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BabyScreen+ newborn screening

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Well established gene-disease association.

No specific treatment.
Created: 5 Oct 2022, 8:02 a.m. | Last Modified: 5 Oct 2022, 8:02 a.m.
Panel Version: 0.284

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-methylglutaconic aciduria, type I 250950

Created: 5 Oct 2022, 8:02 a.m.
Last Modified: 5 Oct 2022, 8:02 a.m.
Panel version: 0.284

John Christodoulou (Murdoch Children's Research Institute)

Red List (low evidence)

It has been speculated that dietary modifications may be of benefit, but there is no reliable evidence to support this.
Created: 27 Sep 2022, 7:35 a.m. | Last Modified: 27 Sep 2022, 7:35 a.m.
Panel Version: 0.266

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 27 Sep 2022, 7:35 a.m.
Last Modified: 27 Sep 2022, 7:35 a.m.
Panel version: 0.266

History Filter Activity

5 Oct 2022, 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).

5 Oct 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

5 Oct 2022, 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).

18 Sep 2022, Gel status: 3

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 gNBS. Sources: BabySeq Category A gene,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 I