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Intellectual disability update Jan 2018

Gene: NEFL

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

1 review

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed rating from Amber to Red. Variants of NEFL result in Charcot Marie Tooth disease types that are predominantly associated to a movement disorder with no intellectual disability association
Created: 27 Feb 2018, 11:50 a.m.
Variants of NEFL cause a movement disorder phenotype (Charcot Marie Tooth disease, type 2E), where intellectual disability does not seem to be a feature.
Created: 27 Feb 2018, 11:45 a.m.
Comment on phenotypes: added phenotypes
Created: 27 Feb 2018, 11:38 a.m.
Created: 27 Feb 2018, 11:38 a.m.

Panel version: 0.129

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Charcot Marie Tooth disease, type 2E, 607684
  • Charcot Marie Tooth disease, type 1F, 607734
OMIM
162280
Clinvar variants
Variants in NEFL
Penetrance
None
Panels with this gene

History Filter Activity

27 Feb 2018, Gel status: 1

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

27 Feb 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for NEFL was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

27 Feb 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for NEFL were set to Charcot Marie Tooth disease, type 2E, 607684; Charcot Marie Tooth disease, type 1F, 607734

18 Dec 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

NEFL was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber

18 Dec 2017, Gel status: 2

Created

Ellen McDonagh (Genomics England Curator)

NEFL was created by Ellen McDonagh