Optic Atrophy
Gene: AUH
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
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 reportCreated: 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
Gene: auh has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: AUH were changed from 3-methylglutaconic aciduria, type I, MIM# 250950 to 3-methylglutaconic aciduria, type I, MIM# 250950
Phenotypes for gene: AUH were changed from to 3-methylglutaconic aciduria, type I, MIM# 250950
Publications for gene: AUH were set to 20855850; 30143805; 31765440; 1594352
Mode of inheritance for gene: AUH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AUH were set to
Gene: auh has been classified as Amber List (Moderate Evidence).
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