Muscular dystrophy and myopathy_Paediatric

Gene: DNM2

Green List (high evidence)

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

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

PMID: 17932957, 19122038
Multiple individuals with centronuclear myopathy.
Age of onset is variable but typically in the early childhood.
Sources: Other
Created: 5 May 2023, 1:20 a.m.

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

Phenotypes
Centronuclear Myopathy 1 (MIM#160150; MONDO:0008048)

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Weakness may be present during childhood or adolescence or may not become evident until the third decade of life, and some affected individuals become wheelchair-bound in their fifties.
Sources: Expert list
Created: 11 Jun 2020, 8:59 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Centronuclear myopathy 1, MIM# 160150

Publications

Details

History Filter Activity

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

5 May 2023, Gel status: 0

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

Sangavi Sivagnanasundram (Melbourne Health)

gene: DNM2 was added gene: DNM2 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DNM2 were set to 17932957; 19122038 Phenotypes for gene: DNM2 were set to Centronuclear Myopathy 1 (MIM#160150; MONDO:0008048) Review for gene: DNM2 was set to GREEN