| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.55 | DEGS1 | Bryony Thompson Marked gene: DEGS1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.55 | DEGS1 | Bryony Thompson Gene: degs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.55 | DEGS1 | Bryony Thompson Classified gene: DEGS1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.55 | DEGS1 | Bryony Thompson Gene: degs1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.54 | DEGS1 |
Bryony Thompson gene: DEGS1 was added gene: DEGS1 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: DEGS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DEGS1 were set to 37890668; 36951944; 31186544 Phenotypes for gene: DEGS1 were set to leukodystrophy, hypomyelinating, 18, MONDO:0032730 Review for gene: DEGS1 was set to GREEN Added comment: Spasticity is a feature of the phenotype. Functional studies (plasma sphingolipid profiling, patient‑blood lipidomics and fibroblast mitochondrial assays) demonstrate loss‑of‑function of DEGS1, though rescue experiments are lacking. Sources: Literature |
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