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Newborns main panel

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
clinical validity 1 case PMID: 32960541 3 families PMID: 29751004 3 families PMID: 27557945 1 family PMID: 27994071
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Periodic fever, immunodeficiency, and thrombocytopenia syndrome
OMIM
604734
Clinvar variants
Variants in WDR1
Penetrance
None
Panels with this gene

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to WDR1. Added phenotypes Periodic fever, immunodeficiency, and thrombocytopenia syndrome for gene: WDR1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to WDR1. Added phenotypes Periodic fever, immunodeficiency, and thrombocytopenia syndrome for gene: WDR1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to WDR1. Added phenotypes Periodic fever, immunodeficiency, and thrombocytopenia syndrome for gene: WDR1 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

15 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to WDR1. Added phenotypes Periodic fever, immunodeficiency, and thrombocytopenia syndrome for gene: WDR1 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to WDR1. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Periodic fever, immunodeficiency, and thrombocytopenia syndrome for gene: WDR1

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: WDR1 was added gene: WDR1 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: WDR1 was set to BIALLELIC, autosomal or pseudoautosomal