Hirschsprung disease
Gene: ECE1EnsemblGeneIds (GRCh38): ENSG00000117298
EnsemblGeneIds (GRCh37): ENSG00000117298
OMIM: 600423, Gene2Phenotype
ECE1 is in 5 panels
1 review
Chirag Patel (Genetic Health Queensland)
1 patient reported in 1999: skip-lesions Hirschsprung disease, cardiac defects, craniofacial abnormalities, other dysmorphic/digit features, and autonomic dysfunction. A heterozygous variant (R742C) was identified, but parents were not available for testing. The activity of the mutant ECE-1 was 4.7% of that of wild-type ECE-1. The variant was thought to lead to the phenotype by resulting in reduced levels of EDN1 and EDN3. Ece1−/− mice exhibit neonatal lethality due to craniofacial and cardiac defects identical to those seen in Edn1−/− mice. In addition, Ece1−/− newborns lack enteric ganglia in the terminal colons, so Ece1 knockout mice seem to present a combination of features characteristic for the Edn1 and Edn3 knockout mice.
Sources: LiteratureCreated: 2 Mar 2021, 4:20 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
?Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870
- OMIM
- 600423
- Clinvar variants
- Variants in ECE1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ece1 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ECE1 were changed from ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870 to Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: ECE1 was added gene: ECE1 was added to Hirschsprung disease. Sources: Literature Mode of inheritance for gene: ECE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ECE1 were set to PMID: 9915973; 9449665; 9449664 Phenotypes for gene: ECE1 were set to ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM # 613870 Review for gene: ECE1 was set to RED