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  3. TSPOAP1
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Hereditary Spastic Paraplegia - paediatric

Gene: TSPOAP1

Green List (high evidence)
TSPOAP1 (TSPO associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000005379
EnsemblGeneIds (GRCh37): ENSG00000005379
OMIM: 610764, Gene2Phenotype
TSPOAP1 is in 5 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

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
Created: 12 Apr 2021, 5:56 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dystonia, intellectual disability and cerebellar atrophy

Publications

Created: 12 Apr 2021, 5:56 a.m.

Panel version: 1.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dystonia, intellectual disability and cerebellar atrophy
OMIM
610764
Clinvar variants
Variants in TSPOAP1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

12 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: tspoap1 has been classified as Green List (High Evidence).

12 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Alison Yeung (Victorian Clinical Genetics Services)

Gene: tspoap1 has been classified as Green List (High Evidence).

12 Apr 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Ain Roesley (Victorian Clinical Genetics Services)

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