Neurotransmitter disorders
Gene: THComment on list classification: changed status to Green due to expert review and evidence in the literature to support the phenotypeCreated: 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 soCreated: 25 May 2017, 5:30 p.m.
Comment on publications: more than three unrelated families with Tyrosine Hydroxylase DeficiencyCreated: 25 May 2017, 5:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
25th May 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.
This gene has been classified as Green List (High Evidence).
Publications for TH were set to 27830117; 7814018; 9703425; 11246459; 21937992; 7814018; 17696123; 9732974; 8528210; 8817341; 10585338;
Publications for TH were set to 27830117; 7814018; 9703425; 11246459; 21937992;7814018 17696123; 9732974; 8528210; 8817341; 10585338;
Publications for TH were set to 27830117;7814018;9703425;11246459;21937992
Phenotypes for TH were set to Segawa syndrome, recessive, 605407; Tyrosine Hydroxylase Deficiency; DOPA-responsive dystonia
Phenotypes for TH were set to Segawa syndrome, recessive, 605407;Tyrosine Hydroxylase Deficiency
TH was added to Neurotransmitter disorderspanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN
TH was created by Manju
TH was added to Neurotransmitter disorderspanel. Sources: Literature