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| Muscular dystrophy and myopathy_Paediatric v1.44 | TTN |
Bryony Thompson gene: TTN was added gene: TTN was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature digenic tags were added to gene: TTN. Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTN were set to 38429495; 38982518 Phenotypes for gene: TTN were set to TTN-related myopathy MONDO:0100175 Review for gene: TTN was set to GREEN gene: TTN was marked as current diagnostic Added comment: >4 cases reported with biallelic variants and congenital myopathy (e.g. centronuclear myopathy, cytoplasmic bodies). Digenic heterozygous TTN/SRPK3 variants are also reported with core myopathy. Sources: Literature |
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| Muscular dystrophy and myopathy_Paediatric v1.33 | SRPK3 | Zornitza Stark Marked gene: SRPK3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.33 | SRPK3 | Zornitza Stark Gene: srpk3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.33 | SRPK3 | Zornitza Stark Classified gene: SRPK3 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.33 | SRPK3 | Zornitza Stark Gene: srpk3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.32 | SRPK3 | Zornitza Stark Tag digenic tag was added to gene: SRPK3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v1.32 | SRPK3 |
Zornitza Stark gene: SRPK3 was added gene: SRPK3 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature Mode of inheritance for gene: SRPK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SRPK3 were set to 38429495 Phenotypes for gene: SRPK3 were set to Myopathy, MONDO:0005336, digenic SRPK3- and TTN-related Review for gene: SRPK3 was set to GREEN Added comment: 33 individuals reported with SRPK3 variants but myopathy only occurred when TTN variant also present (most truncating). Zebrafish model supports digenic model of inheritance. Sources: Literature |
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