Incidentalome
Gene: TH
TH (tyrosine hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000180176
EnsemblGeneIds (GRCh37): ENSG00000180176
OMIM: 191290, Gene2Phenotype
TH is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000180176
EnsemblGeneIds (GRCh37): ENSG00000180176
OMIM: 191290, Gene2Phenotype
TH is in 14 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Dementia and cognitive decline are not a prominent feature of this condition. The condition is characterised by infantile-onset dopa-responsive dystonia.Created: 6 Feb 2020, 6:47 a.m. | Last Modified: 6 Feb 2020, 6:47 a.m.
Panel Version: 0.12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Segawa syndrome, recessive MIM#605407
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 191290
- Clinvar variants
- Variants in TH
- Penetrance
- None
- Panels with this gene
-
- Dystonia - isolated/combined
- BabyScreen+ newborn screening
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Cerebral Palsy
- Early-onset Parkinson disease
- Neurotransmitter Defects
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Aminoacidopathy
- Incidentalome
- Early-onset Dementia
- Additional findings_Paediatric
- Prepair 1000+
History Filter Activity
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 Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TH was set to Unknown