Genomics England
GMS Panels
Panels
Genes and Entities

EDN3

endothelin 3
OMIM: 131242
PanelMode of inheritanceDetails
3 panels
Green
in Monogenic hearing loss
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.51
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Waardenburg syndrome, type 4B, 613265, Central hypoventilation syndrome, congenital, 209880, {Hirschsprung disease, susceptibility to}, 613712
Green
in Paediatric pseudo-obstruction syndrome
R-numbers: R438
Signed-off version 1.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Waardenburg syndrome, type 4B, OMIM:613265, {Hirschsprung disease, susceptibility to, 4}, OMIM:613712
Green
in Pigmentary skin disorders
R-numbers: R236
Signed-off version 3.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
WAARDENBURG SYNDROME, TYPE 4B, WS4B, Waardenburg syndrome