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Arthrogryposis

Gene: DPM2

Amber List (moderate evidence)

DPM2 (dolichyl-phosphate mannosyltransferase subunit 2, regulatory)
EnsemblGeneIds (GRCh38): ENSG00000136908
EnsemblGeneIds (GRCh37): ENSG00000136908
OMIM: 603564, Gene2Phenotype
DPM2 is in 10 panels

2 reviews

Alice Gardham (Genomics England)

Comment on list classification: Only 3 patients from 2 families. Two sibs had congenital contractures
Created: 4 Jan 2017, 12:37 p.m.

Emma Clement (Great Ormond Street Hospital)

I don't know

2 families with CMD-CDG overlap see comment for DPM1 (messina 2009, Barone 2012,)
Created: 19 Dec 2016, 11:47 a.m.

Phenotypes
congenital muscular dystrophies. DPM2-CDG . Musclular dystrophy dystroglycanopathy syndrome with severe epilepsy.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • congenital muscular dystrophies
  • congenital muscular dystrophies. DPM2-CDG . Musclular dystrophy dystroglycanopathy syndrome with severe epilepsy.
OMIM
603564
Clinvar variants
Variants in DPM2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 2

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.

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).

4 Jan 2017, Gel status: 2

Set publications

Alice Gardham (Genomics England)

Publications for DPM2 were set to 23109149

4 Jan 2017, Gel status: 2

Set publications

Alice Gardham (Genomics England)

Publications for DPM2 were set to 23109149

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).

21 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DPM2 was added to Arthrogryposispanel. Source: Emory Genetics Laboratory DPM2 was added to Arthrogryposispanel. Source:

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

DPM2 was created by ellenmcdonagh

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

DPM2 was added to Arthrogryposispanel. Sources: Expert list