| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hirschsprung disease v0.12 | ECE1 | Zornitza Stark Marked gene: ECE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.12 | ECE1 | Zornitza Stark Gene: ece1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.12 | ECE1 | Zornitza Stark 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.11 | ECE1 |
Chirag Patel 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 Added comment: 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: Literature |
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