WDR72:Ensemblv115

WD repeat domain 72
OMIM: 613214, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green WDR72 in Amelogenesis imperfecta


Level 2: Skeletal disorders
Version 2.0

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

Green WDR72 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
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 2.0

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