| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.203 | SPG11 | Bryony Thompson Marked gene: SPG11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.203 | SPG11 | Bryony Thompson Gene: spg11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.203 | SPG11 | Bryony Thompson Classified gene: SPG11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.203 | SPG11 | Bryony Thompson Gene: spg11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.202 | SPG11 |
Bryony Thompson gene: SPG11 was added gene: SPG11 was added to Ataxia. Sources: Literature Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG11 were set to 40782215; 40730687; 39304850; 36530930; 35326432; 30778698; 29983107 Phenotypes for gene: SPG11 were set to hereditary spastic paraplegia 11, MONDO:0011445 Review for gene: SPG11 was set to GREEN Added comment: Across seven studies, SPG11 has been implicated in 15 unrelated families (17 patients) with autosomal recessive hereditary spastic paraplegia type 11 presenting with mild cerebellar ataxia, spasticity, thin or absent corpus callosum and cognitive impairment; all families carry biallelic loss‑of‑function variants, confirming a loss‑of‑function disease mechanism. Sources: Literature |
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