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Hereditary Neuropathy_CMT - isolated

Gene: NEFH

Green List (high evidence)
NEFH (neurofilament heavy)
EnsemblGeneIds (GRCh38): ENSG00000100285
EnsemblGeneIds (GRCh37): ENSG00000100285
OMIM: 162230, Gene2Phenotype
NEFH is in 3 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Only stop-loss variants reported to date: 6 frameshift variants causing elongation of NEFH protein, resulting in abnormal protein aggregation (PMIDs: 30992180, 27040688, 28709447) - gain of toxic function.
Created: 13 Jun 2020, 7:55 a.m. | Last Modified: 13 Jun 2020, 7:55 a.m.
Panel Version: 0.44

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2CC, MIM#616924

Publications

Mode of pathogenicity
Other

Created: 13 Jun 2020, 7:55 a.m.
Last Modified: 13 Jun 2020, 7:55 a.m.
Panel version: 0.44

Chern Lim (Victorian Clinical Genetics Services)

Green List (high evidence)

Only stop-loss variants reported to date: 6 frameshift variants causing elongation of NEFH protein, resulting in abnormal protein aggregation (PMIDs: 30992180, 27040688, 28709447) - gain of toxic function.
Created: 12 Jun 2020, 4:29 a.m. | Last Modified: 12 Jun 2020, 4:29 a.m.
Panel Version: 0.3050

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, axonal, type 2CC, MIM#616924

Publications

Mode of pathogenicity
Other

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

Created: 12 Jun 2020, 4:29 a.m.
Last Modified: 12 Jun 2020, 4:29 a.m.
Panel version: Imported from Mendeliome panel version 0.3050

Details

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

History Filter Activity

13 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nefh has been classified as Green List (High Evidence).

13 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NEFH were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NEFH was added gene: NEFH was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: NEFH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: NEFH were set to Charcot-Marie-Tooth disease, axonal, type 2CC, 616924; HMSN