Congenital myaesthenic syndrome

Gene: COL13A1

The 'treatable' tag has been added as salbutamol alone or in combination with 3,4-DAP was reported effective in all tested patients (PMID:31449669).

Created: 28 Mar 2023, 1:14 p.m. | Last Modified: 28 Mar 2023, 1:14 p.m.

Panel Version: 4.1

Publications

• 31449669

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 myasthenic syndrome type 19; Myasthenic syndrome, congenital, 19, 616720

Comment on list classification: Updated rating from Amber to Green: 1 green review from expert, plus 2 unrelated cases with additional support from mouse model.

Created: 7 Feb 2017, 4:25 p.m.

Comment on list classification: Updated rating from Grey to Amber. 1 green review (from gene submitter). 2 unrelated cases reported so far, mouse model demonstrates role of COL13A1 in NMJ development, and probable DD-G2P gene.

Created: 2 Feb 2017, 12:02 p.m.

Probable DD-G2P gene for Congenital Myasthenic Syndrome Type 19.

Created: 2 Feb 2017, noon

Mouse model: PMID:20844119 (Latvanlehto et al., 2010) describe post- and presynaptic defects in Col13a1(-/-) mice and suggest that collagen XIII plays an autocrine role in postsynaptic maturation of the NMJ.

Created: 2 Feb 2017, 11:59 a.m.

In 3 patients from 2 unrelated families with congenital myasthenic syndrome-19 (OMIM:616720), Logan et al. (2015, (PMID:26626625) identified 2 different homozygous truncating mutations in COL13A1.

Created: 2 Feb 2017, 11:53 a.m.

Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.

Created: 2 Feb 2017, 11:43 a.m.

Green List (high evidence)

Covered by the OXford Congenital Myasthenia Service

Created: 26 Jan 2017, 12:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital myasthenic syndrome type 19

Publications

• PMID: 26626625

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