Congenital disorders of glycosylation
Gene: DPM2
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 9:14 a.m. | Last Modified: 1 Feb 2023, 9:14 a.m.
Panel Version: 3.4
Comment on list classification: Associated with relevant phenotype in OMIM (MIM# 615042). Sufficient number of unrelated cases (3) with DPM2-CDG to rate Green at the next GMS panel update (PMIDs: 23109149; 33129689)Created: 20 Apr 2021, 10:11 a.m. | Last Modified: 20 Apr 2021, 10:11 a.m.
Panel Version: 2.68
Third unrelated family reported.Created: 9 Dec 2020, 6:55 a.m. | Last Modified: 9 Dec 2020, 6:55 a.m.
Panel Version: 2.18
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Iu, MIM#615042
Publications
DPM2 should be rated as green due to the following: PMID 23109149 describes 3 children from 2 families with muscular dystrophy-dystroglycanopathy, plus good functional evidence this class of CDG can be associated with CMD - Arianna Tucci (Genomics England Clinical Fellow), Jan. 25, 2017, 4:41 p.m.Created: 17 Dec 2019, 1:49 p.m. | Last Modified: 17 Dec 2019, 1:49 p.m.
Panel Version: 2.0
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. Two variants reported in one compound heterozygous and one homozygous patientCreated: 15 Dec 2016, 4:40 p.m.
Dystroglycanopathy like symptoms
Created: 12 Dec 2016, 2:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Tag Q2_21_rating was removed from gene: DPM2.
Source Expert Review Green was added to DPM2. Source NHS GMS was added to DPM2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: DPM2 were changed from Congenital disorder of glycosylation, type Iu 615042 to Congenital disorder of glycosylation, type Iu, OMIM:615042
Publications for gene: DPM2 were set to 23109149
Gene: dpm2 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: DPM2.
Promoted to V1 19th December 2016
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for DPM2 were set to 23109149
DPM2 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
DPM2 was added to Congenital disorders of glycosylationpanel. Source: Other Model of inheritance for gene DPM2 was set to BIALLELIC, autosomal or pseudoautosomal
DPM2 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
DPM2 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
DPM2 was created by sleigh