| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.107 | PLA2G6 | Bryony Thompson Marked gene: PLA2G6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.107 | PLA2G6 | Bryony Thompson Gene: pla2g6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.107 | PLA2G6 | Bryony Thompson Classified gene: PLA2G6 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.107 | PLA2G6 | Bryony Thompson Gene: pla2g6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.106 | PLA2G6 |
Bryony Thompson gene: PLA2G6 was added gene: PLA2G6 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLA2G6 were set to 40753802; 40263418; 39184971; 35624904; 31104286; 30302010; 28295203 Disease associations for gene: PLA2G6 were set to PLA2G6-associated neurodegeneration MONDO:0017998 Review for gene: PLA2G6 was set to GREEN Added comment: Multiple independent studies report that biallelic loss‑of‑function variants in PLA2G6 cause a complicated hereditary spastic paraplegia (cHSP) phenotype characterised by spastic gait, hyperreflexia, Babinski sign, cerebellar atrophy, dystonia, parkinsonism and cognitive decline. Sources: Literature |
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