MFN2

mitofusin 2
OMIM: 608507, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

Amber MFN2 in Lissencephaly and Band Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 1.21

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970, MFN2-related

    Amber MFN2 in Polymicrogyria and Schizencephaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.195

    Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970, MFN2-related

    Amber MFN2 in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.78

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970, MFN2-related

    Red MFN2 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.389

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2A2A - #609260
    • Charcot-Marie-Tooth disease, axonal, type 2A2B - #617087
    • Hereditary motor and sensory neuropathy VIA - 601152

    Green MFN2 in Mendeliome


    Version 1.2374

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2A2A 609260
    • Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087
    • Hereditary motor and sensory neuropathy VIA, MIM# 601152
    • Lipomatosis, multiple symmetric, with or without peripheral neuropathy, MIM# 151800

    Green MFN2 in Optic Atrophy


    Level 2: Ophthalmological disorders
    Version 1.45

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2A2A, MIM# 609260
    • Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 61708, Hereditary motor and sensory neuropathy VIA, MIM# 601152

    Green MFN2 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.970

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review Unknown
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    • Expert Review Green
    • Victorian Clinical Genetics Services

    Red MFN2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260
    • Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087
    • Hereditary motor and sensory neuropathy VIA, OMIM #601152

    Green MFN2 in Hereditary Neuropathy_CMT - isolated


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.52

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2A2A 609260
    • Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087
    • Hereditary motor and sensory neuropathy VIA, MIM# 601152

    Amber MFN2 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.219

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • RetNet
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2A2A, MIM# 609260
    • Charcot-Marie-Tooth disease, axonal, type 2A2B, MIM# 617087

    Green MFN2 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive

    Green MFN2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Charcot-Marie-Tooth disease

    Amber MFN2 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Mitochondrial disease, MONDO:0044970, MFN2-related

    Green MFN2 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive

    Red MFN2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260
    • Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087
    • Hereditary motor and sensory neuropathy VIA, OMIM #601152

    Green MFN2 in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive