Activity
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9 actions
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| Duchenne or Becker muscular dystrophy v1.2 | DMD | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #310200 & #300376) and the OMIM records were last accessed on 17 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Duchenne or Becker muscular dystrophy v1.2 | DMD | Achchuthan Shanmugasundram Phenotypes for gene: DMD were changed from to Duchenne muscular dystrophy, OMIM:310200; Becker muscular dystrophy, OMIM:300376; Duchenne muscular dystrophy, MONDO:0010679; Becker muscular dystrophy, MONDO:0010311 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Duchenne or Becker muscular dystrophy v1.1 | Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Duchenne or Becker muscular dystrophy v1.0 | Achchuthan Shanmugasundram promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Duchenne or Becker muscular dystrophy v0.3 | Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Duchenne or Becker muscular dystrophy v0.2 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Duchenne or Becker muscular dystrophy v0.1 | DMD | Achchuthan Shanmugasundram reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Duchenne or Becker muscular dystrophy v0.1 | DMD |
Achchuthan Shanmugasundram gene: DMD was added gene: DMD was added to Duchenne or Becker muscular dystrophy. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: DMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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| Duchenne or Becker muscular dystrophy v0.0 |
Achchuthan Shanmugasundram Added Panel Duchenne or Becker muscular dystrophy Set list of related panels to R73 Set panel types to: GMS Rare Disease |
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