Dystonia - complex
Gene: OPA3EnsemblGeneIds (GRCh38): ENSG00000125741
EnsemblGeneIds (GRCh37): ENSG00000125741
OMIM: 606580, Gene2Phenotype
OPA3 is in 19 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Neuroophthalmologic syndrome consisting of early-onset bilateral optic atrophy and later-onset spasticity, extrapyramidal dysfunction (including dystonia and chorea), and cognitive deficit. Urinary excretion of 3-methylglutaconic acid and of 3-methylglutaric acid is increased. Multiple families reported.Created: 9 Sep 2020, 5:12 a.m. | Last Modified: 9 Sep 2020, 5:12 a.m.
Panel Version: 0.123
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type III, MIM# 258501
Publications
Eunice Chan (Royal Children's Hospital)
Costeff syndrome, most patients are Iraqi-Jewish ancestry
Sources: Expert listCreated: 9 Sep 2020, 2:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
developmental delay, hypotonia; dystonia and chorea; ataxia, optic atrophy; spastic paraplegia
Publications
- PMID: 20301646
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- 3-methylglutaconic aciduria, type III, MIM# 258501
- developmental delay, hypotonia
- dystonia and chorea
- ataxia, optic atrophy
- spastic paraplegia
- OMIM
- 606580
- Clinvar variants
- Variants in OPA3
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Hereditary Neuropathy - complex
- Gastrointestinal neuromuscular disease
- Optic Atrophy
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Early-onset Parkinson disease
- Aminoacidopathy
- Hereditary Spastic Paraplegia - adult onset
- Additional findings_Paediatric
- Dystonia - complex
- Mendeliome
- Cataract
- Syndromic Retinopathy
- Prepair 500+
- Hereditary Spastic Paraplegia - paediatric
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: opa3 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: OPA3 were changed from developmental delay, hypotonia; dystonia and chorea; ataxia, optic atrophy; spastic paraplegia to 3-methylglutaconic aciduria, type III, MIM# 258501; developmental delay, hypotonia; dystonia and chorea; ataxia, optic atrophy; spastic paraplegia
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: OPA3 were set to PMID: 20301646
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: opa3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eunice Chan (Royal Children's Hospital)gene: OPA3 was added gene: OPA3 was added to Dystonia - complex. Sources: Expert list Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OPA3 were set to PMID: 20301646 Phenotypes for gene: OPA3 were set to developmental delay, hypotonia; dystonia and chorea; ataxia, optic atrophy; spastic paraplegia