Congenital ophthalmoplegia
Gene: OPA1
OPA1 (OPA1, mitochondrial dynamin like GTPase)
EnsemblGeneIds (GRCh38): ENSG00000198836
EnsemblGeneIds (GRCh37): ENSG00000198836
OMIM: 605290, Gene2Phenotype
OPA1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000198836
EnsemblGeneIds (GRCh37): ENSG00000198836
OMIM: 605290, Gene2Phenotype
OPA1 is in 17 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Childhood onset disorder, characterised by optic atrophy, but progressive external ophthalmoplegia can be a feature.
Sources: Expert listCreated: 11 Nov 2020, 7:35 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Optic atrophy plus syndrome, MIM# 125250
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Optic atrophy plus syndrome, MIM# 125250
- 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
11 Nov 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: opa1 has been classified as Green List (High Evidence).
11 Nov 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: opa1 has been classified as Green List (High Evidence).
11 Nov 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: OPA1 was added gene: OPA1 was added to Congenital ophthalmoplegia. Sources: Expert list Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: OPA1 were set to Optic atrophy plus syndrome, MIM# 125250 Review for gene: OPA1 was set to GREEN