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Inborn errors of metabolism

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 24 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: 3-methylglutaconic aciduria, type III = biallelic, Optic atrophy 3 with cataract is monoallelic.
Created: 7 Mar 2016, 6:11 p.m.
Comment on list classification: Carl Fratter also confirmed this gene should be promoted from red to green.
Created: 7 Mar 2016, 6:10 p.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to OPA3. Source London North GLH was added to OPA3.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300; Methylglutaconic aciduria type III, Costeff syndrome (Organic acidurias) for gene: OPA3 Publications for gene OPA3 were changed from to 27604308

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: OPA3 was added gene: OPA3 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: OPA3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300