Monogenic diabetes

Gene: RFX6

Green List (high evidence)

RFX6 (regulatory factor X6)
EnsemblGeneIds (GRCh38): ENSG00000185002
EnsemblGeneIds (GRCh37): ENSG00000185002
OMIM: 612659, Gene2Phenotype
RFX6 is in 10 panels

3 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: 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.

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities
  • Mitchell-Riley syndrome, 615710
  • recessive syndromic diabetes and autosomal dominant MODY
OMIM
612659
Clinvar variants
Variants in RFX6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: RFX6 were changed from Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; Mitchell-Riley syndrome to Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; Mitchell-Riley syndrome, 615710; recessive syndromic diabetes and autosomal dominant MODY

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Initial gene list and info col

11 Jan 2019, Gel status: 4

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to RFX6.

18 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Mitchell-Riley syndrome for gene: RFX6 Publications for gene RFX6 were changed from Spiegal et al 2011 AM J Med Genet 155:2821-2825; 25048417; 26770845; 26761945; 27185633; 26559129; 26264437; Smith et al 2010 Nature 463:775-780; 27167055 to 25048417; 26770845; 26761945; 27185633; 26559129; 26264437; 27167055

18 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: RFX6 was added gene: RFX6 was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFX6 were set to Spiegal et al 2011 AM J Med Genet 155:2821-2825; 25048417; 26770845; 26761945; 27185633; 26559129; 26264437; Smith et al 2010 Nature 463:775-780; 27167055 Phenotypes for gene: RFX6 were set to Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; Mitchell-Riley syndrome