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Prepair 1000+

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

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association. Broad phenotypic spectrum divided into 3 clinical phenotypes. (1) TH-deficient dopa-responsive dystonia (the mild form of TH deficiency), (2) TH-deficient infantile parkinsonism with motor delay (the severe form), and (3) TH-deficient progressive infantile encephalopathy (the very severe form). Onset in infancy or early childhood
Created: 22 Jul 2022, 2:54 a.m. | Last Modified: 22 Jul 2022, 2:54 a.m.
Panel Version: 0.61

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Segawa syndrome, recessive (MIM#605407)

History Filter Activity

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Segawa syndrome, recessive, MIM# 605407 for gene: TH

26 Jul 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).

26 Jul 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TH were changed from Segawa syndrome, recessive, 605407 (3) to Segawa syndrome, recessive, MIM# 605407

1 Jun 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TH were set to Segawa syndrome, recessive, 605407 (3)