Dystonia - childhood onset

Gene: THAP1

Green List (high evidence)

THAP1 (THAP domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000131931
EnsemblGeneIds (GRCh37): ENSG00000131931
OMIM: 609520, Gene2Phenotype
THAP1 is in 9 panels

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Details

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

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

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

Eleanor Williams (Genomics England Curator)

gene: THAP1 was added gene: THAP1 was added to Dystonia - childhood onset. 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 20301334 Phenotypes for gene: THAP1 were set to Dystonia 6, torsion, 602629; Dystonia