EDNRA

endothelin receptor type A
OMIM: 131243, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green EDNRA in Mandibulofacial Acrofacial dysostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.9

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mandibulofacial dysostosis with alopecia, MIM# 616367

Green EDNRA in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mandibulofacial dysostosis with alopecia, MIM# 616367

Green EDNRA in Pierre Robin Sequence


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.47

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mandibulofacial dysostosis with alopecia, MIM# 616367

Green EDNRA in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.252

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
  • MFDA
  • Cleft palate

Green EDNRA in Fetal anomalies


Version 1.255

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Mandibulofacial dysostosis with alopecia, MIM# 616367