Multi-organ autoimmune diabetes
Gene: RFX6EnsemblGeneIds (GRCh38): ENSG00000185002
EnsemblGeneIds (GRCh37): ENSG00000185002
OMIM: 612659, Gene2Phenotype
RFX6 is in 10 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Removed due to expert review.Created: 22 Jul 2016, 3:10 p.m.
Sian Ellard (University of Exeter Medical School)
Remove gene from panelCreated: 8 Dec 2015, 2:32 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- UKGTN
- Phenotypes
-
- Neonatal Diabetes
- Tags
- OMIM
- 612659
- Clinvar variants
- Variants in RFX6
- Penetrance
- Complete
- Panels with this gene
-
- Non-syndromic familial congenital anorectal malformations
- DDG2P
- Multi-organ autoimmune diabetes
- Monogenic diabetes
- Intestinal failure or congenital diarrhoea
- Fetal anomalies
- Familial diabetes
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Intellectual disability
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: RFX6.
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
Added New Source
Ellen McDonagh (Genomics England Curator)RFX6 was added to Multi-organ autoimmune diabetespanel. Sources: UKGTN