Hereditary Spastic Paraplegia - adult onset
Gene: TSPOAP1
Presentation is with dystonia rather than features of HSP.Created: 26 Jul 2023, 12:45 a.m. | Last Modified: 26 Jul 2023, 12:45 a.m.
Panel Version: 1.6
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia 22, MIM# 620453
Comment on list classification: phenotype of adult-onset disease is focal dystoniaCreated: 12 Apr 2021, 6:17 a.m. | Last Modified: 12 Apr 2021, 6:17 a.m.
Panel Version: 1.1
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: LiteratureCreated: 12 Apr 2021, 5:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, intellectual disability and cerebellar atrophy
Publications
Phenotypes for gene: TSPOAP1 were changed from Dystonia, intellectual disability and cerebellar atrophy to Dystonia 22, MIM# 620453
Gene: tspoap1 has been classified as Red List (Low Evidence).
Gene: tspoap1 has been classified as Red List (Low Evidence).
gene: TSPOAP1 was added gene: TSPOAP1 was added to Hereditary Spastic Paraplegia - adult onset. 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 AMBER