WDR72

WD repeat domain 72
OMIM: 613214, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Green WDR72 in Amelogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.5
Signed off v.2.2 on 13 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Amelogenesis imperfecta, type IIA3, 613211
  • Amelogenesis Imperfecta, Type IIA3, 613211
  • Amelogenesis Imperfecta, Recessive
  • Hypomaturation AI

Amber WDR72 in Renal tubulopathies

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 2.13
Signed off v.2.2 on 19 Feb 2020

Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • distal RTA
    • hereditary distal renal tubular acidosis