Complex Parkinsonism (includes pallido-pyramidal syndromes)

Gene: TH

Green List (high evidence)

TH (tyrosine hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000180176
EnsemblGeneIds (GRCh37): ENSG00000180176
OMIM: 191290, Gene2Phenotype
TH is in 13 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, 11:39 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Segawa syndrome, recessive, 605407
  • paediatric form of dopa responsive dystonia
  • Segawa syndrome
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

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)

TH was created by ellenmcdonagh

10 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TH was added to Complex Parkinsonism (includes pallido-pyramidal syndromes)panel. Sources: Expert list