Hereditary Neuropathy - complex

Gene: OPA3

Green List (high evidence)

OPA3 (OPA3, outer mitochondrial membrane lipid metabolism regulator)
EnsemblGeneIds (GRCh38): ENSG00000125741
EnsemblGeneIds (GRCh37): ENSG00000125741
OMIM: 606580, Gene2Phenotype
OPA3 is in 19 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Peripheral neuropathy has been reported in multiple individuals with ADOA associated with OPA3. Haploinsufficiency is not expected to be the mechanism of disease. Gain of function or dominant negative effect have been suggested mechanisms of disease.
PMID: 31119193 - 9 of the 12 affected individuals from 3 families with OPA3 missense (p.Met8Thr, & p.Gln105Glu) had a possible or confirmed peripheral neuropathy. Was presenting feature in a single case.
PMID: 28050599 - de novo c.235C>G p.(Leu79Val) identified in a woman who presented with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy.
Sources: Literature
Created: 24 Jan 2024, 3:35 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Optic atrophy 3 MONDO:0008133

Publications

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

24 Jan 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: opa3 has been classified as Green List (High Evidence).

24 Jan 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: opa3 has been classified as Green List (High Evidence).

24 Jan 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: OPA3 was added gene: OPA3 was added to Hereditary Neuropathy - complex. Sources: Literature Mode of inheritance for gene: OPA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: OPA3 were set to 31119193; 28050599 Phenotypes for gene: OPA3 were set to Optic atrophy 3 MONDO:0008133 Mode of pathogenicity for gene: OPA3 was set to Other Review for gene: OPA3 was set to GREEN gene: OPA3 was marked as current diagnostic