Genes in panel

Hereditary neuropathy

Gene: NEFH

Green List (high evidence)

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

3 reviews

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Strong evidence in multiple families of pathogenicity of frame shift mutations in the last exon
Created: 9 May 2019, 12:21 p.m.

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

The Neurology Specialist Test Group agreed that this gene was recommended for the WGS panel based on a broader phenotype view to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP. This panel includes conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation. This panel as going to be used for R78, but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy and as a result a new panel was created https://panelapp.genomicsengland.co.uk/panels/846/ for this purpose.
Created: 7 Dec 2019, 6:08 p.m. | Last Modified: 7 Dec 2019, 6:08 p.m.
Panel Version: 1.352
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.

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

Green List (high evidence)

Repeat rich region in final coding exon can cause miscalls
Created: 29 Apr 2019, 9:20 a.m.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2CC, 616924
OMIM
162230
Clinvar variants
Variants in NEFH
Penetrance
None
Panels with this gene

History Filter Activity

7 Dec 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

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

5 Jun 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: NEFH were changed from to Charcot-Marie-Tooth disease, axonal, type 2CC, 616924

5 Jun 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NEFH.

29 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: NEFH was added gene: NEFH was added to Hereditary neuropathy. Sources: London North GLH Mode of inheritance for gene: NEFH was set to