This Panel is marked as Deleted
Mitochondrial disorders Victorian Clinical Genetics Services
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
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Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 606580
- Clinvar variants
- Variants in OPA3
- Penetrance
- None
- Panels with this gene
-
- Adult onset neurodegenerative disorder
- Retinal disorders
- Undiagnosed metabolic disorders
- Intellectual disability
- Hyperammonaemia
- Hereditary neuropathy or pain disorder
- Childhood onset dystonia, chorea or related movement disorder
- Optic neuropathy
- Structural eye disease
- Parkinson Disease and Complex Parkinsonism
- Childhood onset hereditary spastic paraplegia
- Mitochondrial disorders
- Hereditary ataxia with onset in adulthood
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Bilateral congenital or childhood onset cataracts
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Glaucoma (developmental)
- Possible mitochondrial disorder - nuclear genes
- Likely inborn error of metabolism
- Hereditary neuropathy
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)OPA3 was added to Mitochondrial disorders Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
12 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)OPA3 was created by Sarah Leigh