MFN2

mitofusin 2
OMIM: 608507, Gene2Phenotype

15 panels

Panel Reviews Mode of inheritance Details
15 panels

Red MFN2 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 MFN2 in Mitochondrial DNA maintenance disorder


Version 1.3
Signed off v.1.2 on 17 Feb 2020

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome
  • Optic atrophy plus

Green MFN2 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
  • Emory Genetics Laboratory
Phenotypes
  • Optic Atrophy
  • Hereditary motor and sensory neuropathy VIA
  • Charcot-Marie-Tooth disease, axonal, type 2A2A (AD), 609260
  • Charcot-Marie-Tooth disease, axonal, type 2A2B (AR), 617087
  • Hereditary motor and sensory neuropathy VIA (AD), 601152

Red MFN2 in Arthrogryposis

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.52
Signed off v.3.2 on 13 Feb 2020

review Not set
Sources
  • Expert Review Red
  • Expert list

Green MFN2 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
  • Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • Disorders of mitochondrial DNA maintenance and integrity
  • Charcot-Marie-Tooth disease, type 2A2, 609260
  • Hereditary motor and sensory neuropathy VI, 601152

Green MFN2 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
    • Charcot-Marie-Tooth disease, type 2A2, 609260
    • Disorders of mitochondrial dynamics, fusion and fission (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Disorders of mitochondrial DNA maintenance and integrity
    • Hereditary motor and sensory neuropathy VI, 601152

    Green MFN2 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
    • Mitochondrial DNA depletion syndrome
    • Optic atrophy plus

    Green MFN2 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
    • South West GLH
    • NHS GMS
    • London North GLH
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Charcot-Marie-Tooth, Type 2 (Dominant)
    • MFN2 axonal neuropathy
    • MFN2 axonal neuropathy
    • Charcot-Marie-Tooth, Type 2 (Dominant)
    • Charcot Marie Tooth disease, type 2A2, 609260
    • Hereditary motor and sensory neuropathy VI, 601152
    • Hereditary motor and sensory neuropathy VI, 601152
    • Hereditary Motor and Sensory Neuropathy (Recessive)
    • Hereditary Motor and Sensory Neuropathy (Recessive)

    Green MFN2 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
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Expert
    Phenotypes
    • Disorders of mitochondrial DNA maintenance and integrity
    • Charcot-Marie-Tooth disease, type 2A2, 609260
    • Hereditary motor and sensory neuropathy VI, 601152

    Green MFN2 in Hereditary ataxia - adult onset


    Version 2.20
    Signed off v.2.13 on 6 Oct 2020

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Dominant optic atrophy plus

    Red MFN2 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 Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Optic Atrophy
    • Eye Disorders

    Red MFN2 in Structural eye disease


    Version 1.42
    Signed off v.1.3 on 4 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Charcot-Marie-Tooth disease, type 2A2, 609260
    • Eye Disorders

    Green MFN2 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
    • Eligibility statement prior genetic testing
    • Radboud University Medical Center, Nijmegen
    • South West GLH
    • Expert Review Green
    • UKGTN
    • Emory Genetics Laboratory
    • Expert list
    • London North GLH
    • Illumina TruGenome Clinical Sequencing Services
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Charcot Marie Tooth disease, type 2A2, 609260
    • Charcot-Marie-Tooth, Type 2 (Dominant)
    • Hereditary motor and sensory neuropathy VI, 601152
    • MFN2 axonal neuropathy
    • Hereditary Motor and Sensory Neuropathy (Recessive)

    Red MFN2 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.74
    Signed off v.1.58 on 6 Oct 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green MFN2 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
    • Hereditary motor and sensory neuropathy VIA, 601152
    • Charcot-Marie-Tooth disease, axonal, type 2A2A, 609260
    • Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087