1. Panels
  2. Hereditary Neuropathy_CMT - isolated
  3. NDRG1
STRs in panel
Prev Next
Regions in panel
Prev Next

Hereditary Neuropathy_CMT - isolated

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Charcot-Marie-Tooth disease type 4D (CMT4D) is characterized by early-onset distal muscle weakness and atrophy, foot deformities, and sensory loss affecting all modalities. Affected individuals develop deafness by the third decade of life.

Although initially reported in the Roma (founder variant), multiple other individuals from different ethnicities also reported since. Dog model.
Created: 8 May 2021, 3:34 a.m. | Last Modified: 8 May 2021, 3:34 a.m.
Panel Version: 0.133

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, type 4D, MIM# 601455

Publications

Created: 8 May 2021, 3:34 a.m.
Last Modified: 8 May 2021, 3:34 a.m.
Panel version: 0.133

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • HMSN
  • Charcot Marie Tooth disease, type 4D, 601455
  • MONDO:0011085
Tags
founder
OMIM
605262
Clinvar variants
Variants in NDRG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

8 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NDRG1 were changed from HMSN; Charcot Marie Tooth disease, type 4D, 601455 to HMSN; Charcot Marie Tooth disease, type 4D, 601455; MONDO:0011085

8 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NDRG1 were set to

8 May 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: NDRG1.

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: NDRG1 was added gene: NDRG1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDRG1 were set to HMSN; Charcot Marie Tooth disease, type 4D, 601455