| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital myopathy v4.29 | TRDN | Achchuthan Shanmugasundram Tag Q2_23_NHS_review tag was added to gene: TRDN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.29 | TRDN | Achchuthan Shanmugasundram Tag Q2_23_promote_green tag was added to gene: TRDN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.29 | TRDN | Achchuthan Shanmugasundram Classified gene: TRDN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.29 | TRDN | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Anna Sarkozy (Great Ormond Street Hospital), there is sufficient evidence (9 unrelated cases) for promoting this gene to Green at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.29 | TRDN | Achchuthan Shanmugasundram Gene: trdn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.28 | TRDN | Achchuthan Shanmugasundram Publications for gene: TRDN were set to 25922419; 28202702 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v4.27 | TRDN | Achchuthan Shanmugasundram reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 25922419, 28202702, 30649896; Phenotypes: Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, OMIM:615441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v3.124 | TRDN | Anna Sarkozy reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID:25922419, 28202702, 30649896; Phenotypes: skeletal myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v3.113 | TRDN | Arina Puzriakova Phenotypes for gene: TRDN were changed from Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 to Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, OMIM:615441 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.214 | TRDN | Louise Daugherty Source NHS GMS was added to TRDN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.210 | TRDN | Louise Daugherty Classified gene: TRDN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.210 | TRDN | Louise Daugherty Added comment: Comment on list classification: Amber gene recommended by Anna Sarkozy as a result of GLH Test Group prior to sign off. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.210 | TRDN | Louise Daugherty Gene: trdn has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital myopathy v1.209 | TRDN |
Louise Daugherty gene: TRDN was added gene: TRDN was added to Congenital myopathy. Sources: Expert list Mode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRDN were set to 25922419; 28202702 Phenotypes for gene: TRDN were set to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 Review for gene: TRDN was set to AMBER Added comment: gene recommended to be added to panel by Anna Sarkozy as a result of GLH Test Group prior to sign off. Recessive frameshift mutations, leading to loss of TRDN, were found to cause a skeletal myopathy in a subset of patients with triadin knockout syndrome. Altmann HM, Tester DJ, Will ML, et al. : Homozygous/Compound Heterozygous Triadin Mutations Associated With Autosomal-Recessive Long-QT Syndrome and Pediatric Sudden Cardiac Arrest: Elucidation of the Triadin Knockout Syndrome. Circulation. 2015;131(23):2051–60. 10.1161/CIRCULATIONAHA.115.015397 Engel AG, Redhage KR, Tester DJ, et al. : Congenital myopathy associated with the triadin knockout syndrome. Neurology. 2017;88(12):1153–6. Sources: Expert list |
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