1. Panels
  2. Early-onset Parkinson disease
  3. TH
Regions in panel
Prev Next

Early-onset Parkinson disease

Gene: TH

Green List (high evidence)
TH (tyrosine hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000180176
EnsemblGeneIds (GRCh37): ENSG00000180176
OMIM: 191290, Gene2Phenotype
TH is in 14 panels

1 review

Kaitlyn Dianna Weldon (University of Melbourne)

Green List (high evidence)

This is a well-established Parkinson disease gene
Created: 7 Sep 2023, 10:42 p.m. | Last Modified: 7 Sep 2023, 10:42 p.m.
Panel Version: 0.264

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
TH-deficient dopa-responsive dystonia MONDO:0011551; tyrosine hydroxylase deficiency MONDO:0100064

Publications

Created: 7 Sep 2023, 10:42 p.m.
Last Modified: 7 Sep 2023, 10:42 p.m.
Panel version: 0.264

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Complex Neurology Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Tyrosine hydroxylase deficiency MONDO:0100064
OMIM
191290
Clinvar variants
Variants in TH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Apr 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: th has been classified as Green List (High Evidence).

21 Apr 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: TH were changed from to Tyrosine hydroxylase deficiency MONDO:0100064

21 Apr 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: TH were set to 20301334; 20301610

21 Apr 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: TH were set to

21 Apr 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: TH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TH was added gene: TH was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: TH was set to Unknown