Congenital disorders of glycosylation
Gene: MPDU1

MPDU1 (mannose-P-dolichol utilization defect 1)
EnsemblGeneIds (GRCh38): ENSG00000129255
EnsemblGeneIds (GRCh37): ENSG00000129255
OMIM: 604041, Gene2Phenotype
MPDU1 is in 10 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 5 variants reported in 4 cases.
Created: 19 Dec 2016, 10:34 a.m.

Created: 19 Dec 2016, 10:34 a.m.

Panel version: 0.85

Daniel Ungar (University of York, Department of Biology)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

11733556

Created: 13 Dec 2016, 12:02 p.m.

Panel version: 0.12

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 If, OMIM:609180
Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways)

OMIM

604041

Clinvar variants

Variants in MPDU1

Penetrance

Complete

Publications

11733556

Panels with this gene

History Filter Activity

2 Apr 2026, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MPDU1 were changed from Congenital disorder of glycosylation, type If 609180; Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Congenital disorder of glycosylation, type If, OMIM:609180; Lec35 deficiency (Disorders of multiple glycosylation and other glycosylation pathways)

19 Dec 2016, Gel status: 4