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  2. Monogenic Diabetes
  3. RFX6
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Monogenic Diabetes

Gene: RFX6

Green List (high evidence)
RFX6 (regulatory factor X6)
EnsemblGeneIds (GRCh38): ENSG00000185002
EnsemblGeneIds (GRCh37): ENSG00000185002
OMIM: 612659, Gene2Phenotype
RFX6 is in 9 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 3 unrelated cases with heterozygous variants and a suspected diagnosis of MODY. Null mouse model demonstrates abnormal pancreatic islet cells.
Sources: Expert list
Created: 18 Jun 2020, 7:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Maturity-onset diabetes of the young

Publications

Created: 18 Jun 2020, 7:03 a.m.

Panel version: Imported from Maturity-onset Diabetes of the Young panel version 0.6

Details

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

History Filter Activity

17 Jan 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: RFX6 was added gene: RFX6 was added to Monogenic diabetes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFX6 were set to 27167055; 27185633; 26770845; 26761945; 26264437; 26559129; 25048417 Phenotypes for gene: RFX6 were set to Mitchell-Riley syndrome, 615710; Neonatal diabetes, intestinal atresia and hepatobiliary abnormalities; recessive syndromic diabetes and autosomal dominant MODY