Optic neuropathy
Gene: OPA3
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Autosomal Dominant Optic Atrophy; optic atrophy and cataracts; Optic atrophy 3 with cataract
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to GreenCreated: 13 Jul 2018, 4:22 p.m.
Comment on mode of inheritance: Added MOI from external expert reviewCreated: 13 Jul 2018, 4:21 p.m.
https://omim.org/entry/606580Created: 1 Jun 2018, 6:07 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications
Comment when marking as ready: Additional families reported in PMID: 25159689, which also reports that optic atrophy can be observed in isolation (from cataracts).Created: 6 Sep 2016, 2:24 p.m.
Source London North GLH was added to OPA3. Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for gene: OPA3 were set to 25159689; 26190011
Mode of inheritance for gene: OPA3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
13.09.2016: 'Inherited optic neuropathies' was removed as a relevant disorder from the Posterior segment abnormalities gene panel (version 1.9) and this panel was approved to live. It has been internally reviewed and revised based on evidence available for each gene, and was promoted to version 1 to be used for analysis.
This gene has been classified as Green List (High Evidence).
Phenotypes for OPA3 were set to Autosomal Dominant Optic Atrophy; optic atrophy and cataracts;Optic atrophy 3 with cataract
Phenotypes for OPA3 were set to Autosomal Dominant Optic Atrophy;optic atrophy and cataracts
Publications for OPA3 were set to 25159689
OPA3 was added to Inherited optic neuropathiespanel. Sources: Expert
OPA3 was added to Inherited optic neuropathies panel. Sources: Radboud University Medical Center, Nijmegen
OPA3 was added to Inherited optic neuropathies panel. Sources: Illumina TruGenome Clinical Sequencing Services
OPA3 was added to Inherited optic neuropathies panel. Sources: Emory Genetics Laboratory