EDN3

endothelin 3
OMIM: 131242, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green EDN3 in Familial Hirschsprung Disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.11	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Alder Hey - Erasmus MC Phenotypes susceptibility to Hirschsprung disease 4, 613712 {Hirschsprung disease, susceptibility to, 4}, 613712 Waardenburg syndrome, type 4B, 613265 Hirschsprung Disease, Dominant Waardenburg syndrome WS4B total colonic aganglionosis short-segment Hirschsprung disease Tags monogenic-polygenic
Red EDN3 in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.32	review	Not set	Sources Expert Review Red Emory Genetics Laboratory Phenotypes Pulmonary Disease
Red EDN3 in Sudden death in young people Level 3: Cardiac arrhythmia Level 2: Cardiovascular disorders Version 1.16	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Other Phenotypes Central hypoventilation syndrome, congenital, 209880 CCHS
Green EDN3 in Pigmentary skin disorders Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes WAARDENBURG SYNDROME, TYPE 4B WS4B Waardenburg syndrome
Amber EDN3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Phenotypes Central hypoventilation syndrome, congenital, OMIM:209880 Waardenburg syndrome, type 4B, OMIM:613265 {Hirschsprung disease, susceptibility to, 4}, OMIM:613712
Green EDN3 in Monogenic hearing loss Level 2: Audiology Version 5.57 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Radboud University Medical Center, Nijmegen UKGTN Phenotypes Waardenburg syndrome, type 4B, 613265 Central hypoventilation syndrome, congenital, 209880 {Hirschsprung disease, susceptibility to}, 613712
Green EDN3 in Paediatric pseudo-obstruction syndrome Level 2: Gastrohepatology Version 2.5 Latest signed off version: v2.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Waardenburg syndrome, type 4B, OMIM:613265 {Hirschsprung disease, susceptibility to, 4}, OMIM:613712 Tags monogenic-polygenic