Neurotransmitter disorders

Gene: TH

Green List (high evidence)

TH (tyrosine hydroxylase)
EnsemblGeneIds (GRCh38): ENSG00000180176
EnsemblGeneIds (GRCh37): ENSG00000180176
OMIM: 191290, Gene2Phenotype
TH is in 13 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: changed status to Green due to expert review and evidence in the literature to support the phenotype
Created: 25 May 2017, 5:32 p.m.
Added treatable tag. Clinical Genomic Database Comments (NIH/NHGRI): AR disease can have infantile onset, and treatment (eg, with L-dopa alone or combined with other medications), can be effective, though not has not been reported to be universally so
Created: 25 May 2017, 5:30 p.m.
Comment on publications: more than three unrelated families with Tyrosine Hydroxylase Deficiency
Created: 25 May 2017, 5:25 p.m.

Manju Kurian (UCL-Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Segawa syndrome, recessive, 605407
  • Tyrosine Hydroxylase Deficiency
  • DOPA-responsive dystonia
Tags
treatable
OMIM
191290
Clinvar variants
Variants in TH
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

25 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25th May 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.

25 May 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for TH were set to 27830117; 7814018; 9703425; 11246459; 21937992; 7814018; 17696123; 9732974; 8528210; 8817341; 10585338;

25 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for TH were set to 27830117; 7814018; 9703425; 11246459; 21937992;7814018 17696123; 9732974; 8528210; 8817341; 10585338;

25 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for TH were set to 27830117;7814018;9703425;11246459;21937992

25 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for TH were set to Segawa syndrome, recessive, 605407; Tyrosine Hydroxylase Deficiency; DOPA-responsive dystonia

25 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for TH were set to Segawa syndrome, recessive, 605407;Tyrosine Hydroxylase Deficiency

25 May 2017, Gel status: 0

Upload gene information

Louise Daugherty (Genomics England Curator)

TH was added to Neurotransmitter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN

1 Mar 2017, Gel status: 0

Created

Manju Kurian (UCL-Institute of Child Health)

TH was created by Manju

1 Mar 2017, Gel status: 0

Added New Source

Manju Kurian (UCL-Institute of Child Health)

TH was added to Neurotransmitter disorderspanel. Sources: Literature