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Genetic epilepsy syndromes

Gene: MPDU1

Green List (high evidence)

MPDU1 (mannose-P-dolichol utilization defect 1)
EnsemblGeneIds (GRCh38): ENSG00000129255
EnsemblGeneIds (GRCh37): ENSG00000129255
OMIM: 604041, Gene2Phenotype
MPDU1 is in 9 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR congenital disorder of glycosylation type If. Schenk et al, 2011 - 3 unrelated patients - 2/3 had seizures (patient S and A) Both Sand A were of consang families and hom variants were detected, other patient was a compound het. Kranz et al, 2001 - patient had seizures and other features - hom point mutation.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type If, 609180

Publications

Rebecca Foulger (Genomics England curator)

I don't know

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: John Taylor and Helen Lord. 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: Updated rating from Amber to Green: Green review by Zornitza plus sufficient (>3) cases of seizures in CDG patients with MPDU1 variants from PMIDs:11733556, 11733564 and 28122681.
Created: 3 Dec 2018, 1:38 p.m.
PMID:28122681 (Al Teneiji et al. 2017) report 15 patients, 1 of which had MPDU1-CDG. The patient had a homozygous c.218G>A (p.G73E) variant in MPDU1, and seizures were reported amongst the phenotypes (Table 2).
Created: 3 Dec 2018, 1:35 p.m.
Schenk et al 2001 (PMID:11733564) report 3 unrelated patients with congenital disorder of glycosylation CDG-If, and variants in MPDU1. Patient S had severed intractable seizures from birth, which worsened up to his death age 10 months. Patient A had generalized seizures from age 15 months that responded well to valproate (listed as generalized febrile seizures in Table 1). Patient L had hypertonic attacks in infancy.
Created: 3 Dec 2018, 1:22 p.m.
Kranz et al, 2001 (PMID:11733556) report a patient with a congenital disorder of glycosylation, with a homozygous variant in MPDU1 (221T>C, p.L74S). Seizures began age 5 months and frequently occured from then on.
Created: 3 Dec 2018, 1:16 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are part of the phenotype of this CDG.
Created: 16 Aug 2018, 12:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type If, MIM#609180

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital disorder of glycosylation, type If, 609180
  • seizures
OMIM
604041
Clinvar variants
Variants in MPDU1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to MPDU1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to MPDU1.

17 Mar 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: MPDU1 were changed from Congenital disorder of glycosylation, type If, 609180 to Congenital disorder of glycosylation, type If, 609180; seizures

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are part of the pheno

3 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: mpdu1 has been classified as Green List (High Evidence).

3 Dec 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: mpdu1 has been classified as Green List (High Evidence).

3 Dec 2018, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: MPDU1 were set to

3 Dec 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: MPDU1 was changed from to BIALLELIC, autosomal or pseudoautosomal

3 Dec 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: MPDU1 were changed from to Congenital disorder of glycosylation, type If, 609180

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to MPDU1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

MPDU1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

MPDU1 was created by Sarah Leigh