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Intellectual disability

Gene: TSPOAP1

Green List (high evidence)
TSPOAP1 (TSPO associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000005379
EnsemblGeneIds (GRCh37): ENSG00000005379
OMIM: 610764, Gene2Phenotype
TSPOAP1 is in 2 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 3 May 2024, 11:55 a.m. | Last Modified: 3 May 2024, 11:55 a.m.
Panel Version: 6.11
Not associated with a phenotype in OMIM, Gen2Phen or MONDO. At least three TSPOAP1variants have been reported in three unrelated families. Family members carrying homozygous TSPOAP1 variants have dystonia, intellectual disability and cerebellar atrophy to varying degrees. Motor symptoms were apparent between 11 and 13 years of age for NM_004758: c.2449_2450delinsTG, p.Gln817* and c.538delG, p.Ala180Profs*8, while NM_004758: c.5422G>A, p.Gly1808Ser was from 58 years through to the 60s. Similarly, cognitive impairment was apparent from school age and progressed to moderate to extensive, in the carries of the two terminating TSPOAP1 variants, while those with the missense variant were diagnosed with mild cognitive impairment (PMID: 33539324). In vitro functional studies and mouse models support the association of the TSPOAP1 variants and phenotypes seen in the cases (PMID: 33539324).
Created: 13 Jun 2023, 2:36 p.m. | Last Modified: 13 Jun 2023, 3:01 p.m.
Panel Version: 3.12
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 13 Jun 2023, 2:16 p.m. | Last Modified: 13 Jun 2023, 2:16 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 13 Jun 2023, 2:16 p.m.
Last Modified: 13 Jun 2023, 3:01 p.m.
Copied from panel: Childhood onset dystonia, chorea or related movement disorder v3.13

Zornitza Stark (Australian Genomics)

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). Mouse model.
Sources: Literature
Created: 17 Apr 2021, 8:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dystonia, intellectual disability and cerebellar atrophy

Publications

Created: 17 Apr 2021, 8:06 a.m.

Copied from panel: Childhood onset dystonia, chorea or related movement disorder v3.13

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Literature
Phenotypes
  • Dystonia, intellectual disability and cerebellar atrophy
OMIM
610764
Clinvar variants
Variants in TSPOAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 May 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_promote_green was removed from gene: TSPOAP1.

3 May 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to TSPOAP1. Source NHS GMS was added to TSPOAP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

13 Jun 2023, Gel status: 2

Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_23_promote_green tag was added to gene: TSPOAP1.

13 Jun 2023, Gel status: 2

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

Sarah Leigh (Genomics England Curator)

gene: TSPOAP1 was added gene: TSPOAP1 was added to Intellectual disability - microarray and sequencing. Sources: Literature,Expert Review Amber 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