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  3. TH
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Early onset dystonia

Gene: TH

Green List (high evidence)
TH (tyrosine hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000180176
EnsemblGeneIds (GRCh37): ENSG00000180176
OMIM: 191290, Gene2Phenotype
TH is in 11 panels

1 review

Ellen McDonagh (Genomics England Curator)

Comment 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.
Created: 10 Jun 2016, 7:32 a.m.

Panel version: 0.110

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Segawa syndrome, recessive, 605407
  • paediatric form of dopa responsive dystonia
  • Segawa syndrome
  • DOPA-responsive dystonia
Tags
treatable
OMIM
191290
Clinvar variants
Variants in TH
Penetrance
Complete
Publications
  • http://www.ncbi.nlm.nih.gov/books/NBK1155/
Panels with this gene

History Filter Activity

17 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

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.

25 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for TH were set to Segawa syndrome, recessive, 605407; paediatric form of dopa responsive dystonia; Segawa syndrome; DOPA-responsive dystonia

25 Aug 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: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for TH were set to Segawa syndrome, recessive, 605407; paediatric form of dopa responsive dystonia; Segawa syndrome

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).

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

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

27 May 2016, Gel status: 3

Set publications

Ellen Thomas (Genomics England Curator)

Publications for TH were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/

16 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TH was changed to BIALLELIC, autosomal or pseudoautosomal

16 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

TH was added to Early onset dystoniapanel. Sources: Expert

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

TH was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

TH was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

TH was added to Early onset dystoniapanel. Sources: UKGTN