Early onset dystonia
Gene: GCH1Comment on list classification: This is a confirmed DD gene for Dystonia Type 5. Multiple cases and different variants reported in OMIM for associations with Dystonia, DOPA-responsive, with or without hyperphenylalaninemia.Created: 23 Aug 2016, 2:09 p.m.
Is on the Complex Parkinson's Disease/Dystonia NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.Created: 10 Jun 2016, 8:55 a.m.
Comment on mode of inheritance: Source: OMIM.Created: 10 Jun 2016, 7:25 a.m.
Comment on list classification: Should remain green due to information within the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual for dystonia.Created: 10 Jun 2016, 7:24 a.m.
17th Oct 2016: Promoted to version 1. The panel was revised after expert input and internal discussion with the clinical team. Other panels such as hereditary ataxia or dementia may be applied in conjunction with this panel where appropriate for genome analysis.
This gene has been classified as Green List (High Evidence).
Phenotypes for GCH1 were set to Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Hyperphenylalaninemia, BH4-deficient, B, 233910; Dopa-Responsive Dystonia (DRD)
Mode of inheritance for GCH1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for GCH1 were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/
Mode of inheritance for GCH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Model of inheritance for gene GCH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene GCH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene GCH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene GCH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene GCH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene GCH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene GCH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene GCH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene GCH1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
GCH1 was added to Early onset dystoniapanel. Sources: Expert
GCH1 was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory
GCH1 was added to Early onset dystoniapanel. Sources: Illumina TruGenome Clinical Sequencing Services
GCH1 was added to Early onset dystoniapanel. Sources: UKGTN
GCH1 was added to Early onset dystoniapanel. Sources: Radboud University Medical Center, Nijmegen