Vasculitis
Gene: WDR1
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
Gene: wdr1 has been classified as Red List (Low Evidence).
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
Publications for gene: WDR1 were set to
Mode of inheritance for gene: WDR1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: wdr1 has been classified as Red List (Low Evidence).
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