Optic neuropathy

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 15 panels

1 review

Tom Cullup (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-METHYLGLUTACONIC ACIDURIA, TYPE I, 250950

History Filter Activity

19 Mar 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: AUH were changed from to 3-METHYLGLUTACONIC ACIDURIA, TYPE I, 250950

19 Mar 2019, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: AUH was changed from to BIALLELIC, autosomal or pseudoautosomal

19 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: AUH was added gene: AUH was added to Optic neuropathy. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: AUH was set to