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Auditory Neuropathy

Gene: NEFL

Green List (high evidence)
NEFL (neurofilament light)
EnsemblGeneIds (GRCh38): ENSG00000277586
EnsemblGeneIds (GRCh37): ENSG00000104725
OMIM: 162280, Gene2Phenotype
NEFL is in 6 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Auditory neuropathy can be a feature of the condition. Auditory neuropathy segregated with Glu397Lys as a feature of the condition in a single family (PMID: 18023247). Hearing loss assessed by brainstem auditory evoked potentials (BAEP) was also identified in 4 unrelated cases with heterozygous missense, but did not segregate with CMT within the families (PMID: 17052987). Hearing impairment was reported in 4 unrelated cases with 3 different missense variants, but it is unknown if this is due to auditory neuropathy (PMID: 19158810).
Created: 13 Nov 2020, 5:28 a.m. | Last Modified: 13 Nov 2020, 5:28 a.m.
Panel Version: 0.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Syndromic auditory neuropathy spectrum disorder

Publications

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

Created: 13 Nov 2020, 5:28 a.m.
Last Modified: 13 Nov 2020, 5:28 a.m.
Panel version: 0.15

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Syndromic auditory neuropathy spectrum disorder
OMIM
162280
Clinvar variants
Variants in NEFL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

13 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

13 Nov 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NEFL was added gene: NEFL was added to Auditory Neuropathy. Sources: Literature Mode of inheritance for gene: NEFL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NEFL were set to 21176974 Phenotypes for gene: NEFL were set to Syndromic auditory neuropathy spectrum disorder