Childhood onset hereditary spastic paraplegia
Gene: OPA3EnsemblGeneIds (GRCh38): ENSG00000125741
EnsemblGeneIds (GRCh37): ENSG00000125741
OMIM: 606580, Gene2Phenotype
OPA3 is in 23 panels
4 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)
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 4:54 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: 28 Apr 2019, 4:16 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
Arianna Tucci (Genomics England Curator)
MGCA3: Onset of neurologic features occur later in childhoodCreated: 14 Jan 2019, 5:17 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- London North GLH
- Literature
- Expert Review Green
- Other
- Phenotypes
-
- 3-methylglutaconic aciduria, type III, 258501
- Costeff syndrome
- OMIM
- 606580
- Clinvar variants
- Variants in OPA3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Retinal disorders
- Optic neuropathy
- Hyperammonaemia
- Adult onset neurodegenerative disorder
- Bilateral congenital or childhood onset cataracts
- 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
- Intellectual disability
- 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
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to OPA3.
Added New Source
Louise Daugherty (Genomics England Curator)Source London North GLH was added to OPA3.
Set Phenotypes, Set publications
Louise Daugherty (Genomics England Curator)Added phenotypes 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome for gene: OPA3 Publications for gene OPA3 were changed from 25201222; 11668429; 20301646; 24944951; 25657044 to 11668429; 24944951; 25201222; 25657044; 20301646
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Arianna Tucci: MGCA3: Onset of neurologic fea
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sarah Leigh (Genomics England Curator)gene: OPA3 was added gene: OPA3 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Green,Literature Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OPA3 were set to 25201222; 11668429; 20301646; 24944951; 25657044 Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome