Congenital disorders of glycosylation
Gene: DPM3Comment 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: 1.31
Comment when marking as ready: Associated with phenotype in OMIM and as a probable Developmental Disorder Gene / G2P. Only one variants reported in one case.Created: 15 Dec 2016, 4:44 p.m.
dystroglycanopathy like symptoms, biochemistry consistent with a glycosylation disorder, but a single described patient onlyCreated: 12 Dec 2016, 2:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Gene: dpm3 has been classified as Green List (High Evidence).
Phenotypes for gene: DPM3 were changed from Congenital disorder of glycosylation, type Io 612937 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15 612937
Publications for gene: DPM3 were set to 19576565
Promoted to V1 19th December 2016
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
Publications for DPM3 were set to 19576565
DPM3 was added to Congenital disorders of glycosylationpanel. Source: UKGTN
DPM3 was added to Congenital disorders of glycosylationpanel. Source: Radboud University Medical Center, Nijmegen
DPM3 was added to Congenital disorders of glycosylationpanel. Source: Illumina TruGenome Clinical Sequencing Services
DPM3 was added to Congenital disorders of glycosylationpanel. Sources: Emory Genetics Laboratory
DPM3 was created by sleigh