Adult onset neurodegenerative disorder
Gene: AUH
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Dystonia
Publications
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.
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
Publications for gene AUH were changed from to 20855850
Source Yorkshire and North East GLH was added to AUH.
Mode of inheritance for gene: AUH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: auh has been classified as Green List (High Evidence).
Source NHS GMS was added to AUH.
Source South West GLH was added to AUH.
Rebecca Foulger: Gene awaiting curator evaluati
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