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  3. NEFH
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Optic neuropathy

Gene: NEFH

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

1 review

Tom Cullup (Great Ormond Street Hospital)

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, 616924

Created: 19 Mar 2019, 3:33 p.m.

Panel version: 1.28

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • 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

19 Mar 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: NEFH were changed from to CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, 616924

19 Mar 2019, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: NEFH was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

19 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: NEFH was added gene: NEFH was added to Optic neuropathy. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NEFH was set to