Hereditary ataxia with onset in adulthood
Gene: OPA1EnsemblGeneIds (GRCh38): ENSG00000198836
EnsemblGeneIds (GRCh37): ENSG00000198836
OMIM: 605290, Gene2Phenotype
OPA1 is in 17 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Tracy Lester (Genetics laboratory, Oxford UK)
Multiple reports in the lit for all phenotypes - ataxia only a part of Behr and Optic atrophy plus. Loss of function variants (as AD cause) only associated with non-syndrome OACreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Optic atrophy 1, 165500, Optic atrophy plus syndrome, 125250, Behr syndrome, 210000
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
- BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Wessex and West Midlands GLH
- Phenotypes
-
- Optic atrophy plus syndrome, OMIM:125250
- Behr syndrome, OMIM:210000
- OMIM
- 605290
- Clinvar variants
- Variants in OPA1
- Penetrance
- None
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Hereditary neuropathy
- Mitochondrial DNA maintenance disorder
- Mitochondrial disorders
- Retinal disorders
- Optic neuropathy
- Auditory Neuropathy Spectrum Disorde
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Hereditary neuropathy or pain disorder
- Ataxia and cerebellar anomalies - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Structural eye disease
- Monogenic hearing loss
- Glaucoma (developmental)
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: OPA1 were changed from Optic atrophy 1, 165500; Behr syndrome, 210000; Optic atrophy plus syndrome, 125250 to Optic atrophy plus syndrome, OMIM:125250; Behr syndrome, OMIM:210000
Set mode of pathogenicity
Louise Daugherty (Genomics England Curator)Mode of pathogenicity for gene: OPA1 was changed from to Other
Set mode of inheritance
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene: OPA1 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: opa1 has been classified as Green List (High Evidence).
Set Phenotypes
Louise Daugherty (Genomics England Curator)Added phenotypes Optic atrophy 1, 165500; Behr syndrome, 210000; Optic atrophy plus syndrome, 125250 for gene: OPA1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to OPA1.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: OPA1 was added gene: OPA1 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: OPA1 was set to