Non-syndromic familial congenital anorectal malformations

Gene: RFX6

Red List (low evidence)

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

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Rating this gene red as the observed gastrointestintal phenotypes are beyond the scope of the anorectal malformations panel
Created: 1 Nov 2018, 2:59 p.m.
Decision made with the Genomics England clinical team that the observed gastrointestintal phenotypes are beyond the scope of the anorectal malformations panel.
Created: 24 Oct 2018, 10:17 a.m.
Checking with Genomics England Clinical team if the observed phenotype associated with this gene is within the scope of this panel.
Created: 23 Oct 2018, 10:30 a.m.
RFX6 is associated with Mitchell-Riley syndrome in OMIM and MARTINEZ-FRIAS SYNDROME in Gene2Phenotype (confirmed). OMIM state that there is considerable phenotypic overlap between the two syndromes, the latter being characterized by the features of the Mitchell-Riley syndrome except for neonatal diabetes, and including tracheoesophageal fistula in some patients. Both syndromes include intestinal atresia as a major phenotype.

Smith et al. (2010) (PMID: 20148032) report 6 unrelated probands and Sansbury et al. (2015)(PMID:26264437) report 2 related patients (double first cousins) with plausible disease causing variants in RFX6 and Mitchell-Riley syndrome. All affected individuals show duodenal atresia. Some also show intestinal phenotypes such as jejunal atresia, intestinal malrotation, duodenal/jejunal web and Meckel's diverticulum.
Created: 16 Oct 2018, 9:09 a.m.
Comment on list classification: Rated gene Amber as is on expert list.
Created: 19 Sep 2018, 4:22 p.m.
Gene added from expert list from Dr Charles Shaw-Smith (Royal Devon and Exeter NHS Foundation Trust)
Created: 19 Sep 2018, 4:22 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • anorectal malformation
  • Mitchell-Riley syndrome 615710
  • MARTINEZ-FRIAS SYNDROME
OMIM
612659
Clinvar variants
Variants in RFX6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Eleanor Williams: Gene added from expert list fr

1 Nov 2018, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: rfx6 has been classified as Red List (Low Evidence).

1 Nov 2018, Gel status: 1

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: rfx6 has been classified as Red List (Low Evidence).

16 Oct 2018, Gel status: 2

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: RFX6 was changed from to BIALLELIC, autosomal or pseudoautosomal

16 Oct 2018, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: RFX6 were changed from anorectal malformation; Mitchell-Riley syndrome 615710 to anorectal malformation; Mitchell-Riley syndrome 615710; MARTINEZ-FRIAS SYNDROME

16 Oct 2018, Gel status: 2

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: RFX6 were changed from anorectal malformation to anorectal malformation; Mitchell-Riley syndrome 615710

16 Oct 2018, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: RFX6 were set to

19 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: rfx6 has been classified as Amber List (Moderate Evidence).

19 Sep 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes anorectal malformation for gene: RFX6

19 Sep 2018, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: RFX6 was added gene: RFX6 was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list Mode of inheritance for gene: RFX6 was set to Phenotypes for gene: RFX6 were set to anorectal malformation