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  2. DEMO Diabetes neonatal onset
  3. GATA6
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DEMO Diabetes neonatal onset

Gene: GATA6

Green List (high evidence)
GATA6 (GATA binding protein 6)
EnsemblGeneIds (GRCh38): ENSG00000141448
EnsemblGeneIds (GRCh37): ENSG00000141448
OMIM: 601656, Gene2Phenotype
GATA6 is in 12 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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.
Created: 11 Jan 2019, 4:27 p.m.

Panel version: Imported from Diabetes - neonatal onset panel version 1.13

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Diabetes - neonatal onset panel version 0

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.
Created: 25 May 2017, 11:41 a.m.

Panel version: Imported from Diabetes - neonatal onset panel version 0.129

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green due to expert review and additional evidence.
Created: 7 Jun 2016, 11:23 a.m.
Created: 7 Jun 2016, 11:23 a.m.

Panel version: Imported from Familial diabetes panel version 0.56

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • UKGTN
  • Eligibility statement prior genetic testing
  • NHS GMS
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Pancreatic agenesis and congenital heart defects
  • Pancreatic agenesis and congenital heart defects, 600001
  • neonatal diabetes mellitus
OMIM
601656
Clinvar variants
Variants in GATA6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: GATA6 was added gene: GATA6 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GATA6 were set to 28049534; 23223019; 22158542 Phenotypes for gene: GATA6 were set to Pancreatic agenesis and congenital heart defects; Pancreatic agenesis and congenital heart defects, 600001; neonatal diabetes mellitus