| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hirschsprung disease v0.13 | L1CAM | Tiong Tan Marked gene: L1CAM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.13 | L1CAM | Tiong Tan Gene: l1cam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.13 | L1CAM | Tiong Tan reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 15148591, 9279760, 11857550, 22344793, 11897831; Phenotypes: Hirschsprung disease in L1CAM syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hirschsprung disease v0.0 | L1CAM |
Zornitza Stark gene: L1CAM was added gene: L1CAM was added to Hirschsprung disease_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: L1CAM was set to Unknown |
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