WDR1

WD repeat domain 1
OMIM: 604734, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Red WDR1 in Vasculitis Level 2: Immunological disorders Version 0.82	review	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
Green WDR1 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green 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
Green WDR1 in Phagocyte Defects Level 2: Immunological disorders Version 1.29 Component of the following Super Panels: Immunological disorders_SuperPanel	review	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
Green WDR1 in Systemic Autoinflammatory Disease_Periodic Fever Level 2: Immunological disorders Version 1.47 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Periodic fever, immunodeficiency, and thrombocytopenia syndrome, MIM#150550
Green WDR1 in BabyScreen+ newborn screening Level 2: Screening Version 1.114	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Periodic fever, immunodeficiency, and thrombocytopenia syndrome MIM#150550 Tags treatable immunological haematological