Hereditary Spastic Paraplegia - paediatric
Gene: TSPOAP1
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, 5:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia, intellectual disability and cerebellar atrophy
Publications
Gene: tspoap1 has been classified as Green List (High Evidence).
Gene: tspoap1 has been classified as Green List (High Evidence).
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