EDNRB

endothelin receptor type B
OMIM: 131244, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
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 4.3
Latest signed off version: v4.0 (1 May 2024)

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 5.1
Latest signed off version: v5.0 (1 May 2024)

review Not set
Sources
  • NHS GMS
Phenotypes
  • Waardenburg syndrome
  • ABCD syndrome
  • Hirschprung disease
Green EDNRB in DDG2P


Version 4.5
Latest signed off version: v4.0 (1 May 2024)

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 4.41
    Latest signed off version: v4.39 (1 May 2024)

    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 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.26
    Latest signed off version: v6.0 (1 May 2024)

    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