Activity

Filter

Cancel
Date Panel Item Activity
22 actions
Distal myopathies v6.3 CNBP_CCTG Achchuthan Shanmugasundram commented on STR: CNBP_CCTG: The repeated sequence of this STR has been updated from 'CAGG' to 'CCTG' to match the sequence on the coding strand of the gene. This update was made following NHS Genomic Medicine Service approval.
Distal myopathies v6.3 CNBP_CCTG Achchuthan Shanmugasundram Repeated Sequence for CNBP_CCTG was changed from CAGG to CCTG.
Distal myopathies v6.2 CNBP_CCTG Sarah Leigh changed review comment from: As STR: CNBP_CCTG has been reviewed and confirmed by the NHS Genomic Medicine Service, it can be rated as Green on this panel.; to: As STR: CNBP_CCTG has been reviewed and confirmed by the NHS Genomic Medicine Service, it can be rated as Green on this panel after the next available update.
Distal myopathies v5.2 CNBP_CCTG Achchuthan Shanmugasundram edited their review of STR: CNBP_CCTG: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Distal myopathies v5.2 CNBP_CCTG Achchuthan Shanmugasundram reviewed STR: CNBP_CCTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Distal myopathies v5.2 CNBP_CCTG Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from STR: CNBP_CCTG.
Distal myopathies v5.2 CNBP_CCTG Achchuthan Shanmugasundram Classified STR: CNBP_CCTG as Green List (high evidence)
Distal myopathies v5.2 CNBP_CCTG Achchuthan Shanmugasundram Str: cnbp_cctg has been classified as Green List (High Evidence).
Distal myopathies v3.17 CNBP_CCTG Sarah Leigh Classified STR: CNBP_CCTG as Amber List (moderate evidence)
Distal myopathies v3.17 CNBP_CCTG Sarah Leigh Str: cnbp_cctg has been classified as Amber List (Moderate Evidence).
Distal myopathies v3.16 CNBP_CCTG Sarah Leigh Deleted their comment
Distal myopathies v3.16 CNBP_CCTG Sarah Leigh Tag NGS Not Validated was removed from STR: CNBP_CCTG.
Tag Q1_24_promote_green tag was added to STR: CNBP_CCTG.
Distal myopathies v3.16 CNBP_CCTG Sarah Leigh commented on STR: CNBP_CCTG: As STR: CNBP_CCTG has been reviewed and confirmed by the NHS Genomic Medicine Service, it can be rated as Green on this panel.
Distal myopathies v3.16 CNBP_CCTG Sarah Leigh reviewed STR: CNBP_CCTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Distal myopathies v1.45 CNBP_CCTG Eleanor Williams commented on STR: CNBP_CCTG
Distal myopathies v1.42 CNBP_CCTG Arina Puzriakova Normal Number of Repeats for CNBP_CCTG was changed from 26 to 27.
Source Expert Review Red was added to STR: CNBP_CCTG.
Source NHS GMS was added to STR: CNBP_CCTG.
Distal myopathies v1.24 CNBP_CCTG Arina Puzriakova Phenotypes for STR: CNBP_CCTG were changed from Myotonic dystrophy 2 602668 to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266
Distal myopathies v1.11 CNBP_CCTG Louise Daugherty commented on STR: CNBP_CCTG
Distal myopathies v1.11 CNBP_CCTG Louise Daugherty Tag NGS Not Validated tag was added to STR: CNBP_CCTG.
Distal myopathies CNBP Ellen McDonagh commented on STR: CNBP_CCTG
Distal myopathies CNBP Ellen McDonagh edited their review of STR: CNBP_CCTG
Distal myopathies CNBP Ellen McDonagh edited their review of STR: CNBP_CCTG