| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.35 | BORCS5 | Bryony Thompson Marked gene: BORCS5 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.35 | BORCS5 | Bryony Thompson Gene: borcs5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.35 | BORCS5 | Bryony Thompson Classified gene: BORCS5 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.35 | BORCS5 | Bryony Thompson Gene: borcs5 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.34 | BORCS5 |
Bryony Thompson gene: BORCS5 was added gene: BORCS5 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BORCS5 were set to 42012897 Phenotypes for gene: BORCS5 were set to complex neurodevelopmental disorder, MONDO:0100038 Review for gene: BORCS5 was set to GREEN Added comment: Autosomal recessive loss‑of‑function disease characterised by early‑onset neurodevelopmental disorder, progressive spasticity, seizures, optic atrophy and cerebral atrophy. Functional studies in zebrafish knock‑out models and patient‑derived fibroblasts, iPSC‑neurons show lysosomal dysfunction and rescue with wild‑type mRNA, supporting pathogenicity. Sources: Literature |
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