Activity

Filter

Cancel
Date Panel Item Activity
5 actions
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