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Hereditary neuropathy
Gene: NDRG1

NDRG1 (N-myc downstream regulated 1)
EnsemblGeneIds (GRCh38): ENSG00000104419
EnsemblGeneIds (GRCh37): ENSG00000104419
OMIM: 605262, Gene2Phenotype
NDRG1 is in 3 panels

8 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

Green List (high evidence)

One particularly common variant p.Arg148 reported multiple times in literature and in 3 probands in Bristol. PMID:28776325 - identified possible role of NDRG1 in intracellular protein trafficking. 12 entries in HGMD for the common variant p.Arg148, original ref is PMID: 10831399
Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot Marie Tooth disease, type 4D, 601455

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 29 Apr 2019, 12:30 p.m.

Panel version: 1.58

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 5 p.m.

Review and rating submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 29 Apr 2019, 12:53 p.m.

Created: 29 Apr 2019, 9:26 a.m.

Panel version: 1.80

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Variants in this GENE are reported as part of current diagnostic practice

Created: 29 Apr 2019, 9:20 a.m.

Panel version: 1.52

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Is on the Charcot-Marie- Tooth disease type 1 / Intermediate CMT NGS Panel in the UCLH National Hospital for Neurology and Neurosurgery & Institute of Neurology (NHNN) Neurogenetics genetic testing manual.
Created: 10 Jun 2016, 12:59 p.m.

Created: 10 Jun 2016, 12:59 p.m.

Panel version: 0.193

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

South West GLH
NHS GMS
London North GLH
Expert Review Green
Emory Genetics Laboratory
UKGTN
Radboud University Medical Center, Nijmegen
Expert list
Illumina TruGenome Clinical Sequencing Services

Phenotypes

Charcot Marie Tooth disease, type 4D, 601455
Charcot Marie Tooth disease, type 4D, 601455

OMIM

605262

Clinvar variants

Variants in NDRG1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Charcot Marie Tooth disease, type 4D, 601455 for gene: NDRG1 Publications for gene NDRG1 were changed from to 28776325; 10831399

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to NDRG1.

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to NDRG1.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to NDRG1. Rating Changed from Green List (high evidence) to Green List (high evidence)

3 May 2016, Gel status: 4