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