Activity
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9 actions
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| Infantile enterocolitis & monogenic inflammatory bowel disease v1.42 | PTEN | Sarah Leigh edited their review of gene: PTEN: Added comment: Based on the review from Zornitza Stark, this gene has been demoted to amber on this panel.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile enterocolitis & monogenic inflammatory bowel disease v1.42 | PTEN | Sarah Leigh Classified gene: PTEN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile enterocolitis & monogenic inflammatory bowel disease v1.42 | PTEN | Sarah Leigh Gene: pten has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile enterocolitis & monogenic inflammatory bowel disease v1.41 | PTEN | Sarah Leigh Publications for gene: PTEN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile enterocolitis & monogenic inflammatory bowel disease v1.16 | PTEN | Zornitza Stark changed review comment from: GI polyps and diverticula are a feature of Cowden syndrome. The link between variants in PTEN and monogenic IBD appears based largely on experimental/mouse model evidence. There is a series of 34 individuals with PTEN variants and a range of autoimmune phenotypes reported in 22266152, including colitis. Considering PTEN-related conditions are relatively common as are auto-immune disorders, I am not convinced this is enough for causality.; to: GI polyps and diverticula are a feature of Cowden syndrome. The link between variants in PTEN and monogenic IBD appears based largely on experimental/mouse model evidence. There is a series of 34 individuals with PTEN variants and a range of autoimmune phenotypes reported in 22266152, including colitis. Considering PTEN-related conditions are relatively common as are auto-immune disorders, I am not convinced this is enough for causality. I also note this gene is Amber on the PID panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile enterocolitis & monogenic inflammatory bowel disease v1.16 | PTEN | Zornitza Stark reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: None; Publications: 23962154, 24882466, 25352295, 22266152; Phenotypes: Colitis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile enterocolitis & monogenic inflammatory bowel disease | PTEN | Neil shah reviewed PTEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile enterocolitis & monogenic inflammatory bowel disease | PTEN | Sarah Leigh edited their review of PTEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infantile enterocolitis & monogenic inflammatory bowel disease | PTEN | Sarah Leigh commented on PTEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||