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  3. AUH
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Leukodystrophy - paediatric

Gene: AUH

Green List (high evidence)
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)

Onset is typically in childhood, though presentation is variable so worth keeping on both paediatric and adult panels.
Sources: Expert list
Created: 27 Apr 2020, 3:43 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 27 Apr 2020, 3:43 a.m.

Panel version: 0.59

History Filter Activity

27 Apr 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 Apr 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 Apr 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AUH was added gene: AUH was added to Leukodystrophy - paediatric. Sources: Expert list 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 Review for gene: AUH was set to GREEN