Activity

Filter

Cancel
Date Panel Item Activity
11 actions
Phagocyte Defects v0.39 WDR1 Zornitza Stark 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
Phagocyte Defects v0.38 WDR1 Zornitza Stark edited their review of gene: WDR1: Changed phenotypes: Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550
Phagocyte Defects v0.37 WDR1 Zornitza Stark 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
Phagocyte Defects v0.36 WDR1 Zornitza Stark edited their review of gene: WDR1: Changed phenotypes: Autoinflammatory periodic fever, neutrophil dysfunction, immunodeficiency, and thrombocytopenia
Phagocyte Defects v0.23 WDR1 Zornitza Stark 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
Phagocyte Defects v0.22 WDR1 Zornitza Stark Marked gene: WDR1 as ready
Phagocyte Defects v0.22 WDR1 Zornitza Stark Gene: wdr1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.22 WDR1 Zornitza Stark Phenotypes for gene: WDR1 were changed from to Neutrpaenia; Poor wound healing; Severe stomatitis; Neutrophil nuclei herniate
Phagocyte Defects v0.21 WDR1 Zornitza Stark Classified gene: WDR1 as Green List (high evidence)
Phagocyte Defects v0.21 WDR1 Zornitza Stark Gene: wdr1 has been classified as Green List (High Evidence).
Phagocyte Defects v0.20 WDR1 Zornitza Stark 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
Added comment: 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