This Panel is marked as Internal
DEMO Diabetes neonatal onset
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
4 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: Syndromic Neonatal diabetes; pancreatic hypoplasia, gallbladder aplasia and intestinal atresia; Mitchell-Riley syndrome.Created: 11 Jan 2019, 4:27 p.m.
Sian Ellard (University of Exeter Medical School)
Rebecca Foulger (Genomics England curator)
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.
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
-
- UKGTN
- Eligibility statement prior genetic testing
- NHS GMS
- Expert Review Green
- NHS GMS
- Phenotypes
-
- 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
- OMIM
- 612659
- Clinvar variants
- Variants in RFX6
- Penetrance
- None
- Publications
- Panels with this gene
-
- Non-syndromic familial congenital anorectal malformations
- Intellectual disability
- Familial diabetes
- Multi-organ autoimmune diabetes
- Neonatal diabetes
- Monogenic diabetes
- Intestinal failure or congenital diarrhoea
- Fetal anomalies
- DDG2P
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
History Filter Activity
2 Dec 2019, Gel status: 3
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 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