Hereditary spastic paraplegia

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 23 panels

1 review

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on list classification: New gene added as a result of the ID panel review
Created: 1 Nov 2017, 12:50 p.m.
Added to Hereditary spastic paraplegia on advice from internal clinical team due to review of the Intellectual disability panel
Created: 1 Nov 2017, 12:49 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
3-methylglutaconic aciduria, type III, 258501; Costeff syndrome

Publications

History Filter Activity

1 Nov 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Nov 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

OPA3 was created by LouiseD

1 Nov 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

OPA3 was added to Hereditary spastic paraplegiapanel. Sources: Other,Literature