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Intellectual disability

Gene: NEFL

Red List (low evidence)

NEFL (neurofilament light)
EnsemblGeneIds (GRCh38): ENSG00000277586
EnsemblGeneIds (GRCh37): ENSG00000104725
OMIM: 162280, Gene2Phenotype
NEFL is in 6 panels

2 reviews

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_movement_disorder_list;in_UKGTN_v12 . Main mutation mechanism : NA
Created: 27 Jul 2017, 7:47 p.m.
Evidences key, gene present in following gene lists and main mutation mechanism : sfari_20150206; manju_list; UKGTN_v12; neuro_20160418_strict; NA. This is a pertinent gene from the BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene comes from the SPEED_NEURO_v3.0_20170404 gene list. The following experts from the BRIDGE consortium NIHRBR-RD contributed to this panel: - Professor F. Lucy Raymond, Cambridge Institute for Medical Research, University of Cambridge - Manju Kurian, Paediatric neurologist, Great Ormond Street Hosptial - Keren Carss, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Alba Sanchis-Juan, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Marie Erwood NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust - Louise Daugherty, NIHR BioResource - Rare Diseases, Cambridge University Hospitals NHS Foundation Trust
Created: 19 Jul 2017, 12:56 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

  • Personal communication with NIHRBRRD BRIDGE SPEED
  • Version 12 ukgtn.nhs.uk

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Comment on phenotypes: added phenotypes. Variants of NEFL cause a movement disorder phenotype (Charcot Marie Tooth disease, type 2E), where intellectual disability does not seem to be a feature. 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: 12 Mar 2018, 9:47 a.m.
Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to assess inclusion and pertinence to this panel.
Created: 20 Jul 2017, 1:02 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Charcot Marie Tooth disease, type 2E, 607684; Charcot Marie Tooth disease, type 1F, 607734

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Amber
Phenotypes
  • Charcot Marie Tooth disease, type 2E, 607684
  • Charcot Marie Tooth disease, type 1F, 607734
OMIM
162280
Clinvar variants
Variants in NEFL
Penetrance
Complete
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Expert Review Red was added to NEFL. Panel: Intellectual disability Model of inheritance for gene NEFL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

19 Jul 2017, Gel status: 0

Added New Source

BRIDGE consortium (NIHRBR-RD)

NEFL was added to Intellectual disabilitypanel. Sources: BRIDGE study SPEED NEURO Tier1 Gene

19 Jul 2017, Gel status: 0

Created

BRIDGE consortium (NIHRBR-RD)

NEFL was created by BRIDGE