GMS Musculoskeletal specialist test group 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

1 review

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, 11:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ie 608799

Publications

Created: 6 Mar 2019, 11:52 a.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

Congenital disorder of glycosylation, type Ie 608799

OMIM

603503

Clinvar variants

Variants in DPM1

Penetrance

None

Panels with this gene

History Filter Activity

6 Mar 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: DPM1 was added gene: DPM1 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: DPM1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPM1 were set to Congenital disorder of glycosylation, type Ie 608799

GMS Musculoskeletal specialist test group Skeletal dysplasia Gene: DPM1