| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia - paediatric v0.2 | L1CAM | Bryony Thompson Marked gene: L1CAM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.2 | L1CAM | Bryony Thompson Gene: l1cam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.2 | L1CAM | Bryony Thompson Classified gene: L1CAM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.2 | L1CAM | Bryony Thompson Gene: l1cam has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.1 | L1CAM |
Bryony Thompson gene: L1CAM was added gene: L1CAM was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: L1CAM were set to Hereditary spastic paraplegia, 308840; MASA syndrome, 303350; X-linked hydrocephalus, 307000 Review for gene: L1CAM was set to GREEN Added comment: Early onset spastic paraplegia is a prominent feature of the phenotype. The syndrome is also known as SPG1. Sources: Expert list |
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