| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia - paediatric v0.44 | REEP1 | Zornitza Stark Marked gene: REEP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.44 | REEP1 | Zornitza Stark Gene: reep1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.44 | REEP1 | Zornitza Stark Classified gene: REEP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.44 | REEP1 | Zornitza Stark Gene: reep1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.43 | REEP1 |
Zornitza Stark gene: REEP1 was added gene: REEP1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: REEP1 were set to 16826527; 19034539 Phenotypes for gene: REEP1 were set to Spastic paraplegia 31, autosomal dominant, MIM# 610250 Review for gene: REEP1 was set to GREEN Added comment: Gene also causes a neuropathy, and the two manifestations may represent a spectrum of disease. Age of onset highly variable, but onset in late childhood described. Sources: Expert list |
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