NEFL

neurofilament light
OMIM: 162280, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Amber NEFL in Neuromuscular disorders


Version 5.92
Signed off v.5.43 on 4 Mar 2020

review MONOALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Nemaline Myopathy

Red NEFL 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

Amber NEFL in Congenital myopathy

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.20
Signed off v.2.2 on 2 Mar 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Neuromuscular disorders
  • review MONOALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • UCL
    Phenotypes
    • Nemaline Myopathy
    Tags
    • watchlist

    Green NEFL 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
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    Phenotypes
    • Charcot Marie Tooth disease, type 2E, 607684
    • Charcot Marie Tooth disease, type 1F, 607734
    • Charcot Marie Tooth disease, type 1F, 607734
    • Charcot-Marie-Tooth disease, dominant intermediate G, 617882

    Red NEFL 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 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Charcot Marie Tooth disease, type 2E, 607684
    • Charcot Marie Tooth disease, type 1F, 607734

    Green NEFL 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
    • 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, dominant intermediate G, 617882
    • Charcot Marie Tooth disease, type 1F, 607734
    • Charcot Marie Tooth disease, type 2E, 607684

    Green NEFL 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
    • Charcot-Marie-Tooth disease, dominant intermediate G, 617882
    • Charcot-Marie-Tooth disease, type 2E, 607684
    • Charcot-Marie-Tooth disease, type 1F, 607734