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| Gastrointestinal neuromuscular disease v0.15 | ECE1 | Bryony Thompson Marked gene: ECE1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.15 | ECE1 | Bryony Thompson Gene: ece1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.15 | ECE1 |
Bryony Thompson gene: ECE1 was added gene: ECE1 was added to Gastrointestinal neuromuscular disease. Sources: Expert list Mode of inheritance for gene: ECE1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ECE1 were set to 9915973 Phenotypes for gene: ECE1 were set to ?Hirschsprung disease, cardiac defects, and autonomic dysfunction MIM#613870 Review for gene: ECE1 was set to RED Added comment: A single case reported with Arg742Cys. Although this variant causes a loss of function in in vitro assays the NFE AF is higher than expected for a dominant disorder (0.0004, 50/127,302 alleles). Sources: Expert list |
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