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Skeletal Muscle Channelopathies v1.46 CNBP Sarah Leigh Tag currently-ngs-unreportable was removed from gene: CNBP.
Skeletal Muscle Channelopathies v1.46 CNBP_CCTG Sarah Leigh Classified STR: CNBP_CCTG as Green List (high evidence)
Skeletal Muscle Channelopathies v1.46 CNBP_CCTG Sarah Leigh Str: cnbp_cctg has been classified as Green List (High Evidence).
Skeletal Muscle Channelopathies v1.45 CNBP_CCTG Sarah Leigh Tag NGS Not Validated was removed from STR: CNBP_CCTG.
Skeletal Muscle Channelopathies v1.45 CNBP_CCTG Sarah Leigh reviewed STR: CNBP_CCTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal Muscle Channelopathies v1.45 CNBP_CCTG Eleanor Williams commented on STR: CNBP_CCTG
Skeletal Muscle Channelopathies 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.
Skeletal Muscle Channelopathies v1.39 CNBP Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Skeletal Muscle Channelopathies v1.39 CNBP Arina Puzriakova Mode of inheritance for gene: CNBP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Skeletal Muscle Channelopathies v1.24 CNBP Arina Puzriakova Mode of inheritance for gene: CNBP was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Skeletal Muscle Channelopathies v1.23 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
Skeletal Muscle Channelopathies v1.22 CNBP Arina Puzriakova Phenotypes for gene: CNBP were changed from Myotonia; MYOTONIC DYSTROPHY 2 (DM2) to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266
Skeletal Muscle Channelopathies v1.21 CNBP_CCTG Louise Daugherty commented on STR: CNBP_CCTG: As discussed in PanelApp team meeting a new tag "NGS Not Validated". This STR currently has not be validated within the Genomics England pipeline.
Skeletal Muscle Channelopathies v1.21 CNBP_CCTG Louise Daugherty Tag NGS Not Validated tag was added to STR: CNBP_CCTG.
Skeletal Muscle Channelopathies v1.11 CNBP_CCTG Louise Daugherty edited their review of STR: CNBP_CCTG: Changed rating: RED
Skeletal Muscle Channelopathies v1.11 CNBP_CCTG Louise Daugherty commented on STR: CNBP_CCTG
Skeletal Muscle Channelopathies CNBP Ellen McDonagh commented on STR: CNBP_CCTG
Skeletal Muscle Channelopathies CNBP Ellen McDonagh edited their review of STR: CNBP_CCTG
Skeletal Muscle Channelopathies CNBP Ellen McDonagh Added STR to panel
Skeletal Muscle Channelopathies CNBP Fowzan ALKURAYA reviewed CNBP
Skeletal Muscle Channelopathies CNBP Arianna Tucci marked CNBP as ready
Skeletal Muscle Channelopathies CNBP Arianna Tucci marked CNBP as ready
Skeletal Muscle Channelopathies CNBP Arianna Tucci commented on CNBP
Skeletal Muscle Channelopathies CNBP Arianna Tucci reviewed CNBP
Skeletal Muscle Channelopathies CNBP Alice Gardham classified CNBP as red
Skeletal Muscle Channelopathies CNBP Alice Gardham commented on CNBP