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  3. THAP1
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Childhood 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

1 review

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

Green List (high evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • PanelApp
  • Expert Review Green
  • London North GLH
Phenotypes
  • Dystonia 6, torsion, 602629
  • Dystonia
OMIM
609520
Clinvar variants
Variants in THAP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to THAP1. Mode of inheritance for gene THAP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Dystonia 6, torsion, 602629; Dystonia for gene: THAP1 Publications for gene THAP1 were changed from to 20301334

6 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: THAP1 was added gene: THAP1 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Green Mode of inheritance for gene: THAP1 was set to