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| 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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| Hirschsprung disease v0.4 | SMO | Zornitza Stark Phenotypes for gene: SMO were changed from Microcephaly, congenital heart disease, polydactyly, aganglionosis to Microcephaly, congenital heart disease, polydactyly, aganglionosis; Pallister-Hall-like syndrome , MIM#241800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.3 | SMO | Zornitza Stark edited their review of gene: SMO: Changed phenotypes: Microcephaly, congenital heart disease, polydactyly, aganglionosis, Pallister-Hall-like syndrome , MIM#241800 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.3 | SMO | Zornitza Stark Marked gene: SMO as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.3 | SMO | Zornitza Stark Gene: smo has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.3 | SMO | Zornitza Stark Classified gene: SMO as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.3 | SMO | Zornitza Stark Gene: smo has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.2 | SMO |
Zornitza Stark gene: SMO was added gene: SMO was added to Hirschsprung disease. Sources: Literature Mode of inheritance for gene: SMO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMO were set to 32413283 Phenotypes for gene: SMO were set to Microcephaly, congenital heart disease, polydactyly, aganglionosis Review for gene: SMO was set to GREEN Added comment: Bi-allelic loss-of-function variations in SMO reported in seven individuals from five independent families. Wide phenotypic spectrum of developmental anomalies affecting the brain (hypothalamic hamartoma and microcephaly), heart (atrioventricular septal defect), skeleton (postaxial polydactyly, narrow chest, and shortening of long bones), and enteric nervous system (aganglionosis). Sources: Literature |
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