Neonatal diabetes
Gene: GATA6
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.
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.
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
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
Source NHS GMS was added to GATA6. Rating Changed from Green List (high evidence) to Green List (high evidence)
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.
Phenotypes for GATA6 were set to Pancreatic agenesis and congenital heart defects, 600001; neonatal diabetes mellitus
Publications for GATA6 were set to 22158542; 23223019; 28049534
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for GATA6 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for GATA6 were set to Pancreatic agenesis and congenital heart defects, 600001
Publications for GATA6 were set to 22158542; 23223019
GATA6 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene GATA6 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
GATA6 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: UKGTN