| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.45 | SPTAN1 | Bryony Thompson Marked gene: SPTAN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.45 | SPTAN1 | Bryony Thompson Gene: sptan1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.45 | SPTAN1 | Bryony Thompson Phenotypes for gene: SPTAN1 were changed from distal myopathy to distal myopathy MONDO:0018949 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.44 | SPTAN1 | Bryony Thompson Classified gene: SPTAN1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.44 | SPTAN1 | Bryony Thompson Gene: sptan1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v1.43 | SPTAN1 |
Bryony Thompson gene: SPTAN1 was added gene: SPTAN1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPTAN1 were set to 40023774 Phenotypes for gene: SPTAN1 were set to distal myopathy Review for gene: SPTAN1 was set to GREEN gene: SPTAN1 was marked as current diagnostic Added comment: 20 cases from 14 families with early childhood onset distal myopathy with heterozygous loss of function variants. Sources: Literature |
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