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Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 POLE Arina Puzriakova Tag for-review was removed from gene: POLE.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 POLE Arina Puzriakova commented on gene: POLE: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 POLE Arina Puzriakova Source Expert Review Green was added to POLE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.347 POLE Arina Puzriakova Classified gene: POLE as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.347 POLE Arina Puzriakova Added comment: Comment on list classification: Changed rating from Green to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update (added 'for-review' tag).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.347 POLE Arina Puzriakova Gene: pole has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.346 POLE Arina Puzriakova Tag for-review tag was added to gene: POLE.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.134 POLE Rebecca Foulger changed review comment from: PMID:23230001: 1 large consanguineous family with FILS syndrome (including immunodeficiency) and homozygous single bp substitution in POLE1.; to: PMID:23230001: 1 large consanguineous family with FILS syndrome (all but 2 patients suffered from immunodeficiency) and homozygous single bp substitution in POLE1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.134 POLE Rebecca Foulger Classified gene: POLE as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.134 POLE Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following review by Zornitza Stark: >3 cases from 3 separate papers of individuals with biallelic POLE variants and a phenotype that includes immunodeficiency.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.134 POLE Rebecca Foulger Gene: pole has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.133 POLE Rebecca Foulger commented on gene: POLE: PMID:23230001: 1 large consanguineous family with FILS syndrome (including immunodeficiency) and homozygous single bp substitution in POLE1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.133 POLE Rebecca Foulger commented on gene: POLE: PMID:25948378 (Thiffault et al., 2015) report a girl with immune deficiency amongst her phenotypes. She was homozygous for a splice variant in POLE1 (c.4444 + 3A > G).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.133 POLE Rebecca Foulger commented on gene: POLE
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 POLE Zornitza Stark reviewed gene: POLE: Rating: GREEN; Mode of pathogenicity: None; Publications: 30503519, 23230001, 25948378; Phenotypes: FILS syndrome, MIM# 615139, IMAGE-I syndrome, MIM# 618336; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 POLE2 Louise Daugherty Source IUIS Classification December 2019 was added to POLE2.
Added phenotypes Recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes, hypothyroidism, facial dysmorphism); Combined immunodeficiencies with associated or syndromic features for gene: POLE2
Publications for gene POLE2 were updated from to 32048120; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease POLE2 Louise Daugherty marked gene: POLE2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease POLE2 Eleanor Williams commented on gene: POLE2
Primary immunodeficiency or monogenic inflammatory bowel disease POLE Louise Daugherty marked gene: POLE as ready
Primary immunodeficiency or monogenic inflammatory bowel disease POLE Louise Daugherty commented on gene: POLE
Primary immunodeficiency or monogenic inflammatory bowel disease POLE2 Louise Daugherty reviewed gene: POLE2
Primary immunodeficiency or monogenic inflammatory bowel disease POLE Louise Daugherty commented on gene: POLE
Primary immunodeficiency or monogenic inflammatory bowel disease POLE2 Sophie Hambleton reviewed gene: POLE2
Primary immunodeficiency or monogenic inflammatory bowel disease POLE Sophie Hambleton reviewed gene: POLE
Primary immunodeficiency or monogenic inflammatory bowel disease POLE Sarah Leigh classified POLE as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease POLE Louise Daugherty commented on POLE
Primary immunodeficiency or monogenic inflammatory bowel disease POLE Louise Daugherty commented on POLE
Primary immunodeficiency or monogenic inflammatory bowel disease POLE Louise Daugherty commented on POLE
Primary immunodeficiency or monogenic inflammatory bowel disease POLE Louise Daugherty reviewed POLE
Primary immunodeficiency or monogenic inflammatory bowel disease POLE Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease POLE Louise Daugherty Added gene to panel