Hyperammonaemia
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
Peter Clayton (UCL Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
3-methylglutaconic aciduria, type III (Costeff)
Ellen McDonagh (Genomics England Curator)
Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.Created: 5 Nov 2015, 5:19 p.m.
Details
- Sources
-
- Emory Genetics Laboratory
- OMIM
- 606580
- Clinvar variants
- Variants in OPA3
- Penetrance
- Complete
- Panels with this gene
-
- Hereditary neuropathy or pain disorder
- Parkinson Disease and Complex Parkinsonism
- Ataxia and cerebellar anomalies - childhood onset
- Hereditary spastic paraplegia, adult onset
- Hereditary spastic paraplegia, childhood onset
- Undiagnosed metabolic disorders
- Hyperammonaemia
- Hereditary ataxia
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Possible mitochondrial disorder, nuclear genes
- Optic neuropathy
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Dystonia, chorea or related movement disorder, adult onset
- Hereditary spastic paraplegia
- Hereditary neuropathy
- Bilateral congenital or childhood onset cataracts
- Structural eye disease
- Hereditary ataxia, adult onset
- Glaucoma (developmental)
- Retinal disorders
- Mitochondrial disorders
History Filter Activity
22 Nov 2016, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 on 22nd November 2016
5 May 2015, Gel status: 1
Added New Source
Eik Haraldsdottir (Genomics England)OPA3 was added to Hyperammonaemiapanel. Sources: Emory Genetics Laboratory