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Deafness_IsolatedAndComplex

Gene: NDRG1

Green List (high evidence)

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

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

History Filter Activity

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ndrg1 has been classified as Green List (High Evidence).

7 Dec 2020, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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

7 Dec 2020, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: NDRG1 were set to

7 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ndrg1 has been classified as Green List (High Evidence).

7 Dec 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

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