Skeletal dysplasia
Gene: DPM1
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 LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation, type Ie 608799
Publications
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 SDCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 28 Jul 2016, 9:57 a.m.
Tier 3Created: 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
Phenotypes for gene: DPM1 were changed from Congenital disorder of glycosylation, type Ie 608799 to Congenital disorder of glycosylation, type Ie, OMIM:608799
Added phenotypes Congenital disorder of glycosylation, type Ie 608799 for gene: DPM1 Publications for gene DPM1 were changed from to 23856421; 10642602; 15669674
Source NHS GMS was added to DPM1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for DPM1 were set to Congenital disorder of glycosylation, type Ie 608799
Mode of inheritance for DPM1 was changed to BIALLELIC, autosomal or pseudoautosomal
DPM1 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
DPM1All sources for gene: DPM1 were removed
DPM1 was created by sleigh
DPM1 was added to Unexplained skeletal dysplasiapanel. Sources: