EDNRA

endothelin receptor type A
OMIM: 131243, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green EDNRA in Mandibulofacial Acrofacial dysostosis


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.9

1 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 2.588

1 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 1.5

1 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 Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.151

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • 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 1.25

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

Green EDNRA in Fetal anomalies


Version 2.81

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