Familial diabetes
Gene: RFX6
RFX6 (regulatory factor X6)
EnsemblGeneIds (GRCh38): ENSG00000185002
EnsemblGeneIds (GRCh37): ENSG00000185002
OMIM: 612659, Gene2Phenotype
RFX6 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000185002
EnsemblGeneIds (GRCh37): ENSG00000185002
OMIM: 612659, Gene2Phenotype
RFX6 is in 10 panels
3 reviews
Ivone Leong (Genomics England Curator)
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)
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
- Expert Review Green
- UKGTN
- Phenotypes
-
- Mitchell-Riley syndrome
- OMIM
- 612659
- Clinvar variants
- Variants in RFX6
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Non-syndromic familial congenital anorectal malformations
- DDG2P
- Multi-organ autoimmune diabetes
- Intestinal failure or congenital diarrhoea
- Fetal anomalies
- Familial diabetes
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Intellectual disability
History Filter Activity
15 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
15 Jun 2016, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for RFX6 were set to Mitchell-Riley syndrome
15 Jun 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for RFX6 was changed to BIALLELIC, autosomal or pseudoautosomal
15 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
15 Jun 2016, Gel status: 1
Set publications
Ellen McDonagh (Genomics England Curator)Publications for RFX6 were set to 27185633; 27167055; 26770845; 26761945; 26559129; 26264437; 25048417
28 Apr 2015, Gel status: 1
Added New Source
GEL ()RFX6 was added to Familial diabetespanel. Sources: UKGTN