Congenital disorders of glycosylation
Gene: DPM1

DPM1 (dolichyl-phosphate mannosyltransferase subunit 1, catalytic)
EnsemblGeneIds (GRCh38): ENSG00000000419
EnsemblGeneIds (GRCh37): ENSG00000000419
OMIM: 603503, Gene2Phenotype
DPM1 is in 12 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 7 variants reported.
Created: 15 Dec 2016, 4:31 p.m.

Created: 15 Dec 2016, 4:31 p.m.

Panel version: 0.57

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

N-glycosylation CDG-Type I with dystroglycanopathy like symptoms as well
Created: 12 Dec 2016, 2:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

23856421

Created: 12 Dec 2016, 2:14 p.m.

Panel version: 0.5

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN
Radboud University Medical Center, Nijmegen
Literature
Illumina TruGenome Clinical Sequencing Services
Emory Genetics Laboratory

Phenotypes

Congenital disorder of glycosylation, type Ie, OMIM:608799
GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)

OMIM

603503

Clinvar variants

Variants in DPM1

Penetrance

Complete

Publications

23856421

Panels with this gene

History Filter Activity

1 Jul 2021, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: DPM1 were changed from Congenital disorder of glycosylation, type Ie 608799; GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Congenital disorder of glycosylation, type Ie, OMIM:608799; GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)

19 Dec 2016, Gel status: 4