Congenital myopathy

Gene: NEFL

Amber List (moderate evidence)

NEFL (neurofilament light)
EnsemblGeneIds (GRCh38): ENSG00000277586
EnsemblGeneIds (GRCh37): ENSG00000104725
OMIM: 162280, Gene2Phenotype
NEFL is in 7 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.

Anna Sarkozy (Great Ormond Street Hospital)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline Myopathy

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal
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

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