Mitochondrial disorders
Gene: OPA3
OPA3 (OPA3, outer mitochondrial membrane lipid metabolism regulator)
EnsemblGeneIds (GRCh38): ENSG00000125741
EnsemblGeneIds (GRCh37): ENSG00000125741
OMIM: 606580, Gene2Phenotype
OPA3 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000125741
EnsemblGeneIds (GRCh37): ENSG00000125741
OMIM: 606580, Gene2Phenotype
OPA3 is in 23 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of inheritance: 3-methylglutaconic aciduria, type III = biallelic, Optic atrophy 3 with cataract is monoallelic.Created: 7 Mar 2016, 6:11 p.m.
Comment on list classification: Carl Fratter also confirmed this gene should be promoted from red to green.Created: 7 Mar 2016, 6:10 p.m.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300
- OMIM
- 606580
- Clinvar variants
- Variants in OPA3
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Hereditary ataxia with onset in adulthood
- Likely inborn error of metabolism
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Hyperammonaemia
- Hereditary ataxia
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy
- Optic neuropathy
- Mitochondrial disorders
- Adult onset hereditary spastic paraplegia
- Hereditary spastic paraplegia
- Bilateral congenital or childhood onset cataracts
- Adult onset neurodegenerative disorder
- Childhood onset hereditary spastic paraplegia
- Retinal disorders
- Parkinson Disease and Complex Parkinsonism
- Glaucoma (developmental)
- Adult onset dystonia, chorea or related movement disorder
- Structural eye disease
History Filter Activity
28 Aug 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to OPA3. Panel: Mitochondrial disorders
7 Mar 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).
7 Mar 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for OPA3 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
7 Mar 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).
30 Jun 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)OPA3 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Radboud University Medical Center, Nijmegen