Genes in panel

STRs in panel

Prev Next

DMPK_CTG 2

Regions in panel

Prev Next

Congenital muscular dystrophy
Gene: DPM2

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

Created: 29 Apr 2019, 3:37 p.m.

Panel version: 1.43

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

Created: 29 Apr 2019, 3:27 p.m.

Panel version: 1.24

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.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Iu 615042

Publications

23109149

Created: 25 Jan 2017, 4:41 p.m.

Panel version: 0.111

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: 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.

Created: 25 Jan 2017, 11:38 a.m.

Panel version: 0.88

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.

Created: 19 Dec 2016, 11:47 a.m.

Panel version: 0.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
London South GLH
Expert Review Green
Emory Genetics Laboratory

Phenotypes

Congenital disorder of glycosylation, type Iu, OMIM:615042

OMIM

603564

Clinvar variants

Variants in DPM2

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

3 Feb 2023, Gel status: 3

Removed Source

Arina Puzriakova (Genomics England Curator)

Source was removed from DPM2.

20 Apr 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DPM2 were changed from musclular dystrophy dystroglycanopathy syndrome with severe epilepsy; Congenital disorder of glycosylation, type Iu 615042 to Congenital disorder of glycosylation, type Iu, OMIM:615042

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