Optic Atrophy
Gene: OPA1EnsemblGeneIds (GRCh38): ENSG00000198836
EnsemblGeneIds (GRCh37): ENSG00000198836
OMIM: 605290, Gene2Phenotype
OPA1 is in 17 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Well established gene-disease association. Both mono-allelic and bi-allelic variants are associated with OA.Created: 14 Jul 2021, 8:37 a.m. | Last Modified: 14 Jul 2021, 8:37 a.m.
Panel Version: 0.138
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Optic atrophy 1 165500; Optic atrophy plus syndrome, MIM# 125250; Behr syndrome, MIM# 210000
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Optic atrophy 1 165500
- Optic atrophy plus syndrome, MIM# 125250
- Behr syndrome, MIM# 210000
- OMIM
- 605290
- Clinvar variants
- Variants in OPA1
- Penetrance
- None
- Panels with this gene
-
- Deafness_IsolatedAndComplex
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Hereditary Neuropathy - complex
- Gastrointestinal neuromuscular disease
- Optic Atrophy
- BabyScreen+ newborn screening
- Mitochondrial disease
- Congenital ophthalmoplegia
- Auditory Neuropathy
- Muscular dystrophy and myopathy_Paediatric
- Regression
- Additional findings_Paediatric
- Mendeliome
- Prepair 500+
- Ataxia - paediatric
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: opa1 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: OPA1 were changed from to Optic atrophy 1 165500; Optic atrophy plus syndrome, MIM# 125250; Behr syndrome, MIM# 210000
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: OPA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: OPA1 was added gene: OPA1 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: OPA1 was set to Unknown