DNM2, dynamin 2, 1785

N. diseases: 178; N. variants: 30
Disease: Centronuclear myopathy ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121909091
rs121909091
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C0175709
Disease:
Centronuclear myopathy 		0.720 GeneticVariation BEFREE As <i>DNM2</i> is mutated in autosomal dominant forms, here we tested whether DNM2 reduction can rescue <i>DNM2</i>-related CNM in a knock-in mouse harboring the p.R465W mutation (<i>Dnm2</i><sup>RW/+</sup>) and displaying a mild CNM phenotype similar to patients with the same mutation. 30291191 2018
dbSNP: rs121909091
rs121909091
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C0175709
Disease:
Centronuclear myopathy 		0.720 GeneticVariation BEFREE Further targeted Sanger DNA sequencing of DNM2 found the 1106G>A (p.R369Q) mutation in patients 1 and 2, the c.1393C>T (p.R465W) mutation in patient 3, and the c.1565G>A (p.R522H) mutation in patient 4, all of which were reported previously to be causative mutations of DNM2-related CNM. 26908122 2016
dbSNP: rs121909091
rs121909091
Entrez Id: 1785
Gene Symbol: DNM2
DNM2
CUI: C0175709
Disease:
Centronuclear myopathy 		T 0.720 CausalMutation CLINVAR