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  2. Early onset and familial Parkinson's Disease
  3. THAP1
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Early onset and familial Parkinson's Disease

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

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Is on the Complex Parkinson's Disease/Dystonia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 10 Jun 2016, 11:44 a.m.
Created: 10 Jun 2016, 11:44 a.m.

Panel version: 0.44

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dystonia
  • Dystonia 6, torsion, 602629
OMIM
609520
Clinvar variants
Variants in THAP1
Penetrance
Complete
Publications
  • http://www.ncbi.nlm.nih.gov/books/NBK1155/
Panels with this gene

History Filter Activity

10 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

THAP1 was created by ellenmcdonagh

10 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

THAP1 was added to Early onset and familial Parkinson's Diseasepanel. Sources: Expert list