Optic Atrophy

Gene: AUH

Amber List (moderate 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)

I don't know

Not a consistent feature of this mitochondrial disorder, only specifically reported in one individual.
Created: 9 Apr 2020, 6:43 a.m. | Last Modified: 9 Apr 2020, 6:43 a.m.
Panel Version: 0.37

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-methylglutaconic aciduria, type I 250950

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 20855850 - single patient w/ bilallelic missense. Paper reviews other patients (9), none had OA

PMID: 30143805 - no new patients

PMID: 31765440 - single patient w/ frameshift, no Fx. Patient was het only, no 2nd hit identified

PMID: 1594352 - fam described but no variants found

AMBER - only 1 convincing report
Created: 9 Apr 2020, 1:46 a.m. | Last Modified: 9 Apr 2020, 1:46 a.m.
Panel Version: 0.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

History Filter Activity

9 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: auh has been classified as Amber List (Moderate Evidence).

9 Apr 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Apr 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Apr 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AUH were set to 20855850; 30143805; 31765440; 1594352

9 Apr 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

9 Apr 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AUH were set to

9 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: auh has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AUH was added gene: AUH was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: AUH was set to Unknown