EDNRA

endothelin receptor type A
OMIM: 131243, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green EDNRA in Deafness and congenital structural abnormalities

Level 3: Deafness and congenital structural abnormalities
Level 2: Hearing and ear disorders
Version 1.17

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


Version 1.74
Signed off v.1.2 on 17 Feb 2020

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 2.9
Signed off v.2.2 on 13 Feb 2020

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 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.3
    Signed off v.2.2 on 4 Mar 2020

    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

    Amber EDNRA in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.249
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Migraine, resistance to, 157300

    Green EDNRA in Severe Paediatric Disorders


    Version 1.10

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Mandibulofacial dysostosis with alopecia, 616367