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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.30 | CASQ1 | Zornitza Stark Marked gene: CASQ1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.30 | CASQ1 | Zornitza Stark Added comment: Comment when marking as ready: Founder variant, but large number of affected individuals reported. Italian, rather than rare, isolated ethnicity. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.30 | CASQ1 | Zornitza Stark Gene: casq1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.30 | CASQ1 | Zornitza Stark Classified gene: CASQ1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.30 | CASQ1 | Zornitza Stark Gene: casq1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.29 | CASQ1 | Zornitza Stark Tag founder tag was added to gene: CASQ1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.18 | CASQ1 |
Elena Savva gene: CASQ1 was added gene: CASQ1 was added to Limb Girdle Muscular Dystrophy. Sources: Expert list Mode of inheritance for gene: CASQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CASQ1 were set to PMID: 26136523; 30258016 Phenotypes for gene: CASQ1 were set to Myopathy, vacuolar, with CASQ1 aggregates 616231 Review for gene: CASQ1 was set to GREEN Added comment: PMID: 26136523 - 3 unrelated families (10 patients) with a founder missense (p.Asp244Gly) with muscle weaknesses. All patients reported adult onset. 1 proband reported lower limb hypertrophy with normal EMG results. 6 patients had muscle biopsy, with minimal fibre size variation, and a few central nuclei. PMID: 30258016 - 12 families (22 patients), or which 21 had the recurring p.Asp244Gly mutation. Patients all had adult onset, elevated CK, with slowly progressive proximal weakness with quadriceps atrophy and scapular winging. Pelvic girdle weakness was reported in 4/22 patients. Sources: Expert list |
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