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Arthrogryposis

Gene: DNM2

Green List (high evidence)

DNM2 (dynamin 2)
EnsemblGeneIds (GRCh38): ENSG00000079805
EnsemblGeneIds (GRCh37): ENSG00000079805
OMIM: 602378, Gene2Phenotype
DNM2 is in 14 panels

1 review

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

Details

Mode of Inheritance
BIALLELIC, 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
Panels with this gene

History Filter Activity

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

Set Mode of Inheritance

Alice Gardham (Genomics England)

Mode of inheritance for DNM2 was changed to BIALLELIC, autosomal or pseudoautosomal

16 Jan 2017, Gel status: 4

Set publications

Alice Gardham (Genomics England)

Publications for DNM2 were set to 23092955

16 Jan 2017, Gel status: 4

Set Phenotypes

Alice Gardham (Genomics England)

Phenotypes for DNM2 were set to Lethal congenital contracture syndrome 5 615368

16 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

4 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

22 Dec 2016, Gel status: 2

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Amber List (Moderate Evidence).

21 Dec 2016, Gel status: 3

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

DNM2 was added to Arthrogryposispanel. Source: Illumina TruGenome Clinical Sequencing Services DNM2 was added to Arthrogryposispanel. Source: UKGTN DNM2 was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen DNM2 was added to Arthrogryposispanel. Source: Expert Model of inheritance for gene DNM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DNM2 was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DNM2 was created by ellenmcdonagh