Congenital myaesthenic syndrome

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

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 30 Apr 2019, 9:30 a.m.

Michael Oldridge (NHS)

Green List (high evidence)

see PanelApp
Created: 29 Apr 2019, 4:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation, type Ij, 608093; Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750; Limb girdle congenital myasthenic; tubular aggregates; congenital disorder of glycosylation type Ij (CDG-IJ)

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: >3 unrelated cases. Confirmed DD-G2P gene for relevant disorder. 1 Green review.
Created: 31 Jan 2017, 3:02 p.m.
Comment on list classification: Updated rating from Amber to Green: 1 Green review plus confirmed DD-G2P gene plus >3 unrelated cases of DPAGT1 mutations causing congenital myaesthenia (see OMIM and Literature).
Created: 31 Jan 2017, 3:02 p.m.
In 5 patients from 4 families with congenital myasthenic syndrome-13 (OMIM:614750) with tubular aggregates, Belaya et al. (2012, PMID:22742743) identified 7 different compound heterozygous mutations in the DPAGT1 gene.
Created: 31 Jan 2017, 3:01 p.m.
Basiri et al., 2013 (PMID:23591138) present a large Iranian family with a limb-girdle congenital myasthenic syndrome due to a mutation in DPAGT1 (c.652C>T, p.Arg218Trp).
Created: 31 Jan 2017, 3 p.m.
Confirmed DD-G2P gene for 'Myasthenic syndrome, congenital, with tubular aggregates' (OMIM:614750).
Created: 31 Jan 2017, 2:55 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM and G2P.
Created: 31 Jan 2017, 2:54 p.m.

David Beeson (Oxford University)

Green List (high evidence)

Covered by the Oxford Congenital Myasthenia Service
Created: 25 Jan 2017, 5:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Limb girdle congenital myasthenic; tubular aggregates; congenital disorder of glycosylation type Ij (CDG-IJ)

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital disorder of glycosylation, type Ij, 608093
  • Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750
  • Limb girdle congenital myasthenic
  • tubular aggregates
  • congenital disorder of glycosylation type Ij (CDG-IJ)
OMIM
191350
Clinvar variants
Variants in DPAGT1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to DPAGT1.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to DPAGT1. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.

31 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

31 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

31 Jan 2017, Gel status: 2

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

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

31 Jan 2017, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for DPAGT1 were set to 22742743; 23278575; 23447650; 23591138; 25500013

31 Jan 2017, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for DPAGT1 were set to Congenital disorder of glycosylation, type Ij, 608093; Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750; Limb girdle congenital myasthenic; tubular aggregates; congenital disorder of glycosylation type Ij (CDG-IJ)

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

DPAGT1 was added to Congenital myaestheniapanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

DPAGT1 was added to Congenital myaestheniapanel. Sources: Radboud University Medical Center, Nijmegen