Structural eye disease
Gene: OPA3EnsemblGeneIds (GRCh38): ENSG00000125741
EnsemblGeneIds (GRCh37): ENSG00000125741
OMIM: 606580, Gene2Phenotype
OPA3 is in 23 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
optic atrophy/cataract but no evidence of structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Optic atrophy 3 with cataract; 165300
Mode of pathogenicity
Other - please provide details in the comments
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). optic atrophy/cataract but no evidence of structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Optic atrophy 3 with cataract, 165300
Mode of pathogenicity
Other - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Optic atrophy 3 with cataract, 165300
- Eye Disorders
- OMIM
- 606580
- Clinvar variants
- Variants in OPA3
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Optic neuropathy
- Structural eye disease
- Likely inborn error of metabolism
- Hyperammonaemia
- Ataxia and cerebellar anomalies - narrow panel
- Adult onset neurodegenerative disorder
- Mitochondrial disorders
- Parkinson Disease and Complex Parkinsonism
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Hereditary spastic paraplegia
- Adult onset dystonia, chorea or related movement disorder
- Childhood onset hereditary spastic paraplegia
- Childhood onset dystonia, chorea or related movement disorder
- Hereditary neuropathy or pain disorder
- Hereditary ataxia
- Adult onset hereditary spastic paraplegia
- Retinal disorders
- Possible mitochondrial disorder - nuclear genes
- Glaucoma (developmental)
- Hereditary neuropathy
- Bilateral congenital or childhood onset cataracts
History Filter Activity
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to OPA3. Mode of inheritance for gene OPA3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Optic atrophy 3 with cataract, 165300 for gene: OPA3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: OPA3 was added gene: OPA3 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: OPA3 was set to Phenotypes for gene: OPA3 were set to Eye Disorders