Genomics England

WDR72

WD repeat domain 72

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Amelogenesis imperfecta R-numbers: R340 Signed-off version 3.11	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 4.19	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 4.21	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 1.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes distal renal tubular acidosis, MONDO:0015827, Amelogenesis imperfecta, type IIA3, OMIM:613211, amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181