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  3. WDR1
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Phagocyte Defects

Gene: WDR1

Green List (high evidence)
WDR1 (WD repeat domain 1)
EnsemblGeneIds (GRCh38): ENSG00000071127
EnsemblGeneIds (GRCh37): ENSG00000071127
OMIM: 604734, Gene2Phenotype
WDR1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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.
Sources: Expert list
Created: 5 Apr 2020, 5:34 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550

Publications

Created: 5 Apr 2020, 5:34 a.m.

Panel version: 0.38

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550
  • Neutropaenia
  • Poor wound healing
  • Severe stomatitis
  • Neutrophil nuclei herniate
  • Autoinflammatory periodic fever
  • Thrombocytopaenia
OMIM
604734
Clinvar variants
Variants in WDR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WDR1 were changed from Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia to Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550; Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia

12 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WDR1 were changed from Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate to Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia

5 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WDR1 were changed from Neutrpaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate to Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WDR1 were changed from to Neutrpaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate

5 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Apr 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WDR1 was added gene: WDR1 was added to Phagocyte Defects. Sources: Expert list Mode of inheritance for gene: WDR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR1 were set to 27994071; 27557945; 29751004 Review for gene: WDR1 was set to GREEN