Early onset dystonia
Gene: THComment on list classification: It is a confirmed DD gene for DOPA-responsive dystonia, and multiple cases reported in OMIM with different variants for Segawa syndrome, recessive.Created: 25 Aug 2016, 10:13 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, 7:32 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.
Phenotypes for TH were set to Segawa syndrome, recessive, 605407; paediatric form of dopa responsive dystonia; Segawa syndrome; DOPA-responsive dystonia
This gene has been classified as Green List (High Evidence).
Phenotypes for TH were set to Segawa syndrome, recessive, 605407; paediatric form of dopa responsive dystonia; Segawa syndrome
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for TH were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/
Model of inheritance for gene TH was changed to BIALLELIC, autosomal or pseudoautosomal
TH was added to Early onset dystoniapanel. Sources: Expert
TH was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory
TH was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen
TH was added to Early onset dystoniapanel. Sources: UKGTN