Bilateral congenital or childhood onset cataracts
Gene: OPA3EnsemblGeneIds (GRCh38): ENSG00000125741
EnsemblGeneIds (GRCh37): ENSG00000125741
OMIM: 606580, Gene2Phenotype
OPA3 is in 23 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
Phenotypes
3-methylglutaconic aciduria, type III, 258501
Publications
- Reynier et al (2004) J Med genet 41:e110
- Grau et al (2013) J Med Genet 50:848-858
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted to green due to expert review.Created: 31 May 2016, 10:22 a.m.
Is on the Manchester congenital cataracts gene panel. Not associated with a phenotype in G2P. Associated with Optic atrophy 3 with cataract in OMIM with an AD mode of inheritance. 2 families reported in OMIM.Created: 25 Apr 2016, 9:48 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- 3-methylglutaconic aciduria, type III, 258501
- autosomal dominant optic atrophy with cataract (ADOAC)
- OMIM
- 606580
- Clinvar variants
- Variants in OPA3
- Penetrance
- Complete
- Publications
-
- Reynier et al (2004) J Med genet 41:e110
- Grau et al (2013) J Med Genet 50:848-858
- Panels with this gene
-
- Parkinson Disease and Complex Parkinsonism
- Intellectual disability
- Hereditary spastic paraplegia, adult onset
- Bilateral congenital or childhood onset cataracts
- Undiagnosed metabolic disorders
- Hyperammonaemia
- Hereditary ataxia
- Ataxia and cerebellar anomalies - childhood onset
- Retinal disorders
- Likely inborn error of metabolism
- Hereditary spastic paraplegia, childhood onset
- Optic neuropathy
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary spastic paraplegia
- Hereditary neuropathy
- Structural eye disease
- Hereditary neuropathy or pain disorder
- Neurodegenerative disorders, adult onset
- Hereditary ataxia, adult onset
- Glaucoma (developmental)
- Possible mitochondrial disorder, nuclear genes
- Mitochondrial disorders
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for OPA3 were set to Reynier et al (2004) J Med genet 41:e110; Grau et al (2013) J Med Genet 50:848-858
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for OPA3 were set to 3-methylglutaconic aciduria, type III, 258501; autosomal dominant optic atrophy with cataract (ADOAC)
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for OPA3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
GEL ()OPA3 was added to Cataractspanel. Sources: UKGTN
Added New Source
GEL ()OPA3 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen