EDN3

endothelin 3
OMIM: 131242, ClinGen, DECIPHER

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red EDN3 in Central Hypoventilation Level 2: Neurology and neurodevelopmental disorders Version 1.5	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Central hypoventilation syndrome, congenital, MIM# 209880 Tags disputed
Green EDN3 in Hirschsprung disease Level 2: Gastroenterological disorders Version 0.25	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Central hypoventilation syndrome, congenital, MIM# 209880 Waardenburg syndrome, type 4B, MIM# 613265 {Hirschsprung disease, susceptibility to, 4}, MIM# 613712
Red EDN3 in Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Central hypoventilation syndrome, congenital, MIM# 209880
Green EDN3 in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Central hypoventilation syndrome, congenital, MIM# 209880 Waardenburg syndrome, type 4B, MIM# 613265 {Hirschsprung disease, susceptibility to, 4}, MIM# 613712
Green EDN3 in Deafness_IsolatedAndComplex Level 2: Hearing and ear disorders Version 1.210	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Waardenburg syndrome, type 4B, MIM# 613265
Green EDN3 in Gastrointestinal neuromuscular disease Level 2: Gastroenterological disorders Version 1.24 Component of the following Super Panels: Neuromuscular Superpanel	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Waardenburg syndrome, type 4B, MIM# 613265
Green EDN3 in Deafness_Isolated Level 2: Hearing and ear disorders Version 1.67	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Deafness Flagship Melbourne Genomics Health Alliance Deafness Flagship Victorian Clinical Genetics Services Phenotypes Waardenburg syndrome, type 4B, MIM# 613265
Green EDN3 in Additional findings_Paediatric Level 2: Screening Version 0.278	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes Waardenburg syndrome
Green EDN3 in Fetal anomalies Version 1.313	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Central hypoventilation syndrome, congenital, MIM# 209880 Waardenburg syndrome, type 4B, MIM# 613265 {Hirschsprung disease, susceptibility to, 4}, MIM# 613712
Green EDN3 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BabySeq Category C gene Phenotypes Waardenburg syndrome, type 4B, MIM# 613265 Tags deafness