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  3. TSPOAP1
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Dystonia - complex

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dystonia 22, MIM# 620453

Created: 26 Jul 2023, midnight
Last Modified: 26 Jul 2023, midnight
Panel version: 0.224

Tiong Tan (Victorian Clinical Genetics Services)

Green List (high evidence)

Sources: Literature
Created: 12 Apr 2021, 5:53 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
dystonia; intellectual disability; cerebellar atrophy

Publications

Created: 12 Apr 2021, 5:53 a.m.

Panel version: 0.171

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dystonia 22, MIM# 620453
OMIM
610764
Clinvar variants
Variants in TSPOAP1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 Jul 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TSPOAP1 were changed from dystonia; intellectual disability; cerebellar atrophy to Dystonia 22, MIM# 620453

26 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Apr 2021, Gel status: 1

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

Tiong Tan (Victorian Clinical Genetics Services)

gene: TSPOAP1 was added gene: TSPOAP1 was added to Dystonia - complex. 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; cerebellar atrophy Penetrance for gene: TSPOAP1 were set to Complete Review for gene: TSPOAP1 was set to GREEN