Congenital myopathy
Gene: COL13A1
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
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: LiteratureCreated: 24 Mar 2023, 11:04 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
Mode of pathogenicity
Other
Tag Q1_23_NHS_review tag was added to gene: COL13A1.
Gene: col13a1 has been classified as Amber List (Moderate Evidence).
Tag Q1_23_promote_green tag was added to gene: COL13A1.
Tag treatable tag was added to gene: COL13A1.
Phenotypes for gene: COL13A1 were changed from to Myasthenic syndrome, congenital, 19, OMIM:616720
Publications for gene: COL13A1 were set to PMID: 30767057; 31081514
gene: COL13A1 was added gene: COL13A1 was added to Congenital myopathy. Sources: Literature Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL13A1 were set to PMID: 30767057; 31081514 Penetrance for gene: COL13A1 were set to unknown Mode of pathogenicity for gene: COL13A1 was set to Other