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| Hereditary Spastic Paraplegia - adult onset v0.64 | CYP7B1 | Zornitza Stark Phenotypes for gene: CYP7B1 were changed from Spastic paraplegia 5A, autosomal recessive, 270800 to Spastic paraplegia 5A, autosomal recessive, 270800; MONDO:0010047 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.63 | CYP7B1 | Zornitza Stark Marked gene: CYP7B1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.63 | CYP7B1 | Zornitza Stark Gene: cyp7b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.63 | CYP7B1 | Zornitza Stark Publications for gene: CYP7B1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.62 | CYP7B1 |
Zornitza Stark changed review comment from: Some individuals have pure spastic paraplegia affecting only gait, whereas others may have a complicated phenotype with additional manifestations, including optic atrophy or cerebellar ataxia. Onset highly variable, but childhood onset described in multiple individuals. Sources: Expert list; to: Some individuals have pure spastic paraplegia affecting only gait, whereas others may have a complicated phenotype with additional manifestations, including optic atrophy or cerebellar ataxia. Onset highly variable, 8-40 years. Sources: Expert list |
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| Hereditary Spastic Paraplegia - adult onset v0.0 | CYP7B1 |
Bryony Thompson gene: CYP7B1 was added gene: CYP7B1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP7B1 were set to Spastic paraplegia 5A, autosomal recessive, 270800 |
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