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