Familial diabetes
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: recessive syndromic diabetes and autosomal dominant MODY.Created: 11 Jan 2019, 10:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
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.
This gene has been classified as Green List (High Evidence).
Phenotypes for RFX6 were set to Mitchell-Riley syndrome
Mode of inheritance for RFX6 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Publications for RFX6 were set to 27185633; 27167055; 26770845; 26761945; 26559129; 26264437; 25048417
RFX6 was added to Familial diabetespanel. Sources: UKGTN