EDNRB

endothelin receptor type B
OMIM: 131244, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green EDNRB in Familial Hirschsprung Disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.10	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 Version 3.12 Latest signed off version: v3.0 (22 Mar 2023)	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 1.9	review	Not set	Sources Literature Phenotypes anorectal malformation
Green EDNRB in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	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 3: Craniosynostosis syndromes Level 2: Skeletal disorders Version 4.180 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources NHS GMS Phenotypes Waardenburg syndrome ABCD syndrome Hirschprung disease
Green EDNRB in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes ABCD SYNDROME, OMIM:600501
Green EDNRB in Monogenic hearing loss Level 3: Non-syndromic hearing loss Level 2: Hearing and ear disorders Version 4.38 Latest signed off version: v4.0 (22 Mar 2023) 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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) 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 Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Waardenburg syndrome, type 4A, 277580 ABCD syndrome, 600501
Green EDNRB in Paediatric pseudo-obstruction syndrome Version 1.5 Latest signed off version: v1.0 (22 Mar 2023)	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