Primary immunodeficiency or monogenic inflammatory bowel disease
Gene: WDR1The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 4 Mar 2022, 10:17 a.m. | Last Modified: 4 Mar 2022, 10:17 a.m.
Panel Version: 2.529
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).Created: 20 Oct 2020, 3:47 p.m. | Last Modified: 20 Oct 2020, 3:47 p.m.
Panel Version: 2.365
Comment on list classification: Promoted from Amber to Green based on expert review.Created: 15 Apr 2020, 2:34 p.m. | Last Modified: 15 Apr 2020, 2:34 p.m.
Panel Version: 2.67
Seven families reported with immunological phenotypes and bi-allelic variants in this gene, three of these had a predominantly phagocyte/neutrophil defects.Created: 12 Apr 2020, 4:34 a.m. | Last Modified: 12 Apr 2020, 4:34 a.m.
Panel Version: 2.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia; Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate
Publications
Variants in this GENE are reported as part of current diagnostic practice
Agree with amber ratingCreated: 23 Oct 2019, 7:01 a.m. | Last Modified: 23 Oct 2019, 7:01 a.m.
Panel Version: 1.132
agree with all the Amber genesCreated: 25 Sep 2019, 1:49 p.m. | Last Modified: 25 Sep 2019, 1:49 p.m.
Panel Version: 1.115
The amber genes are covered on our targeted exome, we feel that these should be covered in the testingCreated: 25 Sep 2019, 1:44 p.m. | Last Modified: 25 Sep 2019, 1:44 p.m.
Panel Version: 1.114
Autoinflammatory periodic fever, immunodeficiency and thrombocytopaenia - sibling pair and mouse model - ?sufficient for greenCreated: 26 Sep 2019, 4 p.m. | Last Modified: 26 Sep 2019, 4 p.m.
Panel Version: 1.130
Comment on list classification: Changed rating from Red to Amber to reflect the agreed rating agreed by the GMS Immunology Specialist Test GroupCreated: 26 Sep 2019, 11 a.m. | Last Modified: 26 Sep 2019, 11 a.m.
Panel Version: 1.126
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.Created: 25 Sep 2019, 3 p.m. | Last Modified: 25 Sep 2019, 3 p.m.
Panel Version: 1.116
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 AmberCreated: 25 Sep 2019, 3 p.m. | Last Modified: 25 Sep 2019, 3 p.m.
Panel Version: 1.116
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.Created: 12 Sep 2019, 3:55 p.m. | Last Modified: 12 Sep 2019, 3:55 p.m.
Panel Version: 1.56
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): WDR1 .PanelApp HGNC gene symbol check: WDR1 . IUIS Disease: WDR1 deficiency . IUIS Inheritance: AR , .B cells: N/A, .IUIS Other affected cells: N. IUIS Associated features: Mild neutropenia, poor wound healing, severe stomatitis, neutrophil nuclei herniate. IUIS Major category: Congenital defects of phagocyte number or function. IUIS Subcategory: Defects of MotilityCreated: 6 Jul 2018, 12:22 p.m.
Tag for-review was removed from gene: WDR1.
Source Expert Review Green was added to WDR1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: wdr1 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: WDR1.
Gene: wdr1 has been classified as Green List (High Evidence).
Publications for gene: WDR1 were set to 32048120; 27557945; 32086639
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
Gene: wdr1 has been classified as Amber List (Moderate Evidence).
Source North West GLH was added to WDR1.
Source London North GLH was added to WDR1.
Source NHS GMS was added to WDR1.
Publications for gene: WDR1 were set to
Mode of inheritance for gene: WDR1 was changed from to BIALLELIC, autosomal or pseudoautosomal
2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.
Phenotypes for gene WDR1 were set to Mild neutropenia, poor wound healing, severe stomatitis, neutrophil nuclei herniate, Congenital defects of phagocyte number or function
WDR1 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018
WDR1 was created by Louise Daugherty