Deafness_IsolatedAndComplex
Gene: NDRG1

NDRG1 (N-myc downstream regulated 1)
EnsemblGeneIds (GRCh38): ENSG00000104419
EnsemblGeneIds (GRCh37): ENSG00000104419
OMIM: 605262, Gene2Phenotype
NDRG1 is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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

Created: 13 Nov 2020, 4:53 a.m.
Last Modified: 13 Nov 2020, 4:53 a.m.
Panel version: Imported from Auditory Neuropathy panel version 0.14

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Literature
Literature

Phenotypes

Charcot-Marie-Tooth disease, type 4D MIM#601455
Syndromic auditory neuropathy spectrum disorder
Hereditary motor and sensory neuropathy Lom

OMIM

605262

Clinvar variants

Variants in NDRG1

Penetrance

None

Publications

Panels with this gene