Skeletal dysplasia
Gene: DPM1

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Possibly listed under lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp) in SD nosology paper. Several cases reported -skeletal features aren't listed in all cases but include small hands, knee contractures in one case (Imbach et al 2000), trigonocephaly and camptodactyly in a second (Garcia-Silva et al 2004), third case had camptodactly (Yang et al 2013). Green if considered SD.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ie 608799

Publications

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: DPM1; Initial rating suggestion: green if considered SD
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reported
Created: 28 Jul 2016, 9:57 a.m.

Created: 28 Jul 2016, 9:57 a.m.

Panel version: 0.835

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 3
Created: 17 Jun 2016, 8:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ie 608799

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jun 2016, 8:03 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

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

Phenotypes

Congenital disorder of glycosylation, type Ie, OMIM:608799

OMIM

603503

Clinvar variants

Variants in DPM1

Penetrance

Complete

Publications

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 to Congenital disorder of glycosylation, type Ie, OMIM:608799

6 May 2019, Gel status: 4

Set Phenotypes, Set publications

Eleanor Williams (Genomics England Curator)

Added phenotypes Congenital disorder of glycosylation, type Ie 608799 for gene: DPM1 Publications for gene DPM1 were changed from to 23856421; 10642602; 15669674

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to DPM1. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4