Deafness_IsolatedAndComplex
Gene: NDRG1
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
Gene: ndrg1 has been classified as Green List (High Evidence).
Phenotypes for gene: NDRG1 were changed from to Charcot-Marie-Tooth disease, type 4D MIM#601455; Syndromic auditory neuropathy spectrum disorder; Hereditary motor and sensory neuropathy Lom
Publications for gene: NDRG1 were set to
Gene: ndrg1 has been classified as Green List (High Evidence).
gene: NDRG1 was added gene: NDRG1 was added to Deafness_IsolatedAndComplex. Sources: Literature Mode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal