Undiagnosed metabolic disordersGene: DPM3
As a result of watchlist tag audit the watchlist tag was removed from DPM3- this is now a green gene with sufficient evidence/review
Created: 13 Jan 2020, 4:57 p.m. | Last Modified: 13 Jan 2020, 4:57 p.m.
Panel Version: 1.413
Comment on list classification: 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: 1.132
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
Tag watchlist was removed from gene: DPM3.
Phenotypes for gene: DPM3 were changed from DMP3-CDG (other congenital disorders of glycosylation); Congenital disorder of glycosylation, type Io 612937 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937
Publications for gene: DPM3 were set to 27604308
Gene: dpm3 has been classified as Green List (High Evidence).
Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added
DPM3 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Amber Model of inheritance for gene DPM3 was set to BIALLELIC, autosomal or pseudoautosomal
DPM3 was added to Undiagnosed metabolic disorderspanel. Sources: Literature
DPM3 was created by sleigh