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Rhabdomyolysis and metabolic muscle disorders v1.71 POLG Arina Puzriakova Phenotypes for gene: POLG were changed from Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459; Progressive external ophthalmoplegia, autosomal dominant 1 157640; Progressive external ophthalmoplegia, autosomal recessive 1 258450 to Progressive external ophthalmoplegia, autosomal dominant 1, OMIM:157640; Progressive external ophthalmoplegia, autosomal recessive 1, OMIM:258450
Rhabdomyolysis and metabolic muscle disorders v1.28 POLG2 Sarah Leigh Publications for gene: POLG2 were set to 25929793
Rhabdomyolysis and metabolic muscle disorders v1.27 POLG2 Sarah Leigh Added comment: Comment on mode of inheritance: Reporting and characterization of a homozygous POLG2 variant in mitochondrial DNA depletion syndrome (PMID 27592148; 30157269)
Rhabdomyolysis and metabolic muscle disorders v1.27 POLG2 Sarah Leigh Mode of inheritance for gene: POLG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rhabdomyolysis and metabolic muscle disorders POLG1 Louise Daugherty commented on POLG1
Rhabdomyolysis and metabolic muscle disorders POLG1 Sarah Leigh classified POLG1* as grey
Rhabdomyolysis and metabolic muscle disorders POLG1 Sarah Leigh commented on POLG1*
Rhabdomyolysis and metabolic muscle disorders POLG1 Ros Quinlivan reviewed POLG1*
Rhabdomyolysis and metabolic muscle disorders POLG2 Sarah Leigh marked POLG2 as ready
Rhabdomyolysis and metabolic muscle disorders POLG2 Sarah Leigh added POLG2 to panel
Rhabdomyolysis and metabolic muscle disorders POLG2 Sarah Leigh reviewed POLG2
Rhabdomyolysis and metabolic muscle disorders POLG Sarah Leigh added POLG to panel
Rhabdomyolysis and metabolic muscle disorders POLG Sarah Leigh reviewed POLG