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| Paediatric pseudo-obstruction syndrome v0.216 | ECE1 | Achchuthan Shanmugasundram reviewed gene: ECE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.186 | ECE1 | Arina Puzriakova Publications for gene: ECE1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.185 | ECE1 | Arina Puzriakova Classified gene: ECE1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.185 | ECE1 | Arina Puzriakova Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.185 | ECE1 | Arina Puzriakova Gene: ece1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.184 | ECE1 | Arina Puzriakova Mode of inheritance for gene: ECE1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.183 | ECE1 | Arina Puzriakova Phenotypes for gene: ECE1 were changed from to ?Hirschsprung disease, cardiac defects, and autonomic dysfunction, OMIM:613870 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.2 | ECE1 | Eleanor Williams reviewed gene: ECE1: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: Short segment megacolon, craniofacial defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric pseudo-obstruction syndrome v0.1 | ECE1 |
Eleanor Williams 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 |
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