Congenital muscular dystrophy and congenital myopathy
Gene: DPM2EnsemblGeneIds (GRCh38): ENSG00000136908
EnsemblGeneIds (GRCh37): ENSG00000136908
OMIM: 603564, Gene2Phenotype
DPM2 is in 10 panels
5 reviews
Louise Daugherty (Genomics England Curator)
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)
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)
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
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)
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
-
- London South GLH
- Expert Review Green
- Emory Genetics Laboratory
- NHS GMS
- Phenotypes
-
- Congenital disorder of glycosylation, type Iu, OMIM:615042
- OMIM
- 603564
- Clinvar variants
- Variants in DPM2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Likely inborn error of metabolism
- Congenital disorders of glycosylation
- Intellectual disability
- Early onset or syndromic epilepsy
- Undiagnosed metabolic disorders
- Fetal anomalies
- Skeletal dysplasia
- Arthrogryposis
- Congenital muscular dystrophy
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: DPM2 was added gene: DPM2 was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Emory Genetics Laboratory,Expert Review Green,London South GLH Mode of inheritance for gene: DPM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPM2 were set to 19901254; 23109149 Phenotypes for gene: DPM2 were set to Congenital disorder of glycosylation, type Iu, OMIM:615042 Penetrance for gene: DPM2 were set to Complete