Retinal disorders
Gene: OPA3
OPA3 (OPA3, outer mitochondrial membrane lipid metabolism regulator)
EnsemblGeneIds (GRCh38): ENSG00000125741
EnsemblGeneIds (GRCh37): ENSG00000125741
OMIM: 606580, Gene2Phenotype
OPA3 is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000125741
EnsemblGeneIds (GRCh37): ENSG00000125741
OMIM: 606580, Gene2Phenotype
OPA3 is in 23 panels
2 reviews
Ivone Leong (Genomics England Curator)
OPA3 is a green gene on the Optic neuropathy panel (code 186, version 1.117). After discussion with Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital) it was decided that it is all right to leave OPA3 off this panel (Retinal disorders)Created: 30 Aug 2019, 2:52 p.m. | Last Modified: 30 Aug 2019, 2:52 p.m.
Panel Version: 1.160
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Autosomal Dominant Optic Atrophy
- Eye Disorders
- OMIM
- 606580
- Clinvar variants
- Variants in OPA3
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Hyperammonaemia
- Hereditary ataxia
- Mitochondrial disorders
- Childhood onset hereditary spastic paraplegia
- Bilateral congenital or childhood onset cataracts
- Likely inborn error of metabolism
- Intellectual disability
- Retinal disorders
- Hereditary spastic paraplegia
- Adult onset neurodegenerative disorder
- Parkinson Disease and Complex Parkinsonism
- Glaucoma (developmental)
- Optic neuropathy
- Hereditary neuropathy
- Adult onset dystonia, chorea or related movement disorder
- Structural eye disease
- Possible mitochondrial disorder - nuclear genes
- Adult onset hereditary spastic paraplegia
History Filter Activity
3 Apr 2019, Gel status: 1
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to OPA3.
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)OPA3 was created by ellenmcdonagh
9 Mar 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)OPA3 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red