PanelApp
  1. Genes and Genomic Entities
  2. WDR1

WDR1

WD repeat domain 1
OMIM: 604734, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green WDR1 in Mendeliome


Version 2.22

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 2.0

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 3.1

    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 Genomic newborn screening: BabyScreen+


    Level 2: Screening
    Version 2.0

    		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