WDR1

WD repeat domain 1
OMIM: 604734, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Red WDR1 in Vasculitis Level 2: Immunological disorders Version 0.86	1 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 1.2302	1 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 1.33 Component of the following Super Panels: Immunological disorders_SuperPanel	1 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 Autoinflammatory Disorders Level 2: Immunological disorders Version 2.3 Component of the following Super Panels: Immunological disorders_SuperPanel	1 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 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Periodic fever, immunodeficiency, and thrombocytopenia syndrome MIM#150550 Tags treatable immunological haematological