| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Gastrointestinal neuromuscular disease v0.27 | L1CAM |
Bryony Thompson changed review comment from: At least 6 male cases in 5 unrelated families reported with hydrocephalus with Hirchsprung disease. Sources: Expert list; to: At least 6 male cases in 5 unrelated families reported with hydrocephalus and Hirchsprung disease/intestinal pseudo-obstruction. Sources: Expert list |
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| Gastrointestinal neuromuscular disease v0.27 | L1CAM | Bryony Thompson Marked gene: L1CAM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.27 | L1CAM | Bryony Thompson Gene: l1cam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.27 | L1CAM | Bryony Thompson Classified gene: L1CAM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.27 | L1CAM | Bryony Thompson Gene: l1cam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Gastrointestinal neuromuscular disease v0.26 | L1CAM |
Bryony Thompson gene: L1CAM was added gene: L1CAM was added to Gastrointestinal neuromuscular disease. Sources: Expert list Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: L1CAM were set to 9279760; 11857550; 15148591; 15368500; 22354677 Phenotypes for gene: L1CAM were set to Hydrocephalus with Hirschsprung disease or congenital idiopathic intestinal pseudoobstruction MIM#307000 Review for gene: L1CAM was set to GREEN Added comment: At least 6 male cases in 5 unrelated families reported with hydrocephalus with Hirchsprung disease. Sources: Expert list |
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