Early onset dystonia
Gene: THAP1Comment from the Parkinson panel: Monoallelic mutations cause DYT6 (features: early involvement of craniofacial muscles with secondary generalization often involving the arms, and laryngeal dystonia that causes speech difficulties). This is a well known DYT6 gene, accounts for a substantial proportion of familial, early-onset, nonfocal, primary dystonia cases. PMID: 21793105. Consider moving this gene to the dystonia panel?Created: 15 Dec 2016, 11:10 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
DYT6
Comment on list classification: It is a 'both DD and IF' gene for Dystonia 6, Torsion in Gene2Phenotype and multiple families reported in OMIM, with different variants from different ehnicities.Created: 25 Aug 2016, 10:17 a.m.
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, 8:58 a.m.
Comment on list classification: Should be green due to information within the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual for dystonia.Created: 10 Jun 2016, 7:33 a.m.
17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for THAP1 were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/
Mode of inheritance for THAP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Model of inheritance for gene THAP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene THAP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene THAP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene THAP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene THAP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene THAP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene THAP1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
THAP1 was added to Early onset dystoniapanel. Sources: Expert
THAP1 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory
THAP1 was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen
THAP1 was added to Early onset dystoniapanel. Sources: Illumina TruGenome Clinical Sequencing Services