Congenital myaesthenic syndrome
Gene: COL13A1The '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
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 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.
Covered by the OXford Congenital Myasthenia ServiceCreated: 26 Jan 2017, 12:12 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myasthenic syndrome type 19
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag treatable tag was added to gene: COL13A1.
Phenotypes for gene: COL13A1 were changed from Congenital myasthenic syndrome type 19; Myasthenic syndrome, congenital, 19, 616720 to Myasthenic syndrome, congenital, 19, OMIM:616720
Publications for gene: COL13A1 were set to PMID: 26626625
Source NHS GMS was added to COL13A1.
Source Wessex and West Midlands GLH was added to COL13A1. 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 Amber List (Moderate Evidence).
Mode of inheritance for COL13A1 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for COL13A1 were set to Congenital myasthenic syndrome type 19; Myasthenic syndrome, congenital, 19, 616720
COL13A1 was added to Congenital myaestheniapanel. Sources: Literature,Eligibility statement prior genetic testing
COL13A1 was created by [email protected]