Activity

Filter

Cancel
Date Panel Item Activity
12 actions
Congenital myopathy v2.79 DMPK_CTG Eleanor Williams commented on STR: DMPK_CTG
Congenital myopathy v2.79 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Congenital myopathy v2.79 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Congenital myopathy v2.75 DMPK_CTG Arina Puzriakova Normal Number of Repeats for DMPK_CTG was changed from 38 to 35.
Source NHS GMS was added to STR: DMPK_CTG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Congenital myopathy v2.67 DMPK_CTG Arina Puzriakova Phenotypes for STR: DMPK_CTG were changed from Myotonic dystrophy 1 160900 to Myotonic dystrophy 1, OMIM:160900
Congenital myopathy v1.63 DMPK_CTG Arianna Tucci Marked STR: DMPK_CTG as ready
Congenital myopathy v1.63 DMPK_CTG Arianna Tucci Added comment: Comment when marking as ready: Marked as green following the discussion about feeding back STR results via Webexes on 6/09/2018
Congenital myopathy v1.63 DMPK_CTG Arianna Tucci Str: dmpk_ctg has been classified as Green List (High Evidence).
Congenital myopathy v1.63 DMPK_CTG Arianna Tucci Classified STR: DMPK_CTG as Green List (high evidence)
Congenital myopathy v1.63 DMPK_CTG Arianna Tucci Str: dmpk_ctg has been classified as Green List (High Evidence).
Congenital myopathy v1.62 DMPK_CTG Arianna Tucci Normal Number of Repeats for DMPK_CTG was changed from 34 to 38.
Congenital myopathy v1.61 DMPK_CTG Arianna Tucci reviewed STR: DMPK_CTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted