DEMO Diabetes neonatal onset
Gene: RFX6
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: RFX6; 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: Syndromic Neonatal diabetes; pancreatic hypoplasia, gallbladder aplasia and intestinal atresia; Mitchell-Riley syndrome.Created: 11 Jan 2019, 4:27 p.m.
Comment when marking as ready: Marked as Ready: April 25th 2017.Created: 25 Apr 2017, 2:32 p.m.
Comment on mode of inheritance: Biallelic mode of inheritance supported by OMIM and literature.Created: 25 Apr 2017, 10 a.m.
Comment on list classification: Updated rating from Red to Green: 1 green expert review plus >3 unrelated cases of RFX6 mutations causing Mitchell-Riley syndrome/neonatal diabetes. Plus part of Exeter neonatal diabetes screen.Created: 25 Apr 2017, 9:58 a.m.
Smith et al. (2010, PMID:20148032) analyzed the candidate gene RFX6 in 6 patients with neonatal diabetes, hypoplastic or annular pancreas, intestinal atresia and/or malrotation, and gallbladder hypoplasia or agenesis (Mitchell-Riley syndrome, MIM:615710), and identified homozygosity or compound heterozygosity for RFX6 mutations in 5 of the 6 probands.Created: 25 Apr 2017, 9:56 a.m.
PMID:21965172 (Spiegel et al., 2011) summarises 7 patients (including a new patient to this publication) with neonatal diabetes and homozygous RFX6 mutations.Created: 25 Apr 2017, 9:56 a.m.
Comment on list classification: Promoted from red to green due to expert review and additional evidence from a literature search.Created: 15 Jun 2016, 3:02 p.m.
gene: RFX6 was added gene: RFX6 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFX6 were set to 21215266; 26264437; 21965172; 20148032 Phenotypes for gene: RFX6 were set to pancreatic hypoplasia, gallbladder aplasia and intestinal atresia; Mitchell-Riley syndrome, 615710 (includes neonatal diabetes); Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; Mitchell-Riley syndrome; Syndromic Neonatal diabetes