| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.33 | BLOC1S1 | Bryony Thompson Marked gene: BLOC1S1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.33 | BLOC1S1 | Bryony Thompson Gene: bloc1s1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.33 | BLOC1S1 | Bryony Thompson Classified gene: BLOC1S1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.33 | BLOC1S1 | Bryony Thompson Gene: bloc1s1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.32 | BLOC1S1 |
Bryony Thompson gene: BLOC1S1 was added gene: BLOC1S1 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: BLOC1S1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BLOC1S1 were set to 41887224; 33875846 Phenotypes for gene: BLOC1S1 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: BLOC1S1 was set to GREEN Added comment: Biallelic BLOC1S1 loss‑of‑function variants presenting with early infantile‑onset hypomyelinating leukodystrophy, spastic tetraparesis, global developmental delay and epileptic encephalopathy. Functional assays in BLOC1S1‑KO HeLa cells and patient‑derived iPSC neurons demonstrate variant‑specific loss‑of‑function and failed rescue, supporting pathogenicity. The phenotype includes progressive spasticity. Sources: Literature |
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