Leukodystrophy - adult onset
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
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Onset is typically in childhood, though presentation is variable so worth keeping on both paediatric and adult panels. Specifically, two individuals with late onset disease including leukodystrophy reported.Created: 27 Apr 2020, 3:42 a.m. | Last Modified: 27 Apr 2020, 6:21 a.m.
Panel Version: 0.27
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type I, MIM# 250950
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- 3-methylglutaconic aciduria, type I, MIM#250950
- OMIM
- 600529
- Clinvar variants
- Variants in AUH
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Aminoacidopathy
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Prepair 1000+
- Dystonia - complex
- Optic Atrophy
- Mendeliome
- BabyScreen+ newborn screening
- Hyperammonaemia
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
History Filter Activity
3 May 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).
3 May 2020, Gel status: 3
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: AUH were set to
30 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 Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I, MIM#250950