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  2. Congenital myopathy
  3. NEFL
STRs in panel
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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.

Panel version: 1.24

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.

Panel version: 1.0

Details

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

History Filter Activity

3 Feb 2023, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: NEFL was changed from MONOALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

7 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

7 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

6 Mar 2017, Gel status: 0

Added New Source

Anna Sarkozy (Great Ormond Street Hospital)

NEFL was added to Congenital myopathypanel. Sources: UCL

6 Mar 2017, Gel status: 0

Created

Anna Sarkozy (Great Ormond Street Hospital)

NEFL was created by anna.sarkozy