Neurotransmitter Defects

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

History Filter Activity

23 Aug 2020, 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 Aug 2020, 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

23 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TH were set to

23 Aug 2020, 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

17 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 Neurotransmitter Defect_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TH was set to Unknown