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Genetic epilepsy syndromes

Gene: DPM2

Amber List (moderate evidence)

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation type Iu, 615042

Publications

Rebecca Foulger (Genomics England curator)

I don't know

As discussed with members of the GMS Neurology Specialist Test Group on the Webex call 22nd November 2019 for Clinical Indication R59 Early onset or syndromic epilepsy: Agreed that there is insufficient evidence to rate this gene Green. Kept rating as Amber.
Created: 25 Nov 2019, 8:42 p.m. | Last Modified: 25 Nov 2019, 8:42 p.m.
Panel Version: 1.436
As discussed with 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: DPM2 is Green on the 'Inborn errors of metabolism' panel (467) so will be Green on the Epilepsy Super panel (489).
Created: 13 Aug 2019, 4:09 p.m. | Last Modified: 15 Aug 2019, 8:05 a.m.
Panel Version: 1.222
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: Alison Callaway and John Taylor. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment on list classification: Reassessing rating of DPM2 during curation of GMS panel: Evidence remains insufficient for a diagnostic-rating (3 patients from 2 families in the literature: PMIDs 23109149 and 26453362).
Created: 4 Jul 2019, 1:15 p.m. | Last Modified: 4 Jul 2019, 1:15 p.m.
Panel Version: 1.120
PMID:26453362: Fiumara et al. 2016 report a patient (patient 2) with Early-onset epileptic encephalopathy (seizure onset in first week). This girl has been previously reported in PMID:23109149 (patient 1 in Barone et al., 2012).
Created: 4 Jul 2019, 1:13 p.m. | Last Modified: 4 Jul 2019, 1:13 p.m.
Panel Version: 1.119
PMID:23109149: Barone et al., 2012 describe 3 patients from 2 families with a defect in DPM2. 2 Italian brothers of consagnuineous Sicilian parents were homozygous for an A>G transition (Y23C) in DPM2. An unrelated patient of Sicilian origin, was compound heterozygous for Y23C and a G>C transversion in intron 1 (IVS4-1G-C). Epilepsy was a feature in all 3 patients.
Created: 4 Jul 2019, 1:12 p.m. | Last Modified: 4 Jul 2019, 1:12 p.m.
Panel Version: 1.119

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Based on reviewers' comments.
Created: 11 Dec 2018, 1:18 p.m.

Zornitza Stark (Australian Genomics)

I don't know

Severe epilepsy is a feature of this CDG, but only 3 patients from 2 families reported.
Created: 12 Aug 2018, 6:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Iu, MIM#615042

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Wessex and West Midlands GLH
  • NHS GMS
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type Iu 615042
  • seizures
OMIM
603564
Clinvar variants
Variants in DPM2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

15 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: dpm2 has been classified as Amber List (Moderate Evidence).

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to DPM2.

6 Aug 2019, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to DPM2.

4 Jul 2019, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: DPM2 were changed from Congenital disorder of glycosylation, type Iu 615042 to Congenital disorder of glycosylation, type Iu 615042; seizures

4 Jul 2019, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: DPM2 were set to 23109149

4 Jul 2019, Gel status: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: dpm2 has been classified as Amber List (Moderate Evidence).

11 Dec 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Severe epilepsy is a feature o

11 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: dpm2 has been classified as Amber List (Moderate Evidence).

6 Dec 2018, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: DPM2 were changed from to Congenital disorder of glycosylation, type Iu 615042

6 Dec 2018, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: DPM2 were set to

6 Dec 2018, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: DPM2 was changed from to BIALLELIC, autosomal or pseudoautosomal

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to DPM2. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

DPM2 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

DPM2 was created by Sarah Leigh