Optic neuropathy

Gene: OPA3

Green List (high evidence)

OPA3 (OPA3, outer mitochondrial membrane lipid metabolism regulator)
EnsemblGeneIds (GRCh38): ENSG00000125741
EnsemblGeneIds (GRCh37): ENSG00000125741
OMIM: 606580, Gene2Phenotype
OPA3 is in 24 panels

4 reviews

Tom Cullup (Great Ormond Street Hospital)

Green List (high evidence)

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

Louise Daugherty (Genomics England Curator)

Comment on publications: Added publications suggested from external expert review to support upgrading of the gene to Green
Created: 13 Jul 2018, 4:22 p.m.
Comment on mode of inheritance: Added MOI from external expert review
Created: 13 Jul 2018, 4:21 p.m.

Panagiotis Sergouniotis (Academic Clinic Fellow)

Green List (high evidence)

https://omim.org/entry/606580
Created: 1 Jun 2018, 6:07 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Ellen McDonagh (Genomics England Curator)

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.

History Filter Activity

19 Mar 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source London North GLH was added to OPA3. Rating Changed from Green List (high evidence) to Green List (high evidence)

13 Jul 2018, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: OPA3 were set to 25159689; 26190011

13 Jul 2018, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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 Sep 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

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.

6 Sep 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Sep 2016, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for OPA3 were set to Autosomal Dominant Optic Atrophy; optic atrophy and cataracts;Optic atrophy 3 with cataract

6 Sep 2016, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for OPA3 were set to Autosomal Dominant Optic Atrophy;optic atrophy and cataracts

6 Sep 2016, Gel status: 3

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for OPA3 were set to 25159689

8 Jun 2015, Gel status: 3

Added New Source

Augusto Rendon (Genomics England)

OPA3 was added to Inherited optic neuropathiespanel. Sources: Expert

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

OPA3 was added to Inherited optic neuropathies    panel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

OPA3 was added to Inherited optic neuropathies    panel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

OPA3 was added to Inherited optic neuropathies    panel. Sources: Emory Genetics Laboratory