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Newborns main panel

Gene: RFX6

Amber List (moderate evidence)
RFX6 (regulatory factor X6)
EnsemblGeneIds (GRCh38): ENSG00000185002
EnsemblGeneIds (GRCh37): ENSG00000185002
OMIM: 612659, Gene2Phenotype
RFX6 is in 10 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 32893856 - 25 families
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mitchell-Riley Syndrome/neonatal diabetes with pancreatic hypoplasia, intestinal atresia and gallbladder hypoplasia or aplasia
OMIM
612659
Clinvar variants
Variants in RFX6
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to RFX6. Added phenotypes Mitchell-Riley Syndrome/neonatal diabetes with pancreatic hypoplasia, intestinal atresia and gallbladder hypoplasia or aplasia for gene: RFX6 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Mitchell-Riley Syndrome/neonatal diabetes with pancreatic hypoplasia, intestinal atresia and gallbladder hypoplasia or aplasia for gene: RFX6

31 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to RFX6. Added phenotypes Mitchell-Riley Syndrome/neonatal diabetes with pancreatic hypoplasia, intestinal atresia and gallbladder hypoplasia or aplasia for gene: RFX6 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to RFX6. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Mitchell-Riley Syndrome/neonatal diabetes with pancreatic hypoplasia, intestinal atresia and gallbladder hypoplasia or aplasia for gene: RFX6

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: RFX6 was added gene: RFX6 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: RFX6 was set to BIALLELIC, autosomal or pseudoautosomal