Optic neuropathy
Gene: OPA1The 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
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
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
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.
Publications for gene: OPA1 were set to 15531309; 16158427; 17306754; 18065439; 18158317; 19029523; 20417570; 20157015; 21636302; 25012220; 25146916
Tag Q2_22_MOI was removed from gene: OPA1.
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
Publications for gene: OPA1 were set to
Mode of inheritance for gene: OPA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
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
Tag Q2_22_MOI tag was added to gene: OPA1.
Source London North GLH was added to OPA1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Phenotypes for OPA1 were set to Optic atrophy 1 165500;Optic atrophy plus syndrome 125250
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).
OPA1 was added to Inherited optic neuropathiespanel. Sources: Expert
OPA1 was added to Inherited optic neuropathies panel. Sources: Radboud University Medical Center, Nijmegen
OPA1 was added to Inherited optic neuropathies panel. Sources: UKGTN
OPA1 was added to Inherited optic neuropathies panel. Sources: Emory Genetics Laboratory
OPA1 was added to Inherited optic neuropathies panel. Sources: Illumina TruGenome Clinical Sequencing Services