Genomics England

endothelin receptor type B

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes ABCD SYNDROME, OMIM:600501
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes ABCD SYNDROME
Green in Monogenic hearing loss Component of the following Super Panels: - Paediatric disorders R-numbers: R67 Signed-off version 4.57	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
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 4A, OMIM:277580, {Hirschsprung disease, susceptibility to, 2}, OMIM:600155, ?ABCD syndrome, OMIM:600501
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 WS4A, Waardenburg syndrome, WAARDENBURG SYNDROME, TYPE 4A