| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia - paediatric v0.93 | AP5Z1 | Zornitza Stark Marked gene: AP5Z1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.93 | AP5Z1 | Zornitza Stark Gene: ap5z1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.93 | AP5Z1 | Zornitza Stark Classified gene: AP5Z1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.93 | AP5Z1 | Zornitza Stark Gene: ap5z1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v0.92 | AP5Z1 |
Zornitza Stark gene: AP5Z1 was added gene: AP5Z1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP5Z1 were set to 26085577 Phenotypes for gene: AP5Z1 were set to Spastic paraplegia 48, autosomal recessive, MIM# 613647 Review for gene: AP5Z1 was set to AMBER Added comment: Onset is generally in adulthood though at least one individual with childhood onset reported. Sources: Expert list |
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