WDR72

Amber WDR72 in Nephrocalcinosis or nephrolithiasis

Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.13
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Amber
• Expert list

Phenotypes

• distal renal tubular acidosis, MONDO:0015827
• Amelogenesis imperfecta, type IIA3, OMIM:613211
• amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181

Tags

• Q1_23_promote_green
• Q1_23_NHS_review

Amber WDR72 in Unexplained young onset end-stage renal disease

Version 3.40
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Amber
• Expert Review

Phenotypes

• hereditary distal renal tubular acidosis
• distal renal tubular acidosis, MONDO:0015827
• Amelogenesis imperfecta, type IIA3, OMIM:613211
• amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181

Tags

• Q4_23_promote_green

Green WDR72 in Amelogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 3.3
Latest signed off version: v3.0 (22 Mar 2023)

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 4.17
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Amber
• 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

Tags

• Q1_23_promote_green