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Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 WDR1 Arina Puzriakova Tag for-review was removed from gene: WDR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 WDR1 Arina Puzriakova commented on gene: WDR1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 WDR1 Arina Puzriakova Source Expert Review Green was added to WDR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.365 WDR1 Arina Puzriakova Classified gene: WDR1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.365 WDR1 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 v2.365 WDR1 Arina Puzriakova Gene: wdr1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.364 WDR1 Arina Puzriakova Tag for-review tag was added to gene: WDR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.67 WDR1 Ivone Leong Classified gene: WDR1 as Green List (high evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.67 WDR1 Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green based on expert review.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.67 WDR1 Ivone Leong Gene: wdr1 has been classified as Green List (High Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.66 WDR1 Ivone Leong Publications for gene: WDR1 were set to 32048120; 27557945; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 WDR1 Zornitza Stark edited their review of gene: WDR1: Changed phenotypes: Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia, Neutropaenia, Poor wound healing, Severe stomatitis, Neutrophil nuclei herniate
Primary immunodeficiency or monogenic inflammatory bowel disease v2.51 WDR1 Zornitza Stark reviewed gene: WDR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27994071, 27557945, 29751004; Phenotypes: Autoinflammatory periodic fever, neutrophil dysfunction, immunodeficiency, and thrombocytopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Primary immunodeficiency or monogenic inflammatory bowel disease v2.34 WDR1 Louise Daugherty Source IUIS Classification December 2019 was added to WDR1.
Added phenotypes Mild neutropenia, poor wound healing, severe stomatitis, neutrophil nuclei herniate; Congenital defects of phagocyte number or function for gene: WDR1
Publications for gene WDR1 were updated from 27557945 to 32048120; 27557945; 32086639
Primary immunodeficiency or monogenic inflammatory bowel disease v1.132 WDR1 Sophie Hambleton reviewed gene: WDR1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Primary immunodeficiency or monogenic inflammatory bowel disease v1.130 WDR1 Louise Daugherty commented on gene: WDR1: Autoinflammatory periodic fever, immunodeficiency and thrombocytopaenia - sibling pair and mouse model - ?sufficient for green
Primary immunodeficiency or monogenic inflammatory bowel disease v1.126 WDR1 Louise Daugherty Classified gene: WDR1 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v1.126 WDR1 Louise Daugherty Added comment: Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test Group
Primary immunodeficiency or monogenic inflammatory bowel disease v1.126 WDR1 Louise Daugherty Gene: wdr1 has been classified as Amber List (Moderate Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v1.116 WDR1 Louise Daugherty commented on gene: WDR1: 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 WDR1 Louise Daugherty edited their review of gene: WDR1: 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 WDR1 Kimberly Gilmour reviewed gene: WDR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.114 WDR1 Tracy Briggs reviewed gene: WDR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Primary immunodeficiency or monogenic inflammatory bowel disease v1.63 WDR1 Louise Daugherty Source North West GLH was added to WDR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.62 WDR1 Louise Daugherty Source London North GLH was added to WDR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.61 WDR1 Louise Daugherty Source NHS GMS was added to WDR1.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.56 WDR1 Louise Daugherty Added comment: Comment on publications: Added PMID: 27557945 Kuhns, D et al Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency BLOOD 2019, 2135-2143 suggested by Kimberly Gilmour (LNGLH) on behalf of the Specialist Test Group to support inclusion of this gene on the panel and a Amber rating.
Primary immunodeficiency or monogenic inflammatory bowel disease v1.56 WDR1 Louise Daugherty Publications for gene: WDR1 were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v1.35 WDR1 Louise Daugherty Mode of inheritance for gene: WDR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease WDR1 Louise Daugherty commented on gene: WDR1
Primary immunodeficiency or monogenic inflammatory bowel disease WDR1 Louise Daugherty reviewed gene: WDR1
Primary immunodeficiency or monogenic inflammatory bowel disease WDR1 Louise Daugherty Added gene to panel