Congenital muscular dystrophy
Gene: DPM2
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.
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
23109149 describes 3 children from 2 families with muscular dystrophy-dystroglycanopathy, plus good functional evidence this class of CDG can be associated with CMDCreated: 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 CMDCreated: 25 Jan 2017, 4:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Iu 615042
Publications
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.
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.
Source was removed from DPM2.
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
Publications for gene DPM2 were changed from 23109149; 19901254 to 19901254; 23109149
Source NHS GMS was added to DPM2.
Source London South GLH was added to DPM2. Rating Changed from Green List (high evidence) to Green List (high evidence)
27.01.2017 Panel revised after expert review and internal review with further curation.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for DPM2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for DPM2 were set to musclular dystrophy dystroglycanopathy syndrome with severe epilepsy;Congenital disorder of glycosylation, type Iu 615042
Publications for DPM2 were set to 23109149; 19901254
This gene has been classified as Amber List (Moderate Evidence).
Publications for DPM2 were set to 23109149
DPM2 was added to Congenital muscular dystrophypanel. Source:
DPM2 was added to Congenital muscular dystrophypanel. Sources: Emory Genetics Laboratory