Optic Atrophy
Gene: OPA3
Mutations in OPA3 can impart distinct phenotypes carried through dominant or recessive inheritance patterns but with the common universal feature of optic atrophy, underscoring the critical and susceptible role of mitochondrial health in optic nerve function (PMID: 31928268).
Intra- and interfamilial variability in age of onset and presenting symptoms was observed (PMID: 25159689).
Loss of function is a known mechanism of disease in this gene and is associated with 3-methylglutaconic aciduria, type III (MIM#258501) (PMID: 31928268). The precise mechanism for missense is unknown, however it was suggested they could cause dominant Optic atrophy 3 with cataract (MIM#165300) through either dominant negative or gain of function mechanism (PMID: 31119193).
Two transcripts: transcript variant 2 (exon 1 plus exon 2 [NM_025136.3]) and transcript variant 1 (exon 1 plus exon 3 [NM_001017989.2]), where transcript 2 is the predominant one in most tissues.Created: 27 Jan 2021, 12:21 a.m. | Last Modified: 27 Jan 2021, 12:21 a.m.
Panel Version: 0.117
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR; Optic atrophy 3 with cataract (MIM#165300), AD
Publications
Mode of pathogenicity
Other
Gene: opa3 has been classified as Green List (High Evidence).
Phenotypes for gene: OPA3 were changed from to 3-methylglutaconic aciduria, type III (MGA3) (MIM#258501), AR; Optic atrophy 3 with cataract (MIM#165300), AD
Publications for gene: OPA3 were set to
Mode of pathogenicity for gene: OPA3 was changed from to Other
Mode of inheritance for gene: OPA3 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
gene: OPA3 was added gene: OPA3 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: OPA3 was set to Unknown