Inborn errors of metabolismGene: DPM3
Comment on list classification: This gene was part of an initial gene list collated by Emma Ashton on behalf of the London North GLH, for GMS Metabolic Consensus Specialist Test Group. Additional information was not provided, such as mode of inheritance and phenotype.
Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 2 variants reported as homozygotes in two unrelated cases, together with segregation and supportive functional studies.
Created: 13 Aug 2019, 1:28 p.m. | Last Modified: 13 Aug 2019, 1:28 p.m.
Panel Version: 1.118
Probable DD gene for CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O. One patient reported in PMID:19576565, and a zebrafish and yeast models have been reported (PMID: 27291147, 21521073). Both DPM1 and DPM2 with DPM3 form the Dolichol-phosphate mannose (DPM) synthase enzyme (PMID:10835346), and these two genes are green on this panel as more patient cases have been reported for variants within this gene. DPM2 stabilizes DPM3 and DPM3 stabilizes DPM1 (PMID:10835346). A DPM1 variant in an infant with the phenotype of a congenital muscular dystrophy was reported to affect binding to DPM3 (PMID: 23856421). In vitro data suggests without DPM3, DPM1 is rapidly degraded (PMID: 16280320). Watchlist tag added as further information about association between DPM3 and the other genes could result in promotion to green.
Created: 23 Feb 2017, 5:13 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Congenital disorder of glycosylation, type Io 612937
Gene: dpm3 has been classified as Green List (High Evidence).
Publications for gene: DPM3 were set to 19576565; 28803818
Publications for gene: DPM3 were set to 19576565
Phenotypes for gene: DPM3 were changed from Congenital disorder of glycosylation, type Io 612937; Congenital disorder of glycosylation, type Io 612937; DMP3-CDG (other congenital disorders of glycosylation) to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937
Source NHS GMS was added to DPM3. Source London North GLH was added to DPM3.
Sarah Leigh: Associated with relevant pheno
Added phenotypes Congenital disorder of glycosylation, type Io 612937 for gene: DPM3 Publications for gene DPM3 were changed from 27604308 to 19576565
gene: DPM3 was added gene: DPM3 was added to Inborn errors of metabolism. Sources: Expert Review Amber Mode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPM3 were set to 27604308 Phenotypes for gene: DPM3 were set to Congenital disorder of glycosylation, type Io 612937; DMP3-CDG (other congenital disorders of glycosylation)