Congenital myopathy

Gene: DNM2

Green List (high evidence)

DNM2 (dynamin 2)
EnsemblGeneIds (GRCh38): ENSG00000079805
EnsemblGeneIds (GRCh37): ENSG00000079805
OMIM: 602378, Gene2Phenotype
DNM2 is in 15 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 30 Apr 2019, 10:09 a.m.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

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

Phenotypes
Myopathy, centronuclear, 160150; Charcot-Marie-Tooth disease, axonal, type 2M, 606482

Publications

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

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

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

Phenotypes
Myopathy, centronuclear, 160150; Charcot-Marie-Tooth disease, axonal, type 2M, 606482

Publications

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Missense mutations reported in both phenotypes (centronuclear myopathy and CMT)
Created: 2 Feb 2017, 11:41 a.m.
Many reported families / mutations. Only missense in centronuclear myopathy but one frameshift found in relation to CMT presentation. The majority appear to present in childhood / early adulthood but specific mutations p.Ala618Thr and p.Ser619Trp/Leu present in neonatal phase therefore appropriate for congenital panel.
Created: 26 Jan 2017, 10:38 a.m.

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

Phenotypes
Myopathy, centronuclear 160150

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Myopathy, centronuclear, 160150
  • Charcot-Marie-Tooth disease, axonal, type 2M, 606482
Tags
missense
OMIM
602378
Clinvar variants
Variants in DNM2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

30 Apr 2019, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DNM2 were set to 22396310; 15689448

30 Apr 2019, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DNM2 were set to 22396310

30 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DNM2.

30 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

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

22 Feb 2017, Gel status: 4

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.

2 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

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

2 Feb 2017, Gel status: 3

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for DNM2 were set to Myopathy, centronuclear, 160150; Charcot-Marie-Tooth disease, axonal, type 2M, 606482

2 Feb 2017, Gel status: 3

Set publications

Helen Brittain (Genomics England Curator)

Publications for DNM2 were set to 22396310

13 May 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

DNM2 was added to Congenital myopathypanel. Sources: Expert

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

DNM2 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

DNM2 was added to Congenital myopathypanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

DNM2 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services