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Non-syndromic familial congenital anorectal malformations v0.116 | RFX6 | Eleanor Williams Marked gene: RFX6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.116 | RFX6 | Eleanor Williams Gene: rfx6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.116 | RFX6 | Eleanor Williams Classified gene: RFX6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.116 | RFX6 | Eleanor Williams Added comment: Comment on list classification: Rating this gene red as the observed gastrointestintal phenotypes are beyond the scope of the anorectal malformations panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.116 | RFX6 | Eleanor Williams Gene: rfx6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.103 | RFX6 | Eleanor Williams commented on gene: RFX6: Decision made with the Genomics England clinical team that the observed gastrointestintal phenotypes are beyond the scope of the anorectal malformations panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.103 | RFX6 | Eleanor Williams commented on gene: RFX6: Checking with Genomics England Clinical team if the observed phenotype associated with this gene is within the scope of this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.103 | RFX6 | Eleanor Williams commented on gene: RFX6: Checking with Genomics England Clinical team as to whether the phenotype observed associated with this gene is appropriate for this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.93 | RFX6 | Eleanor Williams Mode of inheritance for gene: RFX6 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.92 | RFX6 | Eleanor Williams Phenotypes for gene: RFX6 were changed from anorectal malformation; Mitchell-Riley syndrome 615710 to anorectal malformation; Mitchell-Riley syndrome 615710; MARTINEZ-FRIAS SYNDROME | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.91 | RFX6 | Eleanor Williams Phenotypes for gene: RFX6 were changed from anorectal malformation to anorectal malformation; Mitchell-Riley syndrome 615710 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.90 | RFX6 | Eleanor Williams Publications for gene: RFX6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.86 | RFX6 |
Eleanor Williams commented on gene: RFX6: 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. |
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Non-syndromic familial congenital anorectal malformations v0.57 | RFX6 | Eleanor Williams Classified gene: RFX6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.57 | RFX6 | Eleanor Williams Added comment: Comment on list classification: Rated gene Amber as is on expert list. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.57 | RFX6 | Eleanor Williams Gene: rfx6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.56 | RFX6 | Eleanor Williams commented on gene: RFX6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.48 | RFX6 | Eleanor Williams Added phenotypes anorectal malformation for gene: RFX6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.47 | RFX6 |
Eleanor Williams 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 |