Ataxia and cerebellar anomalies - narrow panel
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
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Costeff syndrome
- 3-methylglutaconic aciduria, type III, 258501
- OMIM
- 606580
- Clinvar variants
- Variants in OPA3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Bilateral congenital or childhood onset cataracts
- Undiagnosed metabolic disorders
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Optic neuropathy
- Structural eye disease
- Hyperammonaemia
- Adult onset neurodegenerative disorder
- Ataxia and cerebellar anomalies - narrow panel
- Likely inborn error of metabolism
- Childhood onset hereditary spastic paraplegia
- Mitochondrial disorders
- Parkinson Disease and Complex Parkinsonism
- Hereditary ataxia with onset in adulthood
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Possible mitochondrial disorder - nuclear genes
- Glaucoma (developmental)
History Filter Activity
9 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Checked against super panel made up of the panel constituents. Ready to promote to version 1.
19 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: OPA3 was added gene: OPA3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OPA3 were set to 25201222; 25657044; 11668429; 20301646; 24944951 Phenotypes for gene: OPA3 were set to Costeff syndrome; 3-methylglutaconic aciduria, type III, 258501