Congenital disorders of glycosylation

Gene: DPM2

Green List (high evidence)

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

Green List (high evidence)

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

• 23109149
• 33129689

Green List (high evidence)

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 patient

Created: 15 Dec 2016, 4:40 p.m.

Green List (high evidence)

Dystroglycanopathy like symptoms

Created: 12 Dec 2016, 2:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 23109149