ECE1

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Red ECE1 in Hirschsprung disease Level 2: Gastroenterological disorders Version 0.25	1 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 1.2302	1 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	1 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	0 reviews	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 1.116	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hirschsprung disease

5 panels