Childhood onset dystonia, chorea or related movement disorder
Gene: AUHConfirmed Amber rating - as per recommendation from Specialist Test Group (via Robyn Labrum LNGLH) 12 December 2019. Inborn error of metabolism, two main presentations have been described: 1 with onset in childhood associated with the nonspecific finding of psychomotor retardation, and the other with onset in adulthood of a progressive neurodegenerative disorder characterized by ataxia, spasticity, and sometimes dementia. ? on adult panel as movement disorder is part of adult onset phenotype.Created: 12 Dec 2019, 3:43 p.m. | Last Modified: 12 Dec 2019, 3:43 p.m.
Panel Version: 0.258
Comment on list classification: Promoted from Red to Amber due to review from North Bristol NHS Trust (South West GLH). Clinical input required to decide whether this is appropriate to include and to make this Green.Created: 6 Dec 2019, 5:15 p.m. | Last Modified: 6 Dec 2019, 5:15 p.m.
Panel Version: 0.18
Dystonia is a feature of syndrome.May be appropriate to include following clinical input.Created: 9 Jul 2019, 3:59 p.m. | Last Modified: 9 Jul 2019, 3:59 p.m.
Panel Version: 0.10
Mode of inheritance for gene: AUH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: auh has been classified as Amber List (Moderate Evidence).
Source South West GLH was added to AUH. Mode of inheritance for gene AUH was changed from to Unknown Added phenotypes 3-methylglutaconic aciduria, type I, 250950 for gene: AUH
gene: AUH was added gene: AUH was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: AUH was set to