Early onset or syndromic epilepsy

Gene: DPM2

PMID:33129689: Radenkovic et al. 2021 report the third case of DPM2-CDG in a 23-year-old male with compound het variants in this gene. However, this individual did not display any seizures so maintaining Amber rating on this panel.

Created: 20 Apr 2021, 10:17 a.m. | Last Modified: 20 Apr 2021, 10:17 a.m.

Panel Version: 2.323

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation type Iu, 615042

Publications

• 23109149
• 19901254

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

Comment when marking as ready: Based on reviewers' comments.

Created: 11 Dec 2018, 1:18 p.m.

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

• 23109149

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