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Non-syndromic familial congenital anorectal malformations v0.117 | TTC7A | Eleanor Williams Classified gene: TTC7A as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.117 | TTC7A | Eleanor Williams Added comment: Comment on list classification: Rating as red as the observed gastrointestintal phenotypes are beyond the scope of the anorectal malformations panel | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.117 | TTC7A | Eleanor Williams Gene: ttc7a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.103 | TTC7A | Eleanor Williams commented on gene: TTC7A: 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 | TTC7A | Eleanor Williams commented on gene: TTC7A: 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 | TTC7A | Charles Shaw-Smith reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Multiple gastro-intestinal atresias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.103 | TTC7A | Eleanor Williams commented on gene: TTC7A: 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 v0.103 | TTC7A | Charles Shaw-Smith reviewed gene: TTC7A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: BIALLELIC, autosomal or pseudoautosomal; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.89 | TTC7A | Eleanor Williams Mode of inheritance for gene: TTC7A was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.88 | TTC7A | Eleanor Williams Phenotypes for gene: TTC7A were changed from anorectal malformation to anorectal malformation; Gastrointestinal defects and immunodeficiency syndrome 243150; INTESTINAL ATRESIA, MULTIPLE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.87 | TTC7A | Eleanor Williams Publications for gene: TTC7A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.86 | TTC7A | Eleanor Williams commented on gene: TTC7A: TTC7A is associated with Gastrointestinal defects and immunodeficiency syndrome in OMIM and INTESTINAL ATRESIA, MULTIPLE (confirmed) in Gene2Phenotype. Numerous cases of patients TTC7A and gastrointestinal defects and immunodeficiency syndrome have been reported (PMID: 23423984;24292712;23830146;25174867;25174867). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.58 | TTC7A | Eleanor Williams Classified gene: TTC7A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.58 | TTC7A | Eleanor Williams Added comment: Comment on list classification: Rated gene Amber as is on expert list. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.58 | TTC7A | Eleanor Williams Gene: ttc7a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.57 | TTC7A | Eleanor Williams commented on gene: TTC7A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.48 | TTC7A | Eleanor Williams Added phenotypes anorectal malformation for gene: TTC7A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-syndromic familial congenital anorectal malformations v0.47 | TTC7A |
Eleanor Williams gene: TTC7A was added gene: TTC7A was added to Non-syndromic familial congenital anorectal malformations. Sources: Expert list Mode of inheritance for gene: TTC7A was set to Phenotypes for gene: TTC7A were set to anorectal malformation |