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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.11 MYOT Achchuthan Shanmugasundram Phenotypes for gene: MYOT were changed from Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.11 MYOT Achchuthan Shanmugasundram Phenotypes for gene: MYOT were changed from Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.11 MYOT Achchuthan Shanmugasundram Phenotypes for gene: MYOT were changed from Myopathy, myofibrillar, 3, OMIM:609200 to Myopathy, myofibrillar, 3, OMIM:609200; Myopathy, spheroid body, OMIM:182920
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.10 MYOT Achchuthan Shanmugasundram edited their review of gene: MYOT: Changed phenotypes to: Myopathy, myofibrillar, 3, OMIM:609200, Myopathy, spheroid body, OMIM:182920
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.10 MYOT Achchuthan Shanmugasundram Phenotypes for gene: MYOT were changed from Limb-Girdle Muscular Dystrophy, Dominant; Muscular dystrophy, limb-girdle, type 1A, 159000; Limb-girdle muscular dystrophy to Myopathy, myofibrillar, 3, OMIM:609200
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v3.9 MYOT Achchuthan Shanmugasundram reviewed gene: MYOT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, myofibrillar, 3, OMIM:609200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.42 MTM1 Arina Puzriakova Phenotypes for gene: MTM1 were changed from Myotubular myopathy, X-linked, 310400 to Myopathy, centronuclear, X-linked, OMIM:310400
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v2.6 MYOT Zornitza Stark reviewed gene: MYOT: Rating: AMBER; Mode of pathogenicity: None; Publications: 30055862, 21336781, 15947064; Phenotypes: Myopathy, myofibrillar, 3 (MIM#609200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.97 CLCN1 Chiara Marini Bettolo edited their review of gene: CLCN1: Added comment: muscle channelopathy. Myotonia congenita; Changed rating: RED
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.81 MATR3 Louise Daugherty Phenotypes for gene: MATR3 were changed from Amyotrophic lateral sclerosis 21, 606070 to Amyotrophic lateral sclerosis 21, 606070; ALS; myofibrillar myopathy
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.46 CLCN1 Chiara Marini Bettolo reviewed gene: CLCN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7981750, 8112288; Phenotypes: Myotonia congenita; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 MTM1 Louise Daugherty Mode of inheritance for gene MTM1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Myotubular myopathy, X-linked, 310400 for gene: MTM1
Publications for gene MTM1 were changed from 8640223; 9285787; 9305655; 10790201; 10502779 to 9305655; 9285787
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 MATR3 Louise Daugherty Mode of inheritance for gene MATR3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Amyotrophic lateral sclerosis 21, 606070 for gene: MATR3
Publications for gene MATR3 were changed from to 19344878
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.18 CLCN1 Louise Daugherty Mode of inheritance for gene CLCN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Myotonia congenita, dominant, 160800 for gene: CLCN1
Publications for gene CLCN1 were changed from to 8112288; 7981750
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 MTM1 Ana Topf edited their review of gene: MTM1: Changed publications: 9305655, 9285787; Changed phenotypes: Myotubular myopathy, X-linked, 310400; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 MATR3 Ana Topf reviewed gene: MATR3: Rating: GREEN; Mode of pathogenicity: ; Publications: 19344878; Phenotypes: Amyotrophic lateral sclerosis 21, 606070; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.17 CLCN1 Ana Topf reviewed gene: CLCN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 7981750, 8112288; Phenotypes: Myotonia congenita, dominant, 160800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies v1.14 MTM1 Louise Daugherty Phenotypes for gene: MTM1 were changed from 310400 to Myotubular myopathy, X-linked, 310400