EDNRB

endothelin receptor type B
OMIM: 131244
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
ABCD SYNDROME, OMIM:600501
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ABCD SYNDROME
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R67
Signed-off version 4.42
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
#277580:Waardenburg syndrome, type 4A, #600155:{Hirschsprung disease, susceptibility to, 2}, #600501:ABCD 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 4A, OMIM:277580, {Hirschsprung disease, susceptibility to, 2}, OMIM:600155, ?ABCD syndrome, OMIM:600501
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
WS4A, Waardenburg syndrome, WAARDENBURG SYNDROME, TYPE 4A