EDNRB

endothelin receptor type B
OMIM: 131244, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green EDNRB in Familial Hirschsprung Disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.11	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Alder Hey - Erasmus MC Phenotypes Waardenburg syndrome, type 4A, OMIM:277580 {Hirschsprung disease, susceptibility to, 2}, OMIM:600155 ?ABCD syndrome, OMIM:600501 Colonic aganglionosis Shah-Waardenburg syndrome Long-segment Hirschsprung's disease Short-segment Hirschsprung's disease Tags monogenic-polygenic
Green EDNRB in Pigmentary skin disorders Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes WS4A Waardenburg syndrome WAARDENBURG SYNDROME, TYPE 4A
Red EDNRB in Non-syndromic familial congenital anorectal malformations Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.14	review	Not set	Sources Literature Phenotypes anorectal malformation
Green EDNRB in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS PAGE DD-Gene2Phenotype Expert Review Green Phenotypes ABCD SYNDROME
Red EDNRB in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 6.3 Latest signed off version: v6.0 (30 Apr 2025)	review	Not set	Sources NHS GMS Phenotypes Waardenburg syndrome ABCD syndrome Hirschprung disease
Green EDNRB in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ABCD SYNDROME, OMIM:600501
Green EDNRB in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen UKGTN Phenotypes #277580:Waardenburg syndrome, type 4A #600155:{Hirschsprung disease, susceptibility to, 2} #600501:ABCD syndrome
Red EDNRB in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes ABCD syndrome, 600501 ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF THE GUT, AND DEAFNESS
Green EDNRB in Paediatric pseudo-obstruction syndrome Level 2: Gastrohepatology Version 2.5 Latest signed off version: v2.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Waardenburg syndrome, type 4A, OMIM:277580 {Hirschsprung disease, susceptibility to, 2}, OMIM:600155 ?ABCD syndrome, OMIM:600501 Tags monogenic-polygenic