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Skeletal muscle channelopathy v3.6 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.
Skeletal muscle channelopathy v3.6 CNBP_CCTG Achchuthan Shanmugasundram Repeated Sequence for CNBP_CCTG was changed from CAGG to CCTG.
Skeletal muscle channelopathy v3.5 CNBP_CCTG Achchuthan Shanmugasundram commented on STR: CNBP_CCTG
Skeletal muscle channelopathy v3.5 CNBP_CCTG Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from STR: CNBP_CCTG.
Skeletal muscle channelopathy v3.5 CNBP_CCTG Sarah Leigh Classified STR: CNBP_CCTG as Amber List (moderate evidence)
Skeletal muscle channelopathy v3.5 CNBP_CCTG Sarah Leigh Str: cnbp_cctg has been classified as Amber List (Moderate Evidence).
Skeletal muscle channelopathy v3.4 CNBP Sarah Leigh Tag currently-ngs-unreportable was removed from gene: CNBP.
Skeletal muscle channelopathy v3.4 CNBP_CCTG Sarah Leigh Classified STR: CNBP_CCTG as Amber List (moderate evidence)
Skeletal muscle channelopathy v3.4 CNBP_CCTG Sarah Leigh Str: cnbp_cctg has been classified as Amber List (Moderate Evidence).
Skeletal muscle channelopathy v3.3 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.
Skeletal muscle channelopathy v3.3 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.
Skeletal muscle channelopathy v3.3 CNBP_CCTG Sarah Leigh reviewed STR: CNBP_CCTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Skeletal muscle channelopathy v2.2 CNBP_CCTG Arina Puzriakova Classified STR: CNBP_CCTG as Red List (low evidence)
Skeletal muscle channelopathy v2.2 CNBP_CCTG Arina Puzriakova Str: cnbp_cctg has been classified as Red List (Low Evidence).
Skeletal muscle channelopathy v2.1 CNBP_CCTG Arina Puzriakova Tag Q4_21_expert_review was removed from STR: CNBP_CCTG.
Tag Q4_21_rating was removed from STR: CNBP_CCTG.
Skeletal muscle channelopathy v2.1 CNBP_CCTG Arina Puzriakova edited their review of STR: CNBP_CCTG: Added comment: The rating of this STR has been updated to Red following NHS Genomic Medicine Service approval.; Changed rating: RED
Skeletal muscle channelopathy v1.39 CNBP_CCTG Eleanor Williams commented on STR: CNBP_CCTG: Added the tag of Q4_21_rating as this STR only had an expert review tag and would not be picked up for a GMS report with just that.
Skeletal muscle channelopathy v1.39 CNBP_CCTG Eleanor Williams Tag Q4_21_rating tag was added to STR: CNBP_CCTG.
Skeletal muscle channelopathy v1.39 CNBP_CCTG Eleanor Williams commented on STR: CNBP_CCTG
Skeletal muscle channelopathy v1.37 CNBP_CCTG Arina Puzriakova Normal Number of Repeats for CNBP_CCTG was changed from 26 to 27.
Source NHS GMS was added to STR: CNBP_CCTG.
Skeletal muscle channelopathy v1.33 CNBP_CCTG Arina Puzriakova commented on STR: CNBP_CCTG
Skeletal muscle channelopathy v1.33 CNBP_CCTG Arina Puzriakova Tag Q4_21_expert_review tag was added to STR: CNBP_CCTG.
Skeletal muscle channelopathy v1.33 CNBP Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Skeletal muscle channelopathy v1.33 CNBP Arina Puzriakova Mode of inheritance for gene: CNBP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Other
Skeletal muscle channelopathy v1.6 CNBP Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CNBP.
Tag currently-ngs-unreportable tag was added to gene: CNBP.
Skeletal muscle channelopathy v1.6 CNBP_CCTG Arina Puzriakova Tag STR tag was added to STR: CNBP_CCTG.
Skeletal muscle channelopathy v1.6 CNBP_CCTG Arina Puzriakova Phenotypes for STR: CNBP_CCTG were changed from Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266 to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266
Skeletal muscle channelopathy v1.6 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 channelopathy v1.5 CNBP Arina Puzriakova Phenotypes for gene: CNBP were changed from Myotonic dystrophy 2, 602668 to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266
Skeletal muscle channelopathy v0.26 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 channelopathy v0.26 CNBP_CCTG Louise Daugherty Tag NGS Not Validated tag was added to STR: CNBP_CCTG.
Skeletal muscle channelopathy v0.23 CNBP_CCTG Louise Daugherty Classified STR: CNBP_CCTG as Green List (high evidence)
Skeletal muscle channelopathy v0.23 CNBP_CCTG Louise Daugherty Str: cnbp_cctg has been classified as Green List (High Evidence).
Skeletal muscle channelopathy v0.22 CNBP_CCTG Louise Daugherty STR: CNBP_CCTG was added
STR: CNBP_CCTG was added to Myotonia congenita. Sources: Expert list
Mode of inheritance for STR: CNBP_CCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: CNBP_CCTG were set to 18807109
Phenotypes for STR: CNBP_CCTG were set to Myotonic dystrophy 2, 602668
Review for STR: CNBP_CCTG was set to GREEN
Added comment: STR added as part of the GMS. This STR is tested routinely using PCR-based methods in the NHS.
Sources: Expert list
Skeletal muscle channelopathy v0.21 CNBP Louise Daugherty Classified gene: CNBP as Red List (low evidence)
Skeletal muscle channelopathy v0.21 CNBP Louise Daugherty Added comment: Comment on list classification: demoted to Red, this review is for the STR entity and not the gene entity.
Skeletal muscle channelopathy v0.21 CNBP Louise Daugherty Gene: cnbp has been classified as Red List (Low Evidence).
Skeletal muscle channelopathy v0.17 CNBP Louise Daugherty Publications for gene CNBP were changed from to 18807109
Skeletal muscle channelopathy v0.16 CNBP Louise Daugherty Source NHS GMS was added to CNBP.
Skeletal muscle channelopathy v0.15 CNBP James Polke reviewed gene: CNBP: Rating: GREEN; Mode of pathogenicity: ; Publications: Suominen et al 2008 J Neurol 255, 1731-6 PMID: 18807109; Phenotypes: Myotonic dystrophy 2, 602668; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal muscle channelopathy v0.14 CNBP Louise Daugherty Mode of inheritance for gene CNBP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Myotonic dystrophy 2, 602668 for gene: CNBP
Skeletal muscle channelopathy v0.13 CNBP Louise Daugherty Source Expert Review Green was added to CNBP.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Skeletal muscle channelopathy v0.12 CNBP Louise Daugherty gene: CNBP was added
gene: CNBP was added to Myotonia congenita. Sources: London North GLH
Mode of inheritance for gene: CNBP was set to