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Congenital myopathy v3.93 SLC25A4 Arina Puzriakova Publications for gene: SLC25A4 were set to PMID:25732997; 27693233
Congenital myopathy v3.92 SLC25A4 Arina Puzriakova Phenotypes for gene: SLC25A4 were changed from itochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 60928 to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM:617184
Congenital myopathy v2.39 SLC25A42 Ivone Leong Tag watchlist tag was added to gene: SLC25A42.
Congenital myopathy v2.39 SLC25A42 Ivone Leong Classified gene: SLC25A42 as Amber List (moderate evidence)
Congenital myopathy v2.39 SLC25A42 Ivone Leong Gene: slc25a42 has been classified as Amber List (Moderate Evidence).
Congenital myopathy v2.38 SLC25A42 Ivone Leong Phenotypes for gene: SLC25A42 were changed from muscle weakness, lactic acidosis, and muscle changes suggestive of mitochondrial dysfunction to Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416
Congenital myopathy v2.37 SLC25A42 Ivone Leong Publications for gene: SLC25A42 were set to 26541337
Congenital myopathy v2.5 SLC25A42 Zornitza Stark reviewed gene: SLC25A42: Rating: AMBER; Mode of pathogenicity: None; Publications: 26541337, 29923093, 29327420; Phenotypes: Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression (MIM#618416); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Congenital myopathy v1.71 SLC25A4 Louise Daugherty Phenotypes for gene: SLC25A4 were changed from Mitochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283 to itochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 60928
Congenital myopathy v1.70 SLC25A4 Louise Daugherty Phenotypes for gene: SLC25A4 were changed from mitochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283 to Mitochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283
Congenital myopathy v1.69 SLC25A4 Louise Daugherty Phenotypes for gene: SLC25A4 were changed from mitochondrial myopathy to mitochondrial myopathy; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD 617184; Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR 615418; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 609283
Congenital myopathy SLC25A4 Helen Brittain marked SLC25A4 as ready
Congenital myopathy SLC25A42 Anna Sarkozy reviewed SLC25A42
Congenital myopathy SLC25A4 Anna Sarkozy reviewed SLC25A4
Congenital myopathy SLC25A4 Helen Brittain marked SLC25A4 as ready
Congenital myopathy SLC25A4 Helen Brittain classified SLC25A4 as green
Congenital myopathy SLC25A42 Helen Brittain marked SLC25A42 as ready
Congenital myopathy SLC25A42 Helen Brittain classified SLC25A42 as red
Congenital myopathy SLC25A42 Helen Brittain reviewed SLC25A42
Congenital myopathy SLC25A4 Helen Brittain reviewed SLC25A4
Congenital myopathy SLC25A4 Ellen McDonagh added SLC25A4 to panel
Congenital myopathy SLC25A4 Ellen McDonagh reviewed SLC25A4
Congenital myopathy SLC25A42 Ellen McDonagh added SLC25A42 to panel
Congenital myopathy SLC25A42 Ellen McDonagh reviewed SLC25A42