Adult onset dystonia, chorea or related movement disorder
Gene: AUHEnsemblGeneIds (GRCh38): ENSG00000148090
EnsemblGeneIds (GRCh37): ENSG00000148090
OMIM: 600529, Gene2Phenotype
AUH is in 14 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating from Emily Jones (North Bristol NHS Trust) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 12:18 p.m.
Emily Jones (North Bristol NHS Trust)
Dystonia is a feature of syndrome.May be appropriate to include following clinical input.Created: 23 Apr 2019, 12:14 p.m.
Phenotypes
3-methylglutaconic aciduria, type I, 250950
Details
- Sources
-
- Expert Review Amber
- NHS GMS
- South West GLH
- Phenotypes
-
- 3-methylglutaconic aciduria, type I, OMIM:250950
- Dystonia
- OMIM
- 600529
- Clinvar variants
- Variants in AUH
- Penetrance
- None
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- White matter disorders and cerebral calcification - narrow panel
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- DDG2P
- Optic neuropathy
- Intellectual disability
- Adult onset leukodystrophy
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: AUH were changed from 3-methylglutaconic aciduria, type I, 250950; Dystonia to 3-methylglutaconic aciduria, type I, OMIM:250950; Dystonia
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: auh has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes 3-methylglutaconic aciduria, type I, 250950 for gene: AUH
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to AUH.
Added New Source
Louise Daugherty (Genomics England Curator)Source South West GLH was added to AUH.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: AUH was added gene: AUH was added to Adult onset movement disorder. Sources: Expert Review Red Mode of inheritance for gene: AUH was set to Phenotypes for gene: AUH were set to Dystonia