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| Muscular dystrophy and myopathy_Paediatric v0.28 | TRAPPC11 | Zornitza Stark Marked gene: TRAPPC11 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.28 | TRAPPC11 | Zornitza Stark Gene: trappc11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.28 | TRAPPC11 | Zornitza Stark Classified gene: TRAPPC11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.28 | TRAPPC11 | Zornitza Stark Gene: trappc11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Muscular dystrophy and myopathy_Paediatric v0.21 | TRAPPC11 |
Crystle Lee gene: TRAPPC11 was added gene: TRAPPC11 was added to Muscular dystrophy. Sources: Expert list Mode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRAPPC11 were set to 23830518; 26322222; 29855340; 30105108 Phenotypes for gene: TRAPPC11 were set to Muscular dystrophy, limb-girdle, autosomal recessive 18 (MIM#615356) Review for gene: TRAPPC11 was set to GREEN Added comment: >3 patients reported with variable muscle phenotype (primarily LGMD), which is a significant feature of this multisystemic childhood onset condition. Elevated CK consistent feature. PMID: 23830518: 2 different variants reported. Patients from one family presented with early onset proximal muscle weakness and raised CK levels. The second family presented with muscle weakness and elevated CK suggestive of myopathy. PMID: 26322222: Reported childhood onset muscular dystrophy in one patient PMID: 29855340: 1 patient with biallelic variants in TRAPPC11 PMID: 30105108: 2 siblings with promixal muscle weakness reported. Childhood onset. Sources: Expert list |
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