Aminoacidopathy
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
Sangavi Sivagnanasundram (Melbourne Health)
>10 unrelated probands reported with an inborn error in tyrosine metabolism.
Classified Definitive by Aminoacidopathy GCEP on 22/03/2019 - https://search.clinicalgenome.org/CCID:006363
Sources: ClinGenCreated: 18 Jul 2024, 1:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
tyrosine hydroxylase deficiency MONDO:0100064
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- tyrosine hydroxylase deficiency MONDO:0100064
- 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
18 Jul 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: th has been classified as Green List (High Evidence).
18 Jul 2024, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: th has been classified as Green List (High Evidence).
18 Jul 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: TH was added gene: TH was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TH were set to 30383639; 29225908; 22264700; 12891655 Phenotypes for gene: TH were set to tyrosine hydroxylase deficiency MONDO:0100064 Review for gene: TH was set to GREEN