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Inborn errors of metabolism

Gene: DPM2

Green List (high evidence)

DPM2 (dolichyl-phosphate mannosyltransferase subunit 2, regulatory)
EnsemblGeneIds (GRCh38): ENSG00000136908
EnsemblGeneIds (GRCh37): ENSG00000136908
OMIM: 603564, Gene2Phenotype
DPM2 is in 10 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: The members of the GMS Neurology Specialist Test Group on the Webex call Thursday 8th August 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that this gene can remain as Amber on Genetic epilepsy syndromes panel as DPM2 is Green on the 'Inborn errors of metabolism' panel (467), so will be Green on the Epilepsy Super panel (489).
Created: 19 Sep 2019, 3:35 p.m. | Last Modified: 19 Sep 2019, 3:35 p.m.
Panel Version: 1.268

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene is green on the Congenital muscular dystrophy gene panel (version 1.4) and therefore added to this panel and promoted to green due to comments from that panel: "23109149 describes 3 children from 2 families with muscular dystrophy-dystroglycanopathy, plus good functional evidence this class of CDG can be associated with CMD - Arianna Tucci (Genomics England Curator), Jan. 25, 2017, 4:41 p.m."
Created: 15 Feb 2017, 8:40 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Iu 615042

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Iu 615042
  • Congenital disorder of glycosylation, type Iu 615042
OMIM
603564
Clinvar variants
Variants in DPM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: dpm2 has been classified as Green List (High Evidence).

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Congenital disorder of glycosylation, type Iu 615042 for gene: DPM2 Publications for gene DPM2 were changed from 23109149; 19901254 to 23109149

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: DPM2 was added gene: DPM2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: DPM2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPM2 were set to 23109149; 19901254 Phenotypes for gene: DPM2 were set to Congenital disorder of glycosylation, type Iu 615042