Neonatal diabetes
Gene: GATA6EnsemblGeneIds (GRCh38): ENSG00000141448
EnsemblGeneIds (GRCh37): ENSG00000141448
OMIM: 601656, Gene2Phenotype
GATA6 is in 12 panels
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: GATA6; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Pancreatic agenesis and congenital heart defects.Created: 11 Jan 2019, 4:27 p.m.
Sian Ellard (University of Exeter Medical School)
Rebecca Foulger (Genomics England curator)
Added 'mosaicism' tag based on PMID:28049534 (Yau et al., 2017) who report parental mosaicism for a GATA6 mutation causing pancreatic agenesis and neonatal diabetes mellitus in the proband.Created: 25 May 2017, 11:41 a.m.
Comment when marking as ready: Marked as Ready: April 24th 2017.Created: 24 Apr 2017, 9:04 a.m.
Comment on list classification: Updated rating from Red to Green: Green expert review plus confirmed DD-G2P gene for 'Pancreatic agenesis and congenital heart defects, MIM:600001': >3 unrelated cased of GATA6 mutations causing MIM:600001. Plus part of the Exeter neonatal diabetes screen.Created: 24 Apr 2017, 9:03 a.m.
Comment on mode of inheritance: Monoallelic mode of inheritance confirmed by OMIM and G2P.Created: 24 Apr 2017, 9:01 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Phenotypes
-
- Pancreatic agenesis and congenital heart defects, OMIM:600001
- neonatal diabetes mellitus, MONDO:0016391
- Tags
- 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
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects, 600001; neonatal diabetes mellitus; Pancreatic agenesis and congenital heart defects to Pancreatic agenesis and congenital heart defects, OMIM:600001; neonatal diabetes mellitus, MONDO:0016391
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: GATA6 were changed from Pancreatic agenesis and congenital heart defects, 600001; neonatal diabetes mellitus to Pancreatic agenesis and congenital heart defects, 600001; neonatal diabetes mellitus; Pancreatic agenesis and congenital heart defects
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to GATA6. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Rebecca Foulger (Genomics England curator)Promoted panel to Version 1: 31st May 2017. This panel is largely aligned with the Exeter Molecular Genetics Laboratory neonatal diabetes screen. Note that 8 genes feature on the Exeter 8-gene panel for patients with 'neonatal diabetes and autoimmune disease' (FOXP3, IL2RA, ITCH, LRBA, SIRT1, STAT1, STAT3 and STAT5). ITCH, SIRT1, STAT1 and STAT5A/B do not feature on this panel following correspondance with Elisa De-Franco (University of Exeter Medical School) that, at the time of curation, none of the patients with mutations in ITCH, SIRT1, STAT1 and STAT5b had diabetes diagnosed in the neonatal period, and therefore there is currently insufficient evidence to include these genes in this neonatal diabetes panel.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for GATA6 were set to Pancreatic agenesis and congenital heart defects, 600001; neonatal diabetes mellitus
Set publications
Rebecca Foulger (Genomics England curator)Publications for GATA6 were set to 22158542; 23223019; 28049534
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for GATA6 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for GATA6 were set to Pancreatic agenesis and congenital heart defects, 600001
Set publications
Rebecca Foulger (Genomics England curator)Publications for GATA6 were set to 22158542; 23223019
Added New Source
Ellen McDonagh (Genomics England Curator)GATA6 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Eligibility statement prior genetic testing
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene GATA6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)GATA6 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: UKGTN