1. Panels
  2. Adult onset dystonia, chorea or related movement disorder
  3. THAP1
Genes in panel
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Adult onset dystonia, chorea or related movement disorder

Gene: THAP1

Green List (high evidence)
THAP1 (THAP domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000131931
EnsemblGeneIds (GRCh37): ENSG00000131931
OMIM: 609520, Gene2Phenotype
THAP1 is in 8 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 1:19 p.m.
Created: 23 Apr 2019, 1:19 p.m.

Panel version: 0.54

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Created: 23 Apr 2019, 1:13 p.m.

Panel version: 0.53

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Dystonia 6, torsion, OMIM:602629
OMIM
609520
Clinvar variants
Variants in THAP1
Penetrance
None
Publications
  • http://www.ncbi.nlm.nih.gov/books/NBK1155/
  • 21793105
Panels with this gene

History Filter Activity

29 Mar 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: THAP1 were changed from Dystonia 6, torsion, 602629; Dystonia to Dystonia 6, torsion, OMIM:602629

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to THAP1.

23 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to THAP1.

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: THAP1 was added gene: THAP1 was added to Adult onset movement disorder. Sources: Expert Review Green Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: THAP1 were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 21793105 Phenotypes for gene: THAP1 were set to Dystonia 6, torsion, 602629; Dystonia