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  2. Hereditary Neuropathy_CMT - isolated
  3. DNM2
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Hereditary Neuropathy_CMT - isolated

Gene: DNM2

Green List (high evidence)
DNM2 (dynamin 2)
EnsemblGeneIds (GRCh38): ENSG00000079805
EnsemblGeneIds (GRCh37): ENSG00000079805
OMIM: 602378, Gene2Phenotype
DNM2 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mono-allelic variants in this gene also cause a myopathy, and bi-allelic variants cause a more severe arthrogryposis phenotype.

At least 5 families reported with neuropathy.
Created: 26 May 2021, 9:49 p.m. | Last Modified: 26 May 2021, 9:49 p.m.
Panel Version: 0.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482; Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; MONDO:0011674

Publications

Created: 26 May 2021, 9:49 p.m.
Last Modified: 26 May 2021, 9:49 p.m.
Panel version: 0.188

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482
  • Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482
  • MONDO:0011674
OMIM
602378
Clinvar variants
Variants in DNM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dnm2 has been classified as Green List (High Evidence).

26 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: DNM2 were changed from HMSN; Myopathy, centronuclear, 160150; Lethal congenital contracture syndrome 5, 615368; Charcot Marie Tooth disease, axonal, type 2M, 606482 to Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482; Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482; MONDO:0011674

26 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DNM2 were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: DNM2 was added gene: DNM2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DNM2 were set to HMSN; Myopathy, centronuclear, 160150; Lethal congenital contracture syndrome 5, 615368; Charcot Marie Tooth disease, axonal, type 2M, 606482