WDR72

WD repeat domain 72
OMIM: 613214, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green WDR72 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Amelogenesis imperfecta, type IIA3, MIM# 613211

Green WDR72 in Amelogenesis imperfecta


Level 2: Skeletal disorders
Version 1.10

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IIA3, MIM# 613211

Green WDR72 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.113

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Amelogenesis imperfecta, type IIA3, MIM# 613211
  • Distal RTA MONDO:0015827
Tags
  • treatable
  • renal

Green WDR72 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 1.14

Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Amelogenesis imperfecta, type IIA3, MIM# 613211
    • Distal RTA