Hereditary Neuropathy_CMT - isolated

Gene: NEFL

Green List (high evidence)

NEFL (neurofilament light)
EnsemblGeneIds (GRCh38): ENSG00000277586
EnsemblGeneIds (GRCh37): ENSG00000104725
OMIM: 162280, Gene2Phenotype
NEFL is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Association between mono-allelic variants and different types of CMT well established.

At least 2 reports of bi-allelic variants and CMT.
Created: 29 May 2021, 9:04 a.m. | Last Modified: 29 May 2021, 9:04 a.m.
Panel Version: 0.199

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882; Charcot-Marie-Tooth disease, type 1F, MIM# 607734; Charcot-Marie-Tooth disease, type 2E 607684

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot Marie Tooth disease, type 2E, 607684
  • Charcot-Marie-Tooth disease, dominant intermediate G, 617882
  • HMSN
  • Charcot Marie Tooth disease, type 1F, 607734
OMIM
162280
Clinvar variants
Variants in NEFL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nefl has been classified as Green List (High Evidence).

29 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NEFL were set to

13 Jan 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: NEFL was added gene: NEFL was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: NEFL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: NEFL were set to Charcot Marie Tooth disease, type 2E, 607684; Charcot-Marie-Tooth disease, dominant intermediate G, 617882; HMSN; Charcot Marie Tooth disease, type 1F, 607734