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  3. NEFH
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Motor Neurone Disease

Gene: NEFH

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Limited gene-disease validity classification by ClinGen ALS spectrum disorders GCEP - 23/03/2023
https://search.clinicalgenome.org/CCID:005612
Sources: ClinGen
Created: 21 Apr 2024, 3:30 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
amyotrophic lateral sclerosis MONDO:0004976

Created: 21 Apr 2024, 3:30 a.m.

Panel version: 1.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • amyotrophic lateral sclerosis MONDO:0004976
OMIM
162230
Clinvar variants
Variants in NEFH
Penetrance
None
Panels with this gene

History Filter Activity

21 Apr 2024, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: nefh has been classified as Red List (Low Evidence).

21 Apr 2024, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NEFH was added gene: NEFH was added to Motor Neurone Disease. Sources: ClinGen Mode of inheritance for gene: NEFH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NEFH were set to amyotrophic lateral sclerosis MONDO:0004976 Review for gene: NEFH was set to RED