Congenital muscular dystrophy and congenital myopathy
Gene: COL13A1
The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 2 May 2024, 3:45 p.m. | Last Modified: 2 May 2024, 3:45 p.m.
Panel Version: 0.229
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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_promote_green was removed from gene: COL13A1. Tag Q1_23_NHS_review was removed from gene: COL13A1.
Source NHS GMS was added to COL13A1. Source Expert Review Green was added to COL13A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
gene: COL13A1 was added gene: COL13A1 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Literature,Expert Review Amber treatable, Q1_23_promote_green, Q1_23_NHS_review tags were added to gene: COL13A1. Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL13A1 were set to 30767057; 31018245; 31449669 Phenotypes for gene: COL13A1 were set to Myasthenic syndrome, congenital, 19, OMIM:616720 Penetrance for gene: COL13A1 were set to unknown Mode of pathogenicity for gene: COL13A1 was set to Other