This Panel is marked as Deleted
Mitochondrial disorders AD Victorian Clinical Genetics Services
Gene: OPA1
OPA1 (OPA1, mitochondrial dynamin like GTPase)
EnsemblGeneIds (GRCh38): ENSG00000198836
EnsemblGeneIds (GRCh37): ENSG00000198836
OMIM: 605290, Gene2Phenotype
OPA1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000198836
EnsemblGeneIds (GRCh37): ENSG00000198836
OMIM: 605290, Gene2Phenotype
OPA1 is in 17 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 605290
- Clinvar variants
- Variants in OPA1
- Penetrance
- None
- Panels with this gene
-
- Monogenic hearing loss
- Mitochondrial DNA maintenance disorder
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Structural eye disease
- Ataxia and cerebellar anomalies - narrow panel
- Optic neuropathy
- Auditory Neuropathy Spectrum Disorde
- Mitochondrial disorders
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy or pain disorder
- Glaucoma (developmental)
- Hereditary neuropathy
History Filter Activity
12 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)OPA1 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)OPA1 was created by Sarah Leigh