31 May 2017, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)GATA6 was added to Cleftingpanel. Sources: Expert Review Red