Distal myopathies

Gene: DNM2

Green List (high evidence)

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

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Can present with predominantly distal muscle involvement
Created: 20 Feb 2017, 4:12 p.m.
can present with distal muscle involvement as discussed with expert Dr Bugiardini (UCL Institute of Neurology)
Created: 9 Feb 2017, 2:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy, centronuclear, 160150

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

9 Feb 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

DNM2 was added to Distal myopathiespanel. Sources: Expert Review

9 Feb 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

DNM2 was created by arianna