Genomics England
GMS Panels
Panels
Genes and Entities

WDR72

WD repeat domain 72
OMIM: 613214
PanelMode of inheritanceDetails
2 panels
Green
in Amelogenesis imperfecta
R-numbers: R340
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Amelogenesis imperfecta, type IIA3, 613211, Amelogenesis Imperfecta, Type IIA3, 613211, Amelogenesis Imperfecta, Recessive, Hypomaturation AI
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
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