Genes in panel

Neurodegenerative disorders - adult onset

Gene: NEFH

Red List (low evidence)

NEFH (neurofilament heavy)
EnsemblGeneIds (GRCh38): ENSG00000100285
EnsemblGeneIds (GRCh37): ENSG00000100285
OMIM: 162230, Gene2Phenotype
NEFH is in 5 panels

5 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Susceptibility locus for ALS - amber? Axonal Charcot-Marie-Tooth disease type 2CC is an autosomal dominant peripheral neuropathy that predominantly affects the lower limbs - childhood onset. Red
Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.
Panel Version: 1.99

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

Phenotypes
susceptibility to amyotrophic lateral sclerosis (ALS)

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

Some of evidence but not conclusive.
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.
Panel Version: 1.72

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

Phenotypes
susceptibility to amyotrophic lateral sclerosis (ALS)

Variants in this GENE are reported as part of current diagnostic practice

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.
Panel Version: 1.106
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.
Panel Version: 1.101
Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.
Panel Version: 1.74
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 5:35 p.m.
Review and rating from Anthony Dallosso (Bristol Genetics Laboratory), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 3:05 p.m.

Anthony Dallosso (Bristol Genetics Laboratory)

I don't know

Potential susceptibility locus with reduced penetrance; variants found in patients and controls.
Created: 23 Apr 2019, 2:42 p.m.

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

Phenotypes
susceptibility to amyotrophic lateral sclerosis (ALS)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • susceptibility to amyotrophic lateral sclerosis (ALS)
OMIM
162230
Clinvar variants
Variants in NEFH
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2019, Gel status: 1

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to NEFH. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

2 Sep 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to NEFH.

23 Jul 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to NEFH.

23 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to NEFH.

23 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NEFH.

23 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to NEFH.

25 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

18 Dec 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: NEFH was added gene: NEFH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber Mode of inheritance for gene: NEFH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NEFH were set to PMID: 24488689 Phenotypes for gene: NEFH were set to susceptibility to amyotrophic lateral sclerosis (ALS)