Genes in panel

Hereditary neuropathy

Gene: DNM2

Green List (high evidence)

DNM2 (dynamin 2)
EnsemblGeneIds (GRCh38): ENSG00000079805
EnsemblGeneIds (GRCh37): ENSG00000079805
OMIM: 602378, Gene2Phenotype
DNM2 is in 14 panels

8 reviews

Natalie Forrester (SWGLH - Bristol Genetics)

Green List (high evidence)

Multiple C4s in Bristol. PMID: 15731758 - mutations in three unrelated families with CMT
Created: 29 Apr 2019, 12:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Charcot-Marie-Tooth, Intermediate ; Charcot Marie Tooth disease, dominant intermediate B, 606482; Charcot Marie Tooth disease, axonal, type 2M, 606482; Myopathy, centronuclear, 160150; Lethal congenital contracture syndrome 5, 615368

Publications

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

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.

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

Green List (high evidence)

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

Rita Horvath (Institute of Genetic Medicine, Newcastle University)

Green List (high evidence)

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

Alexander Rossor (UCL Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Mary Reilly (Institute of Neurology)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Thalia Antoniadi (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Ellen McDonagh (Genomics England Curator)

Is on the Charcot-Marie- Tooth disease type 2 / 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, 1:03 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Charcot Marie Tooth disease, dominant intermediate B, 606482
  • Myopathy, centronuclear, 160150
  • Myopathy, centronuclear, 160150
  • Lethal congenital contracture syndrome 5, 615368
  • Charcot Marie Tooth disease, axonal, type 2M, 606482
  • Charcot-Marie-Tooth, Intermediate
  • Lethal congenital contracture syndrome 5, 615368
  • Charcot Marie Tooth disease, axonal, type 2M, 606482
  • Charcot-Marie-Tooth, Intermediate
OMIM
602378
Clinvar variants
Variants in DNM2
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, dominant intermediate B, 606482; Charcot Marie Tooth disease, axonal, type 2M, 606482; Myopathy, centronuclear, 160150; Lethal congenital contracture syndrome 5, 615368; Charcot-Marie-Tooth, Intermediate for gene: DNM2 Publications for gene DNM2 were changed from to 15731758

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to DNM2.

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DNM2.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to DNM2. Rating Changed from Green List (high evidence) to Green List (high evidence)

3 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DNM2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DNM2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DNM2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DNM2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DNM2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DNM2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

DNM2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,UKGTN,Emory Genetics Laboratory

20 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DNM2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

DNM2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,UKGTN,Emory Genetics Laboratory

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DNM2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DNM2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,UKGTN,Emory Genetics Laboratory

20 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene DNM2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

20 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

DNM2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,UKGTN,Emory Genetics Laboratory

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DNM2 was added to Charcot-Marie-Tooth diseasepanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list,UKGTN,Emory Genetics Laboratory