Hereditary ataxia with onset in adulthood
Gene: AUHEnsemblGeneIds (GRCh38): ENSG00000148090
EnsemblGeneIds (GRCh37): ENSG00000148090
OMIM: 600529, Gene2Phenotype
AUH is in 14 panels
3 reviews
Sarah Leigh (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.
Panel Version: 2.144
Ivone Leong (Genomics England Curator)
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. The age of onset is between 1 to 52 years of age. Childhood onset patients have psychomotor retardation and white matter changes. There are 3 cases of adult onset of this phenotype. Patients presented with ataxia (3/3), dementia (2/3) and spasticity (2/3) and all had white matter changes. This gene should be rated Green at the next review.Created: 23 Jun 2021, 12:21 p.m. | Last Modified: 23 Jun 2021, 12:21 p.m.
Panel Version: 1.21
Zornitza Stark (Australian Genomics)
Onset is typically in childhood, though presentation is variable so we have this gene on both paediatric and adult panels. Specifically, two individuals with late onset disease including leukodystrophy reported.
Sources: Expert listCreated: 21 Jun 2020, 6:13 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type I, MIM# 250950
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- 3-methylglutaconic aciduria, type I, OMIM:250950
- OMIM
- 600529
- Clinvar variants
- Variants in AUH
- Penetrance
- None
- Publications
- Panels with this gene
-
- DDG2P
- Optic neuropathy
- Adult onset leukodystrophy
- Hyperammonaemia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- White matter disorders and cerebral calcification - narrow panel
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating was removed from gene: AUH.
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Green was added to AUH. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: AUH was added gene: AUH was added to Hereditary ataxia - adult onset. Sources: Expert list,Expert Review Amber Q2_21_rating tags were added to gene: AUH. Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AUH were set to 20855850; 17130438 Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I, OMIM:250950