Dystonia - childhood onset

Gene: TH

Green List (high evidence)

TH (tyrosine hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000180176
EnsemblGeneIds (GRCh37): ENSG00000180176
OMIM: 191290, Gene2Phenotype
TH is in 12 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Segawa syndrome
  • paediatric form of dopa responsive dystonia
  • Tyrosine Hydroxylase Deficiency
  • DOPA-responsive dystonia
  • Segawa syndrome, recessive, 605407
Tags
treatable
OMIM
191290
Clinvar variants
Variants in TH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1

19 Dec 2018, Gel status: 4

Added Tag

Eleanor Williams (Genomics England Curator)

Tag treatable tag was added to gene: TH.

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: TH was added gene: TH was added to Dystonia - childhood onset. Sources: Expert Review Green Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TH were set to 21937992; 17696123; 27830117; 7814018; 8528210; 9732974; 20301334; 9703425; 10585338; 8817341; 11246459 Phenotypes for gene: TH were set to Segawa syndrome; paediatric form of dopa responsive dystonia; Tyrosine Hydroxylase Deficiency; DOPA-responsive dystonia; Segawa syndrome, recessive, 605407