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Primary immunodeficiency

Gene: WDR1

Amber List (moderate evidence)

WDR1 (WD repeat domain 1)
EnsemblGeneIds (GRCh38): ENSG00000071127
EnsemblGeneIds (GRCh37): ENSG00000071127
OMIM: 604734, Gene2Phenotype
WDR1 is in 2 panels

7 reviews

Arina Puzriakova (Genomics England Curator)

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

Ivone Leong (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

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

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

Sophie Hambleton (Newcastle University)

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

Kimberly Gilmour (Great Ormond Street Hopsital)

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

Tracy Briggs (Manchester Genomic Medicine Centre)

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

Louise Daugherty (Genomics England Curator)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • IUIS Classification December 2019
  • North West GLH
  • London North GLH
  • NHS GMS
  • IUIS Classification February 2018
Phenotypes
  • Mild neutropenia, poor wound healing, severe stomatitis, neutrophil nuclei herniate
  • Congenital defects of phagocyte number or function
Tags
for-review
OMIM
604734
Clinvar variants
Variants in WDR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: wdr1 has been classified as Amber List (Moderate Evidence).

20 Oct 2020, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review tag was added to gene: WDR1.

15 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: wdr1 has been classified as Green List (High Evidence).

15 Apr 2020, Gel status: 2

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: WDR1 were set to 32048120; 27557945; 32086639

28 Feb 2020, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

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

26 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: wdr1 has been classified as Amber List (Moderate Evidence).

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source North West GLH was added to WDR1.

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to WDR1.

17 Sep 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to WDR1.

12 Sep 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: WDR1 were set to

29 Mar 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: WDR1 was changed from to BIALLELIC, autosomal or pseudoautosomal

12 Jul 2018, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

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.

1 Jul 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene WDR1 were set to Mild neutropenia, poor wound healing, severe stomatitis, neutrophil nuclei herniate, Congenital defects of phagocyte number or function

26 Jun 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

WDR1 was added to Primary immunodeficiency disorders panel. Sources: IUIS Classification February 2018

26 Jun 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

WDR1 was created by Louise Daugherty