NEFL Chromosome 8
Neurofilament light chain
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What This Gene Does
Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008]
Gene Info
Gene Group
"Intermediate filaments Type IV|Protein phosphatase 1 regulatory subunits|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
8p21.2
Ensembl
ENSG00000277586
Associated Conditions (18)
Charcot-Marie-Tooth disease type 2E
Inborn genetic diseases
Charcot-Marie-Tooth disease type 1F
Charcot-Marie-Tooth disease
dominant intermediate G
NEFL-related disorder
Hereditary motor neuron disease
Peripheral neuropathy
Auditory neuropathy
Charcot-Marie-Tooth disease type 1C
Pes cavus
Distal lower limb muscle weakness
Decreased nerve conduction velocity
Distal muscle weakness
Peripheral demyelination
Hand muscle atrophy
Developmental disorder
Sensorineural hearing loss disorder
Key Variants
RS1057517776
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E
Health Risk
RS1208531254
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E
Health Risk
RS1411999109
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2E, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2E
Health Risk
RS1457926450
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1F
Health Risk
RS1554497393
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E
Health Risk
RS1554497641
Conflicting classifications of pathogenicity
Inborn genetic diseases, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease
Health Risk
RS199422214
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1F
Health Risk
RS199775873
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E, Inborn genetic diseases
Health Risk
RS2117255599
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E
Health Risk
RS2486887879
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, dominant intermediate G, Charcot-Marie-Tooth disease type 2E
Health Risk
RS267607538
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease
Health Risk
RS372748927
Conflicting classifications of pathogenicity
Charcot-Marie-Tooth disease, Inborn genetic diseases, Charcot-Marie-Tooth disease type 2E
Health Risk
All Variants (67)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2486886357 | Health Risk | Pathogenic | Auditory neuropathy, Auditory neuropathy |
| RS545637885 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E |
| RS58332872 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E |
| RS59443585 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E |
| RS60261494 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1F |
| RS62636503 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease, dominant intermediate G |
| RS62636505 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E |
| RS757417962 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E |
| RS766951637 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E |
| RS876661155 | Health Risk | Pathogenic | Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E |
| RS1325294849 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E |
| RS1429859627 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1F |
| RS1586128143 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 2E |
| RS2117256073 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 1F |
| RS28928910 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease type 1C, Peripheral neuropathy |
| RS58982919 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease type 1F, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease |
| RS61491953 | Health Risk | Pathogenic/Likely pathogenic | Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease |