PanelApp (test)
  1. Genes and Genomic Entities
  2. WDR1:Ensemblv115

WDR1:Ensemblv115

WD repeat domain 1
OMIM: 604734, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Red WDR1 in Vasculitis


Level 2: Immunological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
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

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
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 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
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 list
  • Expert Review Green
Phenotypes
  • Periodic fever, immunodeficiency, and thrombocytopenia syndrome MIM#150550
Tags
  • treatable
  • immunological
  • haematological