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 2.0

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 1.193

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • distal RTA
  • hereditary distal renal tubular acidosis