Optic neuropathy
Gene: OPA1EnsemblGeneIds (GRCh38): ENSG00000198836
EnsemblGeneIds (GRCh37): ENSG00000198836
OMIM: 605290, Gene2Phenotype
OPA1 is in 17 panels
4 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 1:02 p.m. | Last Modified: 30 Jan 2023, 1:02 p.m.
Panel Version: 3.7
Arina Puzriakova (Genomics England Curator)
Comment on mode of inheritance: Should be updated from 'monoallelic' only to 'both mono- and biallelic' at the next GMS panel update. Biallelic variants cause Behr syndrome (MIM# 210000) in which early-onset optic atrophy is a main clinical feature of the phenotype (PMID: 20157015; 21636302; 25012220; 25146916). Sufficient cases have been reported to rate as green for both inheritance patterns.Created: 13 Apr 2022, 9:36 a.m. | Last Modified: 13 Apr 2022, 9:36 a.m.
Panel Version: 2.66
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Optic atrophy 1 165500; Optic atrophy plus syndrome 125250
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Muliple cases/family reports in patients with Optic atrophy 1, for different variants, reported in OMIM.Created: 6 Sep 2016, 2:08 p.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Optic atrophy 1, OMIM:165500
- Optic atrophy plus syndrome, OMIM:125250
- Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896
- Behr syndrome, OMIM:210000
- OMIM
- 605290
- Clinvar variants
- Variants in OPA1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- Optic neuropathy
- Auditory Neuropathy Spectrum Disorde
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Structural eye disease
- Monogenic hearing loss
- Hereditary neuropathy or pain disorder
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set publications
Achchuthan Shanmugasundram (Genomics England Curator)Publications for gene: OPA1 were set to 15531309; 16158427; 17306754; 18065439; 18158317; 19029523; 20417570; 20157015; 21636302; 25012220; 25146916
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q2_22_MOI was removed from gene: OPA1.
Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)Source NHS GMS was added to OPA1. Mode of inheritance for gene OPA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: OPA1 were set to
Set mode of inheritance
Arina Puzriakova (Genomics England Curator)Mode of inheritance for gene: OPA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: OPA1 were changed from Optic atrophy 1, OMIM:165500; Optic atrophy plus syndrome, OMIM:125250; Behr syndrome, OMIM:210000 to Optic atrophy 1, OMIM:165500; Optic atrophy plus syndrome, OMIM:125250; Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), OMIM:616896; Behr syndrome, OMIM:210000
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: OPA1 were changed from Optic atrophy 1 165500; Optic atrophy plus syndrome 125250 to Optic atrophy 1, OMIM:165500; Optic atrophy plus syndrome, OMIM:125250; Behr syndrome, OMIM:210000
Added Tag
Arina Puzriakova (Genomics England Curator)Tag Q2_22_MOI tag was added to gene: OPA1.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source London North GLH was added to OPA1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for OPA1 were set to Optic atrophy 1 165500;Optic atrophy plus syndrome 125250
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.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Augusto Rendon (Genomics England)OPA1 was added to Inherited optic neuropathiespanel. Sources: Expert
Added New Source
GEL ()OPA1 was added to Inherited optic neuropathies panel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()OPA1 was added to Inherited optic neuropathies panel. Sources: UKGTN
Added New Source
GEL ()OPA1 was added to Inherited optic neuropathies panel. Sources: Emory Genetics Laboratory
Added New Source
GEL ()OPA1 was added to Inherited optic neuropathies panel. Sources: Illumina TruGenome Clinical Sequencing Services