Neurotransmitter Defects
Gene: THEnsemblGeneIds (GRCh38): ENSG00000180176
EnsemblGeneIds (GRCh37): ENSG00000180176
OMIM: 191290, Gene2Phenotype
TH is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Tyrosine hydroxylase converts L-tyrosine to L-3,4-dihydroxyphenylalanine (L-DOPA), the essential and rate-limiting step to formation of dopamine and other catecholamines.Created: 23 Aug 2020, 11:30 a.m. | Last Modified: 23 Aug 2020, 11:30 a.m.
Panel Version: 0.77
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Segawa syndrome, recessive , MIM#605407
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Segawa syndrome, recessive , MIM#605407
- OMIM
- 191290
- Clinvar variants
- Variants in TH
- Penetrance
- None
- Publications
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: th has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TH were changed from to Segawa syndrome, recessive , MIM#605407
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: TH were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
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 Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TH was set to Unknown