Research panel - Severe Paediatric Disorders
Gene: OPA1

OPA1 (OPA1, mitochondrial dynamin like GTPase)
EnsemblGeneIds (GRCh38): ENSG00000198836
EnsemblGeneIds (GRCh37): ENSG00000198836
OMIM: 605290, Gene2Phenotype
OPA1 is in 17 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: OPA1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Behr syndrome, 210000 (3) | ?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896 (3) | Optic atrophy 1, 165500 (3) | Optic atrophy plus syndrome, 125250 (3); Mode of inheritance: Autosomal recessive | ND | Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:23 p.m. | Last Modified: 20 Feb 2020, 5:23 p.m.

Panel Version: 0.12

Created: 20 Feb 2020, 5:23 p.m.
Last Modified: 20 Feb 2020, 5:23 p.m.
Panel version: 0.12

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

Next Generation Children Project
Expert Review Green
Expert list

Phenotypes

Behr syndrome, 210000
Optic atrophy 1, 165500
?Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type), 616896
Optic atrophy plus syndrome, 125250

OMIM

605290

Clinvar variants

Variants in OPA1

Penetrance

None

Publications

30847515

Panels with this gene