Congenital muscular dystrophy

Gene: DPM2

Green List (high evidence)

DPM2 (dolichyl-phosphate mannosyltransferase subunit 2, regulatory)
EnsemblGeneIds (GRCh38): ENSG00000136908
EnsemblGeneIds (GRCh37): ENSG00000136908
OMIM: 603564, Gene2Phenotype
DPM2 is in 11 panels

5 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (Congenital Muscular Dystrophy Gene Panel 207-London South GLH.xlsx) collated by Rachael Mein, Viapath Guy's Hospital February 2019 on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 29 Apr 2019, 3:37 p.m.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Musclular dystrophy dystroglycanopathy syndrome with severe epilepsy; Congenital disorder of glycosylation, type Iu 615042

Publications

Variants in this GENE are reported as part of current diagnostic practice

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

23109149 describes 3 children from 2 families with muscular dystrophy-dystroglycanopathy, plus good functional evidence this class of CDG can be associated with CMD
Created: 25 Jan 2017, 4:41 p.m.
23109149 describes 3 children from 2 families with muscular dystrophy-dystroglycanopathy, plus good functional evidence this class of CDG can be associated with CMD
Created: 25 Jan 2017, 4:41 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Iu 615042

Publications

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted to green due to internal review by Clinical Fellow.
Created: 27 Jan 2017, 1:48 p.m.
Comment on list classification: Promoted to green due to internal review by Clinical Fellow.
Created: 27 Jan 2017, 1:48 p.m.
Comment on list classification: Borderline evidence: Two brothers and an unrelated patient reported in PMID: 23109149.
Created: 25 Jan 2017, 11:42 a.m.
Comment on list classification: Promoted from red to amber due to reviewer's comment.
Created: 25 Jan 2017, 11:38 a.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 Green
  • Emory Genetics Laboratory
Phenotypes
  • musclular dystrophy dystroglycanopathy syndrome with severe epilepsy
  • Congenital disorder of glycosylation, type Iu 615042
OMIM
603564
Clinvar variants
Variants in DPM2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene DPM2 were changed from 23109149; 19901254 to 19901254; 23109149

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DPM2.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to DPM2. Rating Changed from Green List (high evidence) to Green List (high evidence)

27 Jan 2017, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

27.01.2017 Panel revised after expert review and internal review with further curation.

27 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

27 Jan 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for DPM2 was changed to BIALLELIC, autosomal or pseudoautosomal

27 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

27 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

25 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

25 Jan 2017, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for DPM2 were set to musclular dystrophy dystroglycanopathy syndrome with severe epilepsy;Congenital disorder of glycosylation, type Iu 615042

25 Jan 2017, Gel status: 2

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DPM2 were set to 23109149; 19901254

25 Jan 2017, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

25 Jan 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for DPM2 were set to 23109149

19 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DPM2 was added to Congenital muscular dystrophypanel. Source:

23 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

DPM2 was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory