Congenital disorders of glycosylation
Gene: DPM1Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 7 variants reported.Created: 15 Dec 2016, 4:31 p.m.
N-glycosylation CDG-Type I with dystroglycanopathy like symptoms as wellCreated: 12 Dec 2016, 2:14 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Phenotypes for gene: DPM1 were changed from Congenital disorder of glycosylation, type Ie 608799; GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways) to Congenital disorder of glycosylation, type Ie, OMIM:608799; GDP-Man:Dol-P mannosyltransferase deficiency (Disorders of multiple glycosylation and other glycosylation pathways)
Promoted to V1 19th December 2016
Publications for DPM1 were set to 23856421
Publications for DPM1 were set to 23856421; 23109149
Publications for DPM1 were set to 23856421
This gene has been classified as Green List (High Evidence).
DPM1 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
DPM1 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
DPM1 was added to Congenital disorders of glycosylationpanel. Source: Literature Model of inheritance for gene DPM1 was set to BIALLELIC, autosomal or pseudoautosomal
DPM1 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
DPM1 was created by sleigh
DPM1 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory