| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia - paediatric v1.6 | TSPOAP1 | Alison Yeung Marked gene: TSPOAP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.6 | TSPOAP1 | Alison Yeung Gene: tspoap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.6 | TSPOAP1 | Alison Yeung Classified gene: TSPOAP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.6 | TSPOAP1 | Alison Yeung Gene: tspoap1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia - paediatric v1.5 | TSPOAP1 |
Ain Roesley gene: TSPOAP1 was added gene: TSPOAP1 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature Mode of inheritance for gene: TSPOAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TSPOAP1 were set to 33539324 Phenotypes for gene: TSPOAP1 were set to Dystonia, intellectual disability and cerebellar atrophy Penetrance for gene: TSPOAP1 were set to unknown Review for gene: TSPOAP1 was set to GREEN Added comment: 7 affecteds from 3 families (1 consanguineous) 2x null, 1x missense Affecteds with the null variants presented with juvenile-onset progressive generalized dystonia, associated with intellectual disability and cerebellar atrophy while those with the missense p.(Gly1808Ser) presented with isolated adult-onset focal dystonia (mild cognitive impairment noted) mice KO models were investigated Sources: Literature |
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