Paediatric pseudo-obstruction syndrome
Gene: ECE1
The rating of this gene has been updated to Amber and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 7:44 a.m. | Last Modified: 1 Feb 2023, 7:44 a.m.
Panel Version: 0.216
Comment on list classification: Only a single human patient discovered to date - Hofstra et al. (1999, PMID:9915973) identified heterozygosity an R742C mutation in the ECE1 gene in a patient with skip-lesions Hirschsprung disease, cardiac defects, craniofacial abnormalities and other dysmorphic features, and autonomic dysfunction (HCAD, MIM:613870). Given mouse model displays distal intestinal aganglionosis (PMID: 9449665; 17131407) have rated Amber but additional human cases are required to meet diagnostic-grade criteria.Created: 3 Jan 2023, 2:39 p.m. | Last Modified: 3 Jan 2023, 2:39 p.m.
Panel Version: 0.185
Review submitted on behalf of Dr. Anna Rybak and Dr. Osvaldo Borreli, Great Ormond Street Hospital for Children NHS Foundation Trust. Gene group: Genes involved in Hirschsprung disease (HSCR) in humans and models of megacolon. Protein function: Not given.Created: 20 Dec 2022, 3:32 p.m. | Last Modified: 20 Dec 2022, 3:32 p.m.
Panel Version: 0.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Short segment megacolon, craniofacial defects
Publications for gene: ECE1 were set to
Gene: ece1 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: ECE1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ECE1 were changed from to ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM:613870
gene: ECE1 was added gene: ECE1 was added to Paediatric pseudo-obstruction syndrome. Sources: Expert list Mode of inheritance for gene: ECE1 was set to