1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. NEFL
STRs in panel
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Congenital muscular dystrophy and congenital myopathy

Gene: NEFL

Amber List (moderate evidence)
NEFL (neurofilament light)
EnsemblGeneIds (GRCh38): ENSG00000277586
EnsemblGeneIds (GRCh37): ENSG00000104725
OMIM: 162280, Gene2Phenotype
NEFL is in 5 panels

2 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Single family. Reviewer contacted to see if they have further cases. Amber and watchlist on present evidence.
Created: 7 Mar 2017, 4:17 p.m.
Comment on list classification: single family
Created: 7 Mar 2017, 4:16 p.m.
Created: 7 Mar 2017, 4:16 p.m.

Copied from panel: Congenital myopathy v3.79

Anna Sarkozy (Great Ormond Street Hospital)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline Myopathy

Publications

Created: 6 Mar 2017, 12:14 p.m.

Copied from panel: Congenital myopathy v3.79

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • UCL
Phenotypes
  • Nemaline myopathy, MONDO:0018958
Tags
watchlist
OMIM
162280
Clinvar variants
Variants in NEFL
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Feb 2023, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: NEFL were changed from Nemaline Myopathy to Nemaline myopathy, MONDO:0018958

3 Feb 2023, Gel status: 2

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Arina Puzriakova (Genomics England Curator)

gene: NEFL was added gene: NEFL was added to Congenital muscular dystrophy and congenital myopathy. Sources: UCL,Expert Review Amber watchlist tags were added to gene: NEFL. Mode of inheritance for gene: NEFL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NEFL were set to 25264603 Phenotypes for gene: NEFL were set to Nemaline Myopathy Penetrance for gene: NEFL were set to Complete