EDNRA

endothelin receptor type A
OMIM: 131243, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green EDNRA in Deafness and congenital structural abnormalities

Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.37

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert Review
Phenotypes
  • Mandibulofacial dysostosis with alopecia, 616367
  • mandibulofacial dysostosis
  • alopecia
  • bilateral microtia
Tags
  • mosaicism
Green EDNRA in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
Green EDNRA in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA 616367
    Green EDNRA in Clefting


    Level 2: Musculoskeletal
    Version 6.20
    Latest signed off version: v6.5 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
    • MFDA
    • Cleft palate
    Red EDNRA 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, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Migraine, resistance to, 157300