Auditory Neuropathy
Gene: NDRG1EnsemblGeneIds (GRCh38): ENSG00000104419
EnsemblGeneIds (GRCh37): ENSG00000104419
OMIM: 605262, Gene2Phenotype
NDRG1 is in 7 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A founder mutation (R148X) was originally identified in cases of Romani ethnicity, where auditory neuropathy along with motor and sensory neuropathy. Deafness due to auditory neuropathy has been reported in at least 3 non-Romani families.Created: 13 Nov 2020, 4:53 a.m. | Last Modified: 13 Nov 2020, 4:53 a.m.
Panel Version: 0.14
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Charcot-Marie-Tooth disease, type 4D MIM#601455; Syndromic auditory neuropathy spectrum disorder; Hereditary motor and sensory neuropathy Lom
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Charcot-Marie-Tooth disease, type 4D MIM#601455
- Syndromic auditory neuropathy spectrum disorder
- OMIM
- 605262
- Clinvar variants
- Variants in NDRG1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ndrg1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ndrg1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: NDRG1 was added gene: NDRG1 was added to Auditory Neuropathy. Sources: Literature Mode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDRG1 were set to 21176974 Phenotypes for gene: NDRG1 were set to Charcot-Marie-Tooth disease, type 4D MIM#601455; Syndromic auditory neuropathy spectrum disorder