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Cataracts

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

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Phenotypes
3-methylglutaconic aciduria, type III, 258501

Publications

  • Reynier et al (2004) J Med genet 41:e110
  • Grau et al (2013) J Med Genet 50:848-858

Ellen McDonagh (Genomics England Curator)

I don't know

Comment on list classification: Promoted to green due to expert review.
Created: 31 May 2016, 10:22 a.m.
Is on the Manchester congenital cataracts gene panel. Not associated with a phenotype in G2P. Associated with Optic atrophy 3 with cataract in OMIM with an AD mode of inheritance. 2 families reported in OMIM.
Created: 25 Apr 2016, 9:48 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

History Filter Activity

31 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

31 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for OPA3 were set to Reynier et al (2004) J Med genet 41:e110; Grau et al (2013) J Med Genet 50:848-858

31 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for OPA3 were set to 3-methylglutaconic aciduria, type III, 258501; autosomal dominant optic atrophy with cataract (ADOAC)

31 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

31 May 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for OPA3 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

OPA3 was added to Cataractspanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

OPA3 was added to Cataractspanel. Sources: Radboud University Medical Center, Nijmegen