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Severe Paediatric Disorders

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

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: NEFL; Recommended initial gene rating: Green List (high evidence); Phenotypes: Charcot-Marie-Tooth disease, dominant intermediate G, 617882 (3) | Charcot-Marie-Tooth disease, type 1F, 607734 (3) | Charcot-Marie-Tooth disease, type 2E, 607684 (3); Mode of inheritance: Autosomal dominant | Autosomal recessive, Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:22 p.m. | Last Modified: 20 Feb 2020, 5:22 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
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
OMIM
162280
Clinvar variants
Variants in NEFL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene NEFL were updated from to 30847515