Adult onset hereditary spastic paraplegia
Gene: OPA3EnsemblGeneIds (GRCh38): ENSG00000125741
EnsemblGeneIds (GRCh37): ENSG00000125741
OMIM: 606580, Gene2Phenotype
OPA3 is in 23 panels
3 reviews
Nick Beauchamp (Sheffield Diagnostic Genetics Service)
Childhood onset. Onset in second decade.Created: 9 May 2019, 6:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Louise Daugherty (Genomics England Curator)
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:50 p.m.
James Polke (Neurogenetics Laboratory, Institute of Neurology, London)
In 10 Iraqi Jewish patients from 8 different families with 3-methylglutaconic aciduria type III - 2 families with autosomal dominant optic atrophy and cataract, 1 with mild ataxic restlessness. occurs during infancy with a progressive decrease in visual acuity. The choreoathetoid movement disorder manifests later, usually within the first ten years of life. Other clinical features may include spastic paraparesis, mild ataxia and cognitive deficit, dysarthria, and nystagmus. Victoria: GREENCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type III, 258501; Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- Expert Review Green
- NHS GMS
- London North GLH
- Phenotypes
-
- 3-methylglutaconic aciduria, type III, 258501
- Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD
- OMIM
- 606580
- Clinvar variants
- Variants in OPA3
- Penetrance
- None
- Panels with this gene
-
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Optic neuropathy
- Intellectual disability
- Hyperammonaemia
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Parkinson Disease and Complex Parkinsonism
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Hereditary spastic paraplegia
- Structural eye disease
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Hereditary neuropathy or pain disorder
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to OPA3.
Added New Source, Set mode of inheritance, Set Phenotypes, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to OPA3. Mode of inheritance for gene OPA3 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD for gene: OPA3 Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to OPA3.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: OPA3 was added gene: OPA3 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: OPA3 was set to