WDR72

WD repeat domain 72
OMIM: 613214, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green WDR72 in Nephrocalcinosis or nephrolithiasis


Level 2: Renal
Version 5.5
Latest signed off version: v5.0 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • distal renal tubular acidosis, MONDO:0015827
    • Amelogenesis imperfecta, type IIA3, OMIM:613211
    • amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181
    Green WDR72 in Amelogenesis imperfecta


    Level 2: Musculoskeletal
    Version 4.30
    Latest signed off version: v4.0 (30 Apr 2025)

    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
    Green WDR72 in Renal tubulopathies


    Level 2: Renal
    Version 5.11
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • distal RTA
    • hereditary distal renal tubular acidosis
    • distal renal tubular acidosis, MONDO:0015827
    • Amelogenesis imperfecta, type IIA3, OMIM:613211
    • amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181
    Green WDR72 in Unexplained young onset end-stage renal disease - additional genes


    Level 2: Renal
    Version 1.4
    Latest signed off version: v1.1 (30 Apr 2025)

    Component of the following Super Panels:

  • Unexplained young onset end-stage renal disease
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • distal renal tubular acidosis, MONDO:0015827
    • Amelogenesis imperfecta, type IIA3, OMIM:613211
    • amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181