Adult onset neurodegenerative disorder
Gene: AUHEnsemblGeneIds (GRCh38): ENSG00000148090
EnsemblGeneIds (GRCh37): ENSG00000148090
OMIM: 600529, Gene2Phenotype
AUH is in 14 panels
3 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia
Publications
Louise Daugherty (Genomics England Curator)
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.Created: 23 Apr 2019, 3:05 p.m.
Anthony Dallosso (Bristol Genetics Laboratory)
Gene causes MCGA1 3-methylglutaconic aciduria type I (OMIM :250950, ORPHA:67046) - green gene for multiple panels including Hyperammonaemia. Features of MCGA1 include Dystonia, Cerebellar ataxia, and Cognitive impairment.Created: 23 Apr 2019, 2:42 p.m.
Mode of inheritance
Unknown
Phenotypes
Dystonia
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- Expert Review Green
- NHS GMS
- South West GLH
- Phenotypes
-
- Dystonia
- OMIM
- 600529
- Clinvar variants
- Variants in AUH
- Penetrance
- None
- Publications
- 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 publications
Louise Daugherty (Genomics England Curator)Publications for gene AUH were changed from to 20855850
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to AUH.
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: AUH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: auh has been classified as Green List (High Evidence).
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.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Rebecca Foulger: Gene awaiting curator evaluati
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: AUH was added gene: AUH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red Mode of inheritance for gene: AUH was set to Unknown Phenotypes for gene: AUH were set to Dystonia