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| Hereditary Spastic Paraplegia - adult onset v0.57 | BSCL2 | Zornitza Stark Marked gene: BSCL2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.57 | BSCL2 | Zornitza Stark Gene: bscl2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.57 | BSCL2 | Zornitza Stark Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, 270685; HSP 14, MONDO:0010043 to Silver spastic paraplegia syndrome, 270685; HSP 17, MONDO:0010043 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.56 | BSCL2 | Zornitza Stark Phenotypes for gene: BSCL2 were changed from Silver spastic paraplegia syndrome, 270685 to Silver spastic paraplegia syndrome, 270685; HSP 14, MONDO:0010043 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.55 | BSCL2 |
Zornitza Stark changed review comment from: Age of onset 8-40 years.; to: Age of onset 8-40 years. Bi-allelic variants cause a more severe neurodegenerative phenotype with onset in first few years of life. |
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| Hereditary Spastic Paraplegia - adult onset v0.55 | BSCL2 | Zornitza Stark reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Silver spastic paraplegia syndrome MIM#270685; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - adult onset v0.0 | BSCL2 |
Bryony Thompson gene: BSCL2 was added gene: BSCL2 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BSCL2 were set to Silver spastic paraplegia syndrome, 270685 |
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