Early onset dystonia
Gene: AUH
AUH (AU RNA binding methylglutaconyl-CoA hydratase)
EnsemblGeneIds (GRCh38): ENSG00000148090
EnsemblGeneIds (GRCh37): ENSG00000148090
OMIM: 600529, Gene2Phenotype
AUH is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000148090
EnsemblGeneIds (GRCh37): ENSG00000148090
OMIM: 600529, Gene2Phenotype
AUH is in 14 panels
0 reviews
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Dystonia
- OMIM
- 600529
- Clinvar variants
- Variants in AUH
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- White matter disorders and cerebral calcification - childhood onset
- Hereditary ataxia, adult onset
- Likely inborn error of metabolism
- Neurodegenerative disorders, adult onset
- Early onset dystonia
- Optic neuropathy
- Fetal anomalies
- Dystonia, chorea or related movement disorder, adult onset
- Leukodystrophy, adult onset
- Undiagnosed metabolic disorders
- DDG2P
- Hyperammonaemia
- Dystonia, chorea or related movement disorder, childhood onset
History Filter Activity
17 Oct 2016, Gel status: 1
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)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.
28 Apr 2015, Gel status: 1
Added New Source
GEL ()AUH was added to Early onset dystoniapanel. Sources: Emory Genetics Laboratory