Possible mitochondrial disorder, nuclear genes
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
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type III, 258501; Optic atrophy 3 with cataract, 165300
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
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- 3-methylglutaconic aciduria, type III, 258501
- Optic atrophy 3 with cataract, 165300
- OMIM
- 606580
- Clinvar variants
- Variants in OPA3
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Parkinson Disease and Complex Parkinsonism
- Hereditary spastic paraplegia, adult onset
- Undiagnosed metabolic disorders
- Hyperammonaemia
- Hereditary ataxia
- Possible mitochondrial disorder, nuclear genes
- Hereditary spastic paraplegia, childhood onset
- Hereditary neuropathy or pain disorder
- Optic neuropathy
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary spastic paraplegia
- Hereditary neuropathy
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- Ataxia and cerebellar anomalies - childhood onset
- Neurodegenerative disorders, adult onset
- Hereditary ataxia, adult onset
- Glaucoma (developmental)
- Retinal disorders
- Mitochondrial disorders
History Filter Activity
4 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: OPA3 was added gene: OPA3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: OPA3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501; Optic atrophy 3 with cataract, 165300