EDN1:Ensemblv90

endothelin 1
OMIM: 131240, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Amber EDN1 in Mandibulofacial Acrofacial dysostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Auriculocondylar syndrome 3, MIM# 615706
Amber EDN1 in Mendeliome Version 1.3802	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Auriculocondylar syndrome 3, MIM# 615706
Amber EDN1 in Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 0.57	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Auriculocondylar syndrome 3, MIM# 615706
Amber EDN1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.293	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Auriculocondylar syndrome 3, MIM# 615706 Cleft palate
Amber EDN1 in Fetal anomalies Version 1.482	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Phenotypes Auriculocondylar syndrome 3, MIM# 615706
Amber EDN1 in Mandibulofacial Acrofacial dysostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Phenotypes Auriculocondylar syndrome 3, MIM# 615706
Amber EDN1 in Pierre Robin Sequence Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Amber Phenotypes Auriculocondylar syndrome 3, MIM# 615706
Amber EDN1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Auriculocondylar syndrome 3, MIM# 615706 Cleft palate