ECE1

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Red ECE1 in Hirschsprung disease Level 2: Gastroenterological disorders Version 0.25	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870
Red ECE1 in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870
Red ECE1 in Gastrointestinal neuromuscular disease Level 2: Gastroenterological disorders Version 1.24 Component of the following Super Panels: Neuromuscular Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes ?Hirschsprung disease, cardiac defects, and autonomic dysfunction MIM#613870
Red ECE1 in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category C gene Phenotypes Hirschsprung disease
Red ECE1 in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hirschsprung disease

5 panels