Undiagnosed metabolic disorders
Gene: DPM3EnsemblGeneIds (GRCh38): ENSG00000179085
EnsemblGeneIds (GRCh37): ENSG00000179085
OMIM: 605951, Gene2Phenotype
DPM3 is in 11 panels
3 reviews
Louise Daugherty (Genomics England Curator)
As a result of watchlist tag audit the watchlist tag was removed from DPM3- this is now a green gene with sufficient evidence/reviewCreated: 13 Jan 2020, 4:57 p.m. | Last Modified: 13 Jan 2020, 4:57 p.m.
Panel Version: 1.413
Sarah Leigh (Genomics England Curator)
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
Ellen McDonagh (Genomics England Curator)
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
Phenotypes
Congenital disorder of glycosylation, type Io 612937
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937
- OMIM
- 605951
- Clinvar variants
- Variants in DPM3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Skeletal dysplasia
- Fetal anomalies
- Undiagnosed metabolic disorders
- Congenital muscular dystrophy
- Intellectual disability
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- DDG2P
History Filter Activity
Removed Tag
Louise Daugherty (Genomics England Curator)Tag watchlist was removed from gene: DPM3.
Set Phenotypes
Sarah Leigh (Genomics England Curator)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
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: DPM3 were set to 27604308
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: dpm3 has been classified as Green List (High Evidence).
panel promoted to version 1
Sarah Leigh (Genomics England Curator)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
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)DPM3 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Amber Model of inheritance for gene DPM3 was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)DPM3 was added to Undiagnosed metabolic disorderspanel. Sources: Literature
Created
Sarah Leigh (Genomics England Curator)DPM3 was created by sleigh