Genomics England
GMS Panels
Panels
Genes and Entities

WDR72

WD repeat domain 72
OMIM: 613214
PanelMode of inheritanceDetails
4 panels
Green
in Amelogenesis imperfecta
R-numbers: R340
Signed-off version 4.37
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Amelogenesis imperfecta, type IIA3, 613211, Amelogenesis Imperfecta, Type IIA3, 613211, Amelogenesis Imperfecta, Recessive, Hypomaturation AI
Green
in Nephrocalcinosis or nephrolithiasis
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R256
Signed-off version 6.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
distal renal tubular acidosis, MONDO:0015827, Amelogenesis imperfecta, type IIA3, OMIM:613211, amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181
Green
in Renal tubulopathies
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
R-numbers: R198
Signed-off version 6.9
BIALLELIC, autosomal or pseudoautosomal
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
in Unexplained young onset end-stage renal disease - additional genes
Component of the following Super Panels:
  • - Unexplained young onset end-stage renal disease
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
distal renal tubular acidosis, MONDO:0015827, Amelogenesis imperfecta, type IIA3, OMIM:613211, amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181