Mitochondrial disorders
Gene: OPA1

OPA1 (OPA1, mitochondrial dynamin like GTPase)
EnsemblGeneIds (GRCh38): ENSG00000198836
EnsemblGeneIds (GRCh37): ENSG00000198836
OMIM: 605290, Gene2Phenotype
OPA1 is in 17 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Disorders of mitochondrial DNA maintenance and integrity;{Glaucoma, normal tension, susceptibility to}, 606657
Created: 28 Apr 2021, 11:08 a.m. | Last Modified: 28 Apr 2021, 11:08 a.m.

Panel Version: 2.34

Created: 28 Apr 2021, 11:08 a.m.
Last Modified: 28 Apr 2021, 11:08 a.m.
Panel version: 2.34

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:38 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Sourced from reviewer.
Created: 10 Feb 2016, 9:23 a.m.

Comment on list classification: Both reviewers agree this should be promoted from amber.
Created: 10 Feb 2016, 9:23 a.m.

Created: 10 Feb 2016, 9:23 a.m.

Panel version: 0.81

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:30 a.m.

Panel version: 0.37

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Victorian Clinical Genetics Services
Expert Review Green
Expert
Expert list
Radboud University Medical Center, Nijmegen
UKGTN

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

History Filter Activity

12 Apr 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: OPA1 were changed from ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) OMIM:616896; mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) MONDO:0014820; Optic atrophy 1 OMIM:165500; autosomal dominant optic atrophy, classic form MONDO:0008134; Optic atrophy plus syndrome OMIM:125250; optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429; Behr syndrome OMIM:210000; Behr syndrome MONDO:0008858 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

28 Apr 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: OPA1 were changed from Disorders of mitochondrial DNA maintenance and integrity; Optic atrophy 1, 165500; {Glaucoma, normal tension, susceptibility to}, 606657; Optic atrophy plus syndrome, 125250; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions; Optic atrophy 1, 165500 to ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) OMIM:616896; mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) MONDO:0014820; Optic atrophy 1 OMIM:165500; autosomal dominant optic atrophy, classic form MONDO:0008134; Optic atrophy plus syndrome OMIM:125250; optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy MONDO:0007429; Behr syndrome OMIM:210000; Behr syndrome MONDO:0008858

28 Apr 2021, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: OPA1 were set to

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to OPA1. Panel: Mitochondrial disorders

10 Feb 2016, Gel status: 4