Hereditary ataxia
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
1 review
Louise Daugherty (Genomics England Curator)
Added to Hereditary ataxia panel on advice from internal clinical team due to review of the Intellectual disability panelCreated: 1 Nov 2017, 12:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type III, 258501; Costeff syndrome
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Literature
- Expert Review Green
- Other
- Phenotypes
-
- 3-methylglutaconic aciduria, type III, 258501
- Costeff syndrome
- OMIM
- 606580
- Clinvar variants
- Variants in OPA3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Hereditary neuropathy or pain disorder
- Intellectual disability
- 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
- Parkinson Disease and Complex Parkinsonism
- 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
- Glaucoma (developmental)
- Adult onset dystonia, chorea or related movement disorder
- Structural eye disease
History Filter Activity
1 Nov 2017, Gel status: 4
Upload gene information
Louise Daugherty (Genomics England Curator)OPA3 was added to Hereditary ataxiapanel. Sources: Literature
1 Nov 2017, Gel status: 4
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
1 Nov 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)OPA3 was created by LouiseD
1 Nov 2017, Gel status: 0
Added New Source
Louise Daugherty (Genomics England Curator)OPA3 was added to Hereditary ataxiapanel. Sources: Other