OPA3

OPA3, outer mitochondrial membrane lipid metabolism regulator
OMIM: 606580, Gene2Phenotype

24 panels

Panel Reviews Mode of inheritance Details
24 panels

Red OPA3 in Hyperammonaemia

Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.8

review Not set
Sources
  • Emory Genetics Laboratory

Red OPA3 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.9

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Green OPA3 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.68

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • Literature
Phenotypes
  • 3-methylglutaconic aciduria, type III, 258501
  • Costeff syndrome

Green OPA3 in Ataxia and cerebellar anomalies - narrow panel


Version 2.39
Signed off v.2.23 on 8 Oct 2020

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Costeff syndrome
    • 3-methylglutaconic aciduria, type III, 258501

    Green OPA3 in Cataracts

    Level 3: Anterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.58
    Signed off v.2.2 on 19 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • 3-methylglutaconic aciduria, type III, 258501
    • autosomal dominant optic atrophy with cataract (ADOAC)

    Green OPA3 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.207

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    • Other
    Phenotypes
    • 3-methylglutaconic aciduria, type III, 258501
    • Costeff syndrome

    Green OPA3 in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.219

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Other
    Phenotypes
    • 3-methylglutaconic aciduria, type III, 258501
    • Costeff syndrome

    Green OPA3 in Optic neuropathy

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.29
    Signed off v.2.2 on 19 Feb 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • Expert Review Green
    • Expert
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    Phenotypes
    • Autosomal Dominant Optic Atrophy
    • optic atrophy and cataracts
    • Optic atrophy 3 with cataract

    Green OPA3 in Hereditary spastic paraplegia - childhood onset


    Version 2.25
    Signed off v.2.18 on 8 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Literature
    • Expert Review Green
    • Other
    Phenotypes
    • 3-methylglutaconic aciduria, type III, 258501
    • Costeff syndrome

    Green OPA3 in Hereditary spastic paraplegia - adult onset


    Version 1.16
    Signed off v.1.12 on 15 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Yorkshire and North East GLH
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • 3-methylglutaconic aciduria, type III, 258501
    • Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD

    Red OPA3 in Neurodegenerative disorders - adult onset


    Version 2.38
    Signed off v.2.31 on 8 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Costeff syndrome
    • 3-methylglutaconic aciduria, type III, 258501

    Green OPA3 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.440

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Methylglutaconic aciduria type III, Costeff syndrome (Organic acidurias)
    • 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300

    Green OPA3 in Inborn errors of metabolism


    Version 2.50
    Signed off v.2.3 on 17 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Methylglutaconic aciduria type III, Costeff syndrome (Organic acidurias)
    • 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300

    Green OPA3 in Possible mitochondrial disorder - nuclear genes


    Version 1.31
    Signed off v.1.17 on 11 Nov 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • 3-methylglutaconic aciduria, type III, 258501
    • Optic atrophy 3 with cataract, 165300

    Green OPA3 in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.383

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Optic atrophy 3 with cataract, 165300
    • 3-methylglutaconic aciduria, type III, 258501
    • Infantile optic atrophy, additionally, extra pyramidal disorder (chorea), ataxia, cognitive defects, axonal sensory neuropathy, autonomic neuropathy, pseudo-obstruction

    Green OPA3 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.740
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • 3-methylglutaconic aciduria, type III, 258501
    • Costeff syndrome
    • Cognitive regression

    Green OPA3 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.14
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • 3-methylglutaconic aciduria, type III, 258501Optic atrophy 3 with cataract, 165300

    Green OPA3 in Hereditary ataxia - adult onset


    Version 2.20
    Signed off v.2.13 on 6 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Optic atrophy 3 with cataract, 165300
    • 3-methylglutaconic aciduria, type III, 258501
    • 3-methylglutaconic aciduria type III, 258501
    • Costeff syndrome

    Red OPA3 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.163
    Signed off v.2.7 on 25 Feb 2020

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Autosomal Dominant Optic Atrophy
    • Eye Disorders

    Red OPA3 in Structural eye disease


    Version 1.42
    Signed off v.1.3 on 4 Mar 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Optic atrophy 3 with cataract, 165300
    • Eye Disorders

    Red OPA3 in Adult onset movement disorder


    Version 1.16
    Signed off v.1.14 on 15 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • NHS GMS
    • London North GLH
    Phenotypes
    • 3-methylglutaconic aciduria, type III, 258501
    • Costeff syndrome

    Amber OPA3 in Hereditary neuropathy NOT PMP22 copy number


    Version 1.21
    Signed off v.1.2 on 27 Feb 2020

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    • NHS GMS
    • London North GLH
    Phenotypes
    • Infantile optic atrophy, additionally, extra pyramidal disorder (chorea), ataxia, cognitive defects, axonal sensory neuropathy, autonomic neuropathy, pseudo-obstruction
    • Optic atrophy 3 with cataract, 165300
    • 3-methylglutaconic aciduria, type III, 258501

    Green OPA3 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.74
    Signed off v.1.58 on 6 Oct 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • London North GLH
    Phenotypes
    • 3-methylglutaconic aciduria, type III, 258501

    Green OPA3 in Severe Paediatric Disorders


    Version 1.43

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • 3-methylglutaconic aciduria, type III, 258501
    • Optic atrophy 3 with cataract, 165300