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Genetic epilepsy syndromes

Gene: DPAGT1

Green List (high evidence)

DPAGT1 (dolichyl-phosphate N-acetylglucosaminephosphotransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000172269
EnsemblGeneIds (GRCh37): ENSG00000172269
OMIM: 191350, Gene2Phenotype
DPAGT1 is in 12 panels

3 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR congenital myasthenic syndrome with tubular aggregates and AR congenital disorder of glycosylation type Ij. Wurde et al, 2012 - 2 sibs - consang Turkish parents - intractable seizures - death in first year of life - hom DPAGT1 missense variant - RT-PCR analysis showed the mutation increased the amount of normal aberrant splicing in controls , resulting in the skipping of exons 2 & 3 and lead to a truncated protein, in vitro studies done. Iqbal et al, 2013 - Pakistani brother and sister - both develped seizures in childhood - compound het missense variants. Ng et al, 2019 - 14 disease causing mutations in 28 patients from 10 families have prev been reported- in this paper they report another 11 patients from 8 families and add 10 new mutations - approx 50% have epilepsy.
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 Ij, 608093; Myasthenic syndrome congenital, 13 with tubular aggregates, 614750

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. Confirmed DD-G2P gene for Congenital disorder of glycosylation (CDG), which can present with seizures. Sufficient cases of seizures from the literature (3 cases from PMIDs:22304930, 23249953, 12872255) for inclusion on panel.
Created: 24 Nov 2018, 9:33 p.m.
In a patient with central disorder of glycosylation type Ij, Wu et al. (2003, PMID:12872255) identified reduced DPAGT1 enzymatic activity. In the paternal allele, a variant Y170C was identified. Although no variant was identified in the maternal allele, it produced only 12% of the normal amount of mRNA. She had severe hypotonia and medically intractable seizures amongst her phenotypes.
Created: 24 Nov 2018, 9:22 p.m.
In a Pakistani brother and sister born of unrelated patients with a mild form of CDG Ij, Iqbal et al. (2013, PMID:23249953) identified compound heterozygous mutations in the DPAGT1 gene (I29F and L168P). The patients had normal psychomotor development until ages 2 and 5 years, respectively, when they both developed seizures, hypotonia, and aggressive behavior. Seizures and additional phenotypes continued into adulthood.
Created: 24 Nov 2018, 9:21 p.m.
In 2 sibs, born of consanguineous Turkish parents, with severe CDG Ij, Wurde et al. 2012 (PMID:22304930) identified a homozygous mutation in the DPAGT1 gene (p.A114G). The patients had a severe form which included intractable seizures, and died within the first year of life.
Created: 24 Nov 2018, 9:19 p.m.

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Seizures are a feature of this multi system metabolic disorder.
Created: 12 Aug 2018, 6:52 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ij, MIM#608093

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 Ij, 608093
OMIM
191350
Clinvar variants
Variants in DPAGT1
Penetrance
None
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 DPAGT1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to DPAGT1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Zornitza Stark: Seizures are a feature of this

24 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: dpagt1 has been classified as Green List (High Evidence).

24 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: dpagt1 has been classified as Green List (High Evidence).

22 Nov 2018, Gel status: 2

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: DPAGT1 was changed from to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2018, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: DPAGT1 were changed from to Congenital disorder of glycosylation, type Ij, 608093

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to DPAGT1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

DPAGT1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

DPAGT1 was created by Sarah Leigh