Dystonia - complex
Gene: AUH

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Dystonia is a feature of the adult-onset progressive neurodegenerative disorder associated with this gene.
Created: 5 Sep 2020, 4:09 a.m. | Last Modified: 5 Sep 2020, 4:09 a.m.

Panel Version: 0.78

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-methylglutaconic aciduria, type I, MIM# 250950

Created: 5 Sep 2020, 4:09 a.m.
Last Modified: 5 Sep 2020, 4:09 a.m.
Panel version: 0.78

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

3-Methylglutaconic aciduria type 1
Dystonia

OMIM

600529

Clinvar variants

Variants in AUH

Penetrance

None

Panels with this gene

History Filter Activity

5 Sep 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: auh has been classified as Green List (High Evidence).

27 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: AUH was added gene: AUH was added to Dystonia - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AUH were set to 3-Methylglutaconic aciduria type 1; Dystonia

Dystonia - complex Gene: AUH