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Fetal anomalies

Gene: AUH

Red List (low 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)

Red List (low evidence)

Onset in childhood or later.
Created: 29 Dec 2021, 9:14 p.m. | Last Modified: 29 Dec 2021, 9:14 p.m.
Panel Version: 0.1641

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

History Filter Activity

29 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: auh has been classified as Red List (Low Evidence).

29 Dec 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: AUH were changed from 3-METHYLGLUTACONIC ACIDURIA TYPE 1 to 3-methylglutaconic aciduria, type I, MIM# 250950

24 Oct 2021, 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 Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp 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