Congenital myopathy

Gene: COL13A1

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.

Created: 26 Sep 2024, 10:39 a.m. | Last Modified: 26 Sep 2024, 10:39 a.m.

Panel Version: 4.42

Comment on list classification: There is sufficient evidence (>3 unrelated cases) for the association of this gene with myopathy and hence it can be promoted to GREEN rating in the next major review.

Created: 28 Mar 2023, 1:08 p.m. | Last Modified: 28 Mar 2023, 1:08 p.m.

Panel Version: 4.8

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, 1:06 p.m. | Last Modified: 28 Mar 2023, 1:06 p.m.

Panel Version: 4.7

As reviewed by Anna Sarkozy, the clinical phenotypes of the condition caused by biallelic variants in COL13A1 (MIM #616720) overlaps with both myopathies and congenital myaesthenic syndromes. All reported cases presented in the neonatal period or in infancy with ptosis, feeding or respiratory difficulties and subsequently weakness was most pronounced in axial and respiratory muscles.

Created: 28 Mar 2023, 1:02 p.m. | Last Modified: 28 Mar 2023, 1:02 p.m.

Panel Version: 4.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 19, OMIM:616720

Publications

• 30767057
• 31018245
• 31449669

Affected individuals may present mild non specific myopathic findings on muscle biopsy in addition to clinical features of congenital myasthenic syndrome thus strongly in differential with congenital myopathies.
Sources: Literature

Created: 24 Mar 2023, 11:04 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• PMID: 30767057
• 31081514

Mode of pathogenicity
Other