Vasculitis

Gene: WDR1

Red List (low 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)

Red List (low evidence)

Recurrent infections, stomatitis and periodic fever, rather than vasculitis.
Created: 31 Jul 2020, 1:41 a.m. | Last Modified: 31 Jul 2020, 1:41 a.m.
Panel Version: 0.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550; Neutropaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate; Autoinflammatory periodic fever; Thrombocytopaenia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
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: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wdr1 has been classified as Red List (Low Evidence).

31 Jul 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Jul 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: WDR1 were set to

31 Jul 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Jul 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wdr1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WDR1 was added gene: WDR1 was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: WDR1 was set to Unknown