Activity

Filter

Cancel
Date Panel Item Activity
7 actions
DDG2P v3.12 DMD Achchuthan Shanmugasundram reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: ; Publications: 15643612, 7581396, 10909857, 7881286, 7981590, 17024373, 8361506, 8279470, 1513469, 1757094, 8199594, 8281150, 8301652, 12673664, 8401539, 12754707, 12632325, 8499922, 1301174, 12794683, 8817332, 1549596, 12522557, 1383546, 8401582, 1601417, 8364587, 2071150, 8789442, 1632439, 9683584, 9410897, 8401537, 7951253, 9170407, 1307253; Phenotypes: DUCHENNE MUSCULAR DYSTROPHY, OMIM:310200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
DDG2P v3.11 DMD Achchuthan Shanmugasundram Publications for gene: DMD were updated from 8301652; 1383546; 15643612; 1549596; 1307253; 10909857; 8499922; 7981590; 2071150; 1513469; 8817332; 12794683; 7951253; 1601417; 8401539; 1301174; 8364587; 8281150; 7881286; 12673664; 7581396; 17024373; 8199594; 8401582 to 15643612; 7581396; 10909857; 7881286; 7981590; 17024373; 8361506; 8279470; 1513469; 1757094; 8199594; 8281150; 8301652; 12673664; 8401539; 12754707; 12632325; 8499922; 1301174; 12794683; 8817332; 1549596; 12522557; 1383546; 8401582; 1601417; 8364587; 2071150; 8789442; 1632439; 9683584; 9410897; 8401537; 7951253; 9170407; 1307253
DDG2P v2.8 DMD Sarah Leigh Tag Skewed X-inactivation tag was added to gene: DMD.
DDG2P v0.2 DMD Rebecca Foulger reviewed gene: DMD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 DMD Rebecca Foulger Added phenotypes DUCHENNE MUSCULAR DYSTROPHY 310200 for gene: DMD
Publications for gene DMD were changed from 8789442; 8361506; 9683584; 9170407 to 8301652; 1383546; 15643612; 1549596; 1307253; 10909857; 8499922; 7981590; 2071150; 1513469; 8817332; 12794683; 7951253; 1601417; 8401539; 1301174; 8364587; 8281150; 7881286; 12673664; 7581396; 17024373; 8199594; 8401582
DDG2P v0.1 DMD Rebecca Foulger Added phenotypes CARDIOMYOPATHY DILATED X-LINKED TYPE 3B 302045 for gene: DMD
Publications for gene DMD were changed from 8301652; 1632439; 1757094; 8401537; 7881286; 9410897; 12754707; 7951253; 12522557; 12632325; 8279470 to 8789442; 8361506; 9683584; 9170407
DDG2P v0.1 DMD Rebecca Foulger gene: DMD was added
gene: DMD was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: DMD were set to 8301652; 1632439; 1757094; 8401537; 7881286; 9410897; 12754707; 7951253; 12522557; 12632325; 8279470
Phenotypes for gene: DMD were set to BECKER MUSCULAR DYSTROPHY 300376