Neurotransmitter disorders
Gene: THEnsemblGeneIds (GRCh38): ENSG00000180176
EnsemblGeneIds (GRCh37): ENSG00000180176
OMIM: 191290, Gene2Phenotype
TH is in 11 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: changed status to Green due to expert review and evidence in the literature to support the phenotypeCreated: 25 May 2017, 5:32 p.m.
Added treatable tag. Clinical Genomic Database Comments (NIH/NHGRI): AR disease can have infantile onset, and treatment (eg, with L-dopa alone or combined with other medications), can be effective, though not has not been reported to be universally soCreated: 25 May 2017, 5:30 p.m.
Comment on publications: more than three unrelated families with Tyrosine Hydroxylase DeficiencyCreated: 25 May 2017, 5:25 p.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Segawa syndrome, recessive, 605407
- Tyrosine Hydroxylase Deficiency
- DOPA-responsive dystonia
- Tags
- OMIM
- 191290
- Clinvar variants
- Variants in TH
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Neurotransmitter disorders
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- DDG2P
- Intellectual disability
- Fetal anomalies
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
History Filter Activity
panel promoted to version 1
Louise Daugherty (Genomics England Curator)25th May 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Louise Daugherty (Genomics England Curator)Publications for TH were set to 27830117; 7814018; 9703425; 11246459; 21937992; 7814018; 17696123; 9732974; 8528210; 8817341; 10585338;
Set publications
Louise Daugherty (Genomics England Curator)Publications for TH were set to 27830117; 7814018; 9703425; 11246459; 21937992;7814018 17696123; 9732974; 8528210; 8817341; 10585338;
Set publications
Louise Daugherty (Genomics England Curator)Publications for TH were set to 27830117;7814018;9703425;11246459;21937992
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for TH were set to Segawa syndrome, recessive, 605407; Tyrosine Hydroxylase Deficiency; DOPA-responsive dystonia
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for TH were set to Segawa syndrome, recessive, 605407;Tyrosine Hydroxylase Deficiency
Upload gene information
Louise Daugherty (Genomics England Curator)TH was added to Neurotransmitter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN
Created
Manju Kurian (UCL-Institute of Child Health)TH was created by Manju
Added New Source
Manju Kurian (UCL-Institute of Child Health)TH was added to Neurotransmitter disorderspanel. Sources: Literature