Neuromuscular arthrogryposis

Gene: DNM2

Green List (high evidence)

DNM2 (dynamin 2)
EnsemblGeneIds (GRCh38): ENSG00000079805
EnsemblGeneIds (GRCh37): ENSG00000079805
OMIM: 602378, Gene2Phenotype
DNM2 is in 13 panels

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital May 2019 on behalf of London South GLH for the GMS Neurology specialist test group
Created: 16 May 2019, 9:33 p.m.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Myopathy, centronuclear, 160150

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • London South GLH
Phenotypes
  • Myopathy, centronuclear, 160150
OMIM
602378
Clinvar variants
Variants in DNM2
Penetrance
None
Panels with this gene

History Filter Activity

16 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DNM2.

16 May 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to DNM2. Rating Changed from Red List (low evidence) to Green List (high evidence)

16 May 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: DNM2 was added gene: DNM2 was added to Neuromuscular arthrogryposis. Sources: London South GLH Mode of inheritance for gene: DNM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: DNM2 were set to Myopathy, centronuclear, 160150