Hereditary Neuropathy_CMT - isolated
Gene: NEFL

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

Created: 29 May 2021, 9:04 a.m.
Last Modified: 29 May 2021, 9:04 a.m.
Panel version: 0.199

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

Hereditary Neuropathy_CMT - isolated Gene: NEFL