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| Congenital myopathy v4.15 | COL13A1 | Achchuthan Shanmugasundram Tag Q1_23_NHS_review tag was added to gene: COL13A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.8 | COL13A1 | Achchuthan Shanmugasundram Classified gene: COL13A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.8 | COL13A1 | Achchuthan Shanmugasundram Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.8 | COL13A1 | Achchuthan Shanmugasundram Gene: col13a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.7 | COL13A1 | Achchuthan Shanmugasundram commented on 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). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.7 | COL13A1 | Achchuthan Shanmugasundram Tag Q1_23_promote_green tag was added to gene: COL13A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.7 | COL13A1 | Achchuthan Shanmugasundram Tag treatable tag was added to gene: COL13A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.7 | COL13A1 | Achchuthan Shanmugasundram Phenotypes for gene: COL13A1 were changed from to Myasthenic syndrome, congenital, 19, OMIM:616720 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.6 | COL13A1 | Achchuthan Shanmugasundram Publications for gene: COL13A1 were set to PMID: 30767057; 31081514 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.5 | COL13A1 | Achchuthan Shanmugasundram reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30767057, 31018245, 31449669; Phenotypes: Myasthenic syndrome, congenital, 19, OMIM:616720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.2 | COL13A1 |
Anna Sarkozy 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 Added comment: 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 |
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