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Fetal anomalies

Gene: OPA1

Amber List (moderate evidence)
OPA1 (OPA1, mitochondrial dynamin like GTPase)
EnsemblGeneIds (GRCh38): ENSG00000198836
EnsemblGeneIds (GRCh37): ENSG00000198836
OMIM: 605290, Gene2Phenotype
OPA1 is in 18 panels

2 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Louise Carr (North Thames Genomic Medicine Service)

I don't know

Mitochondrial DNA Depletion Syndrome 14A/B have been reported to be caused by OPA1 mutations. (39233737) reported on 2 unrelated patients with mitochondrial DNA depletion syndrome 14A that had heterozygosity for de novo mutations in the OPA1 gene. The paper included functional analysis on patient fibroblasts, found reduced amount of mitochondrial DNA and altered mitochondria network characterized by more fragmented mitochondria. They report on the clinical phenotype in these cases, including new neurological manifestations. (26561570) Two sisters presenting with lethal infantile encephalopathy, hypertrophic cardiomyopathy and optic atrophy (neurodevelopmental deficits). They found that mitochondrial respiratory chain complex activities were globally decreased in skeletal muscle biopsies. They were homozygous for a novel c.1601T>G (p.Leu534Arg) mutation. Severe mtDNA depletion in DNA extracted from patients muscle biopsies. The two sisters have mitochondrial DNA depletion syndrome-14B resulting in fetal infantile cardioencephalomyopathy.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type), OMIM:616896; Mitochondrial DNA depletion syndrome 14A (encephalomyopathic type), OMIM:621481

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type), OMIM:616896
  • Mitochondrial DNA depletion syndrome 14A (encephalomyopathic type), OMIM:621481
OMIM
605290
Clinvar variants
Variants in OPA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ida Ertmanska (Genomics England Curator)

gene: OPA1 was added gene: OPA1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: OPA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: OPA1 were set to 26561570; 39233737 Phenotypes for gene: OPA1 were set to Mitochondrial DNA depletion syndrome 14B (cardioencephalomyopathic type), OMIM:616896; Mitochondrial DNA depletion syndrome 14A (encephalomyopathic type), OMIM:621481