Likely inborn error of metabolism - targeted testing not possible
Gene: TH
Promoted from Amber to Green. This gene is associated with a relevant disease on OMIM and Gene2Phenotype and there is enough evidence to support a gene-disease association.
This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.Created: 8 Oct 2019, 3:45 p.m. | Last Modified: 8 Oct 2019, 3:45 p.m.
Panel Version: 1.346
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Segawa syndrome, recessive, 605407
Publications
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:04 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:04 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:04 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:02 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:02 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)Created: 6 Jan 2017, 2:02 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Parkinson Disease and Complex Parkinsonism
Tag treatable tag was added to gene: TH.
Publications for gene: TH were set to 27604308
Gene: th has been classified as Green List (High Evidence).
Source NHS GMS was added to TH. Source London North GLH was added to TH.
Sarah Leigh: Associated with relevant pheno
gene: TH was added gene: TH was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TH were set to 27604308 Phenotypes for gene: TH were set to Intellectual disability; Early onset dystonia; Tyrosine hydroxylase deficiency (Disorders of neurotransmitter metabolism, biogenic amines); Parkinson Disease and Complex Parkinsonism