| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia - paediatric v0.130 | PCYT2 | Zornitza Stark Marked gene: PCYT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.130 | PCYT2 | Zornitza Stark Gene: pcyt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.130 | PCYT2 | Zornitza Stark Classified gene: PCYT2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.130 | PCYT2 | Zornitza Stark Gene: pcyt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.129 | PCYT2 |
Zornitza Stark gene: PCYT2 was added gene: PCYT2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: PCYT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PCYT2 were set to 31637422 Phenotypes for gene: PCYT2 were set to global developmental delay; regression; spastic parapesis or tetraparesis; epilepsy; progressive cerebral and cerebellar atrophy Review for gene: PCYT2 was set to GREEN Added comment: Biallelic hypomorph variants in 5 affected cases from 4 families with complicated hereditary spastic paraplegia, onset between 2 and 16 years of age. Zebrafish model similar to previous HSP zebrafish models. Sources: Expert list |
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