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| Hereditary Spastic Paraplegia - adult onset v0.62 | CYP27A1 | Zornitza Stark Marked gene: CYP27A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.62 | CYP27A1 | Zornitza Stark Gene: cyp27a1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.62 | CYP27A1 | Zornitza Stark Phenotypes for gene: CYP27A1 were changed from Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness to Cerebrotendinous xanthomatosis, 213700; MONDO:0008948; progressive lower extremity spasticity,often disproportionate to any degree of weakness | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.61 | CYP27A1 | Zornitza Stark edited their review of gene: CYP27A1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.61 | CYP27A1 | Zornitza Stark reviewed gene: CYP27A1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis MIM#213700; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.7 | CYP27A1 | Bryony Thompson reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31706903, 29321515; Phenotypes: Cerebrotendinous xanthomatosis MIM#213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.0 | CYP27A1 |
Bryony Thompson gene: CYP27A1 was added gene: CYP27A1 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness |
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