1. Panels
  2. Molecular autopsy
  3. DPM3
Genes in panel
Prev Next
STRs in panel
Prev Next

Molecular autopsy

Gene: DPM3

Amber List (moderate evidence)
DPM3 (dolichyl-phosphate mannosyltransferase subunit 3)
EnsemblGeneIds (GRCh38): ENSG00000179085
EnsemblGeneIds (GRCh37): ENSG00000179085
OMIM: 605951, Gene2Phenotype
DPM3 is in 11 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Congenital disorder of glycosylation, type Io 612937
  • Congenital disorder of glycosylation, type Io 612937
  • DMP3-CDG (other congenital disorders of glycosylation)
  • congenital muscular dystrophies
  • Congenital disorder of glycosylation, type Io
OMIM
605951
Clinvar variants
Variants in DPM3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Congenital disorder of glycosylation, type Io 612937; Congenital disorder of glycosylation, type Io 612937; DMP3-CDG (other congenital disorders of glycosylation); congenital muscular dystrophies; Congenital disorder of glycosylation, type Io for gene: DPM3

20 Dec 2018, Gel status: 2

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

Ellen McDonagh (Genomics England Curator)

gene: DPM3 was added gene: DPM3 was added to Molecular autopsy. Sources: Expert Review Amber Mode of inheritance for gene: DPM3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPM3 were set to 19576565 Phenotypes for gene: DPM3 were set to Congenital disorder of glycosylation, type Io 612937; Congenital disorder of glycosylation, type Io 612937; DMP3-CDG (other congenital disorders of glycosylation)