Intestinal failure or congenital diarrhoea
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
1 review
Eleanor Williams (Genomics England Curator)
This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.Created: 8 Mar 2022, 11:44 a.m. | Last Modified: 8 Mar 2022, 11:44 a.m.
Panel Version: 1.48
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Mitchell-Riley syndrome, OMIM:615710
- OMIM
- 612659
- Clinvar variants
- Variants in RFX6
- Penetrance
- None
- Panels with this gene
-
- Non-syndromic familial congenital anorectal malformations
- DDG2P
- Multi-organ autoimmune diabetes
- Intestinal failure or congenital diarrhoea
- Intellectual disability
- Fetal anomalies
- Familial diabetes
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
History Filter Activity
8 Mar 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: RFX6 was added gene: RFX6 was added to Intestinal failure. Sources: Expert Review Green Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RFX6 were set to Mitchell-Riley syndrome, OMIM:615710