Arthrogryposis
Gene: DNM2

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

2 reviews

Arina Puzriakova (Genomics England Curator)

The recent MOI update on this panel was done following an audit of genes with different MOIs on component panels of the same superpanel. These were reviewed by the curation team accounting for respective panel scope and final MOIs were validated by the Genomics England clinical team.
Created: 3 Aug 2022, 3:18 p.m. | Last Modified: 3 Aug 2022, 3:18 p.m.

Panel Version: 3.161

The mode of inheritance of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 11:29 a.m. | Last Modified: 9 Mar 2022, 11:29 a.m.

Panel Version: 3.152

Created: 9 Mar 2022, 11:29 a.m.
Last Modified: 9 Mar 2022, 11:29 a.m.
Panel version: 3.161

Alice Gardham (Genomics England)

I don't know

Comment on list classification: Made green after internal discussion
Created: 16 Jan 2017, 12:01 p.m.

Comment on list classification: Moderate evidence for arthrogryposis
Created: 22 Dec 2016, 9:21 a.m.

Lethal congenital contracture syndrome -mutations only identified in three siblings although supported by animal models
Created: 22 Dec 2016, 9:21 a.m.

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

Phenotypes
Lethal congenital contracture syndrome 5 615368

Publications

23092955

Created: 22 Dec 2016, 9:21 a.m.

Panel version: 1.33

Details

Mode of Inheritance

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

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Expert
Illumina TruGenome Clinical Sequencing Services
Expert list

Phenotypes

Lethal congenital contracture syndrome 5 615368

OMIM

602378

Clinvar variants

Variants in DNM2

Penetrance

Complete

Publications

23092955

Panels with this gene

History Filter Activity

9 Mar 2022, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene DNM2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

16 Jan 2017, Gel status: 4

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

16 Jan 2017, Gel status: 4