Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.130 | GFPT1 | Bryony Thompson Marked gene: GFPT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.130 | GFPT1 | Bryony Thompson Gene: gfpt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.130 | GFPT1 | Bryony Thompson Classified gene: GFPT1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.130 | GFPT1 | Bryony Thompson Gene: gfpt1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.87 | GFPT1 |
Bryony Thompson gene: GFPT1 was added gene: GFPT1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Expert list Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFPT1 were set to 28712002; 29905857; 31449669 Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates MIM#610542; Limb-girdle congenital myasthenic syndrome |