Gastrointestinal neuromuscular disease
Gene: OPA1EnsemblGeneIds (GRCh38): ENSG00000198836
EnsemblGeneIds (GRCh37): ENSG00000198836
OMIM: 605290, Gene2Phenotype
OPA1 is in 17 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Cannot find evidence that gastrointestinal pseudo-obstruction or dysmotility have been reported in association with this gene. There is a single report of an OPA1 heterozygous variant in a case with suggestive MNGIE, but there were no obvious gastrointestinal features identified.
Sources: Expert listCreated: 2 Jul 2020, 2:25 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
gastrointestinal pseudo-obstruction
Publications
Ee Ming Wong (Victorian Clinical Genetics Services)
OPA1 is associated with incomplete penetrance (PMID: 30165240).Created: 3 Feb 2020, 11:42 p.m. | Last Modified: 3 Feb 2020, 11:42 p.m.
Panel Version: 0.1220
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
1. ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type) 6168963; 2. {Glaucoma, normal tension, susceptibility to} 6066573; 3. Behr syndrome 210000 AR; 4. Optic atrophy 1 165500 AD; 5. Optic atrophy plus syndrome 125250 AD
Publications
- PMID: 30165240
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- gastrointestinal pseudo-obstruction
- OMIM
- 605290
- Clinvar variants
- Variants in OPA1
- Penetrance
- None
- Publications
- 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
Bryony Thompson (Royal Melbourne Hospital)Gene: opa1 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: OPA1 was added gene: OPA1 was added to Gastrointestinal neuromuscular disease. Sources: Expert list Mode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OPA1 were set to 30395865 Phenotypes for gene: OPA1 were set to gastrointestinal pseudo-obstruction Review for gene: OPA1 was set to RED