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Childhood onset dystonia, chorea or related movement disorder

Gene: AUH

Amber List (moderate evidence)
AUH (AU RNA binding methylglutaconyl-CoA hydratase)
EnsemblGeneIds (GRCh38): ENSG00000148090
EnsemblGeneIds (GRCh37): ENSG00000148090
OMIM: 600529, Gene2Phenotype
AUH is in 14 panels

4 reviews

Louise Daugherty (Genomics England Curator)

Confirmed 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
Created: 12 Dec 2019, 3:43 p.m.
Last Modified: 12 Dec 2019, 3:43 p.m.
Panel version: 0.258

Ellen McDonagh (Genomics England Curator)

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
Created: 6 Dec 2019, 5:15 p.m.
Last Modified: 6 Dec 2019, 5:15 p.m.
Panel version: 0.18

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Emily Jones (North Bristol NHS Trust)

I don't know

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
Created: 9 Jul 2019, 3:59 p.m.
Last Modified: 9 Jul 2019, 3:59 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-SWGLH panel version 0.10

History Filter Activity

6 Dec 2019, Gel status: 2

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: AUH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

6 Dec 2019, Gel status: 2

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: auh has been classified as Amber List (Moderate Evidence).

6 Dec 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

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