Congenital myaesthenic syndrome
Gene: DPAGT1Comment on phenotypes: Previous 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)Created: 22 Mar 2021, 1:45 p.m. | Last Modified: 22 Mar 2021, 1:45 p.m.
Panel Version: 2.23
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.
see PanelAppCreated: 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)
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.
Covered by the Oxford Congenital Myasthenia ServiceCreated: 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
Phenotypes for gene: DPAGT1 were changed from 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) to Myasthenic syndrome, congenital, 13, with tubular aggregates, OMIM:614750
Source NHS GMS was added to DPAGT1.
Source Wessex and West Midlands GLH was added to DPAGT1. Rating Changed from Green List (high evidence) to Green List (high evidence)
22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for DPAGT1 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for DPAGT1 were set to 22742743; 23278575; 23447650; 23591138; 25500013
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)
DPAGT1 was added to Congenital myaestheniapanel. Sources: UKGTN
DPAGT1 was added to Congenital myaestheniapanel. Sources: Radboud University Medical Center, Nijmegen