Parkinson Disease and Complex Parkinsonism
Gene: TH

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

2 reviews

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Green List (high evidence)

Not clear whether TH mutations are associated with adult parkinson disease
Created: 29 Nov 2016, 4:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
infantile dopa-responsive dystonia; progressive parkinsonism with generalised dystonia

Created: 29 Nov 2016, 4:33 p.m.

Panel version: 0.137

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Multiple cases/families reported for Segawa syndrome. Also green on the Early onset dystonia gene panel, Version 1.0.
Created: 2 Nov 2016, 4:52 p.m.

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, 11:40 a.m.

Created: 10 Jun 2016, 11:40 a.m.

Panel version: Imported from "Early onset and familial Parkinson's Disease" panel version 0.42

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
infantile parkinsonism

OMIM

191290

Clinvar variants

Variants in TH

Penetrance

Complete

Publications

http://www.ncbi.nlm.nih.gov/books/NBK1155/

Panels with this gene