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Primary immunodeficiency or monogenic inflammatory bowel disease v2.193 | PTEN | Arina Puzriakova reviewed gene: PTEN: Rating: ; Mode of pathogenicity: None; Publications: 32588888; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 | PTEN |
Louise Daugherty Source IUIS Classification December 2019 was added to PTEN. Added phenotypes Recurrent infections, Lymphoproliferation, Autoimmunity; developmental delay; Predominantly Antibody Deficiencies for gene: PTEN Publications for gene PTEN were updated from 27426521 to 32048120; 27426521; 32086639 |
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Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 | PTEN | Sophie Hambleton reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 | PTEN | Louise Daugherty commented on gene: PTEN: Cowden (macrocephaly, variable GDD, skin features, malignancy risk) - some patients reported to have primary immunodef / hypogammaglob. / lymphopaenia / T&B cell abn. / susceptibility to infections). Green association - relevant phenotype? | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 | PTEN | Louise Daugherty commented on gene: PTEN: Gene rating submitted by Tracy Briggs, David Gokhale and Abigal Rousseau on behalf of North West GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email on 20th June the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 | PTEN | Louise Daugherty edited their review of gene: PTEN: Added comment: Gene rating submitted by Kimberly Gilmour and Austen Worth on behalf of London North GLH for the GMS Immunology specialist test group. As discussed with the GMS Immunology Specialist Test Group during webex call 28th March 2019 and confirmed in follow up email 6th September the Specialist Test Group all agreed there is only enough evidence to rate this gene Amber; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.115 | PTEN | Kimberly Gilmour reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.114 | PTEN | Tracy Briggs reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 | PTEN | Louise Daugherty Source North West GLH was added to PTEN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 | PTEN | Louise Daugherty Source London North GLH was added to PTEN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 | PTEN | Louise Daugherty Source NHS GMS was added to PTEN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.51 | PTEN | Louise Daugherty changed review comment from: Comment on list classification: Changed from Red to Amber. As discussed with the GMS Neurology Specialist Test Group webex call 28th March 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber- publication evidence supplied by expert; to: Comment on list classification: Changed from Red to Amber. As discussed with the GMS Immunology Specialist Test Group webex call 28th March 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber- publication evidence supplied by expert | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.43 | PTEN | Louise Daugherty Classified gene: PTEN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.43 | PTEN | Louise Daugherty Added comment: Comment on list classification: Changed from Red to Amber. As discussed with the GMS Neurology Specialist Test Group webex call 28th March 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber- publication evidence supplied by expert | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.43 | PTEN | Louise Daugherty Gene: pten has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.37 | PTEN | Louise Daugherty Mode of inheritance for gene: PTEN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.32 | PTEN | Louise Daugherty Added comment: Comment on publications: publication added to support upgrading gene- suggested by Sophie Hambleton in the GMS Immunological Specialist Test Group webex call 28th March 2019 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v1.32 | PTEN | Louise Daugherty Publications for gene: PTEN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | PTEN | Louise Daugherty commented on gene: PTEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | PTEN | Louise Daugherty reviewed gene: PTEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease | PTEN | Louise Daugherty Added gene to panel |