Primary immunodeficiency or monogenic inflammatory bowel disease

Gene: WDR1

The 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

Green List (high evidence)

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

• 27994071
• 27557945
• 29751004

Variants in this GENE are reported as part of current diagnostic practice

I don't know

Agree with amber rating

Created: 23 Oct 2019, 7:01 a.m. | Last Modified: 23 Oct 2019, 7:01 a.m.

Panel Version: 1.132

I don't know

agree with all the Amber genes

Created: 25 Sep 2019, 1:49 p.m. | Last Modified: 25 Sep 2019, 1:49 p.m.

Panel Version: 1.115

I don't know

The amber genes are covered on our targeted exome, we feel that these should be covered in the testing

Created: 25 Sep 2019, 1:44 p.m. | Last Modified: 25 Sep 2019, 1:44 p.m.

Panel Version: 1.114

I don't know

Autoinflammatory periodic fever, immunodeficiency and thrombocytopaenia - sibling pair and mouse model - ?sufficient for green

Created: 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 Group

Created: 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 Amber

Created: 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 Motility

Created: 6 Jul 2018, 12:22 p.m.