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Intellectual disability syndromic and non-syndromic

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

Claire Fryer-Smith (University of Melbourne)

Green List (high evidence)

The recessive form of Segawa syndrome (also known as Tyrosine hydroxylase deficiency) is a neurologic disorder caused by biallelic variants in TH. Features include dystonia, parkinsonism, motor delay, and speech delay due to decreased activity of tyrosine hydroxylase (PMID: 22815559, 11196107, 10585338).

Tyrosine hydroxylase deficiency
http://iembase.com/disorder/99
Created: 15 Sep 2023, 1:42 a.m. | Last Modified: 15 Sep 2023, 1:42 a.m.
Panel Version: 0.5399

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Segawa syndrome, recessive MIM#605407

Publications

History Filter Activity

18 Sep 2023, 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 Sep 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TH were changed from to Segawa syndrome, recessive MIM#605407

18 Sep 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TH were set to

18 Sep 2023, Gel status: 3

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

18 Sep 2023, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: TH.

22 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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: TH was set to Unknown