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BabyScreen+ newborn screening

Gene: TH

Green List (high evidence)

TH (tyrosine hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000180176
EnsemblGeneIds (GRCh37): ENSG00000180176
OMIM: 191290, Gene2Phenotype
TH is in 14 panels

1 review

John Christodoulou (Murdoch Children's Research Institute)

Green List (high evidence)

Tyrosine hydroxylase deficiency is associated with a broad phenotypic spectrum. Findings in mild cases can be limited intially to unilateral or asymmetric limb dystonia, postural tremor, or gait incoordination, however, progression over time may result in the classic dopa-responsive dystonic gait disorder. Diurnal variation of motor symptoms may be present, worse in the afternoon or evening. Children at the severe end of the spectrum are profoundly disabled from early infancy with developmental motor delay, truncal hypotonia, limb rigidity, and hypokinesia. Ptosis and/or oculogyric crises are common.

diagnosis can be confirmed by measuring CSF neurotransmitters - low HVA and MHPG; normal pterins

treatment with L-Dopa + carbidopa improves psychomotor/cognitive development/IQ; improves neurological manifestations; especially the infantile onset form
Created: 23 Dec 2022, 5:27 a.m. | Last Modified: 23 Dec 2022, 5:27 a.m.
Panel Version: 0.1643

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
dystonia; Parkinsonism; dev delay; hypotonia; oculogyric crises

Publications

Details

History Filter Activity

23 Dec 2022, 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).

23 Dec 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TH were set to

23 Dec 2022, Gel status: 3

Added Tag, Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: TH. Tag endocrine tag was added to gene: TH.

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TH was added gene: TH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TH were set to Tyrosine hydroxylase deficiency, MIM#605407