This Panel is marked as Internal
Early onset and familial Parkinson's Disease
Gene: TH
TH (tyrosine hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000180176
EnsemblGeneIds (GRCh37): ENSG00000180176
OMIM: 191290, Gene2Phenotype
TH is in 11 panels
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: 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.
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
-
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Undiagnosed metabolic disorders
- Neurotransmitter disorders
- Intellectual disability
- Parkinson Disease and Complex Parkinsonism
- Early onset dystonia
- Adult onset dystonia, chorea or related movement disorder
- Adult onset neurodegenerative disorder
- DDG2P
- Likely inborn error of metabolism
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
Added New Source
Ellen McDonagh (Genomics England Curator)TH was added to Early onset and familial Parkinson's Diseasepanel. Sources: Expert list
10 Jun 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)TH was created by ellenmcdonagh