Congenital myaesthenic syndrome

Gene: DPAGT1

Comment 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

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.

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)

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.

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

• PMID: 22742743
• PMID: 23278575
• PMID: 23447650
• PMID: 23591138
• PMID: 25500013

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