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Severe Paediatric Disorders v1.180 CNBP Sarah Leigh Tag currently-ngs-unreportable was removed from gene: CNBP.
Severe Paediatric Disorders v1.180 CNBP_CCTG Sarah Leigh Tag NGS Not Validated was removed from STR: CNBP_CCTG.
Severe Paediatric Disorders v1.180 CNBP_CCTG Sarah Leigh Classified STR: CNBP_CCTG as Green List (high evidence)
Severe Paediatric Disorders v1.180 CNBP_CCTG Sarah Leigh Str: cnbp_cctg has been classified as Green List (High Evidence).
Severe Paediatric Disorders v1.179 CNBP_CCTG Sarah Leigh reviewed STR: CNBP_CCTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Severe Paediatric Disorders v1.179 CNBP_CCTG Sarah Leigh STR: CNBP_CCTG was added
STR: CNBP_CCTG was added to Severe Paediatric Disorders. Sources: Expert list,NHS GMS,Expert Review Red
STR, NGS Not Validated tags were added to STR: CNBP_CCTG.
Mode of inheritance for STR: CNBP_CCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: CNBP_CCTG were set to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266
Severe Paediatric Disorders v1.20 CNBP Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CNBP.
Tag currently-ngs-unreportable tag was added to gene: CNBP.
Severe Paediatric Disorders v1.20 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
Severe Paediatric Disorders v0.17 CNBP Louise Daugherty Mode of inheritance for gene CNBP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe Paediatric Disorders v0.12 CNBP Louise Daugherty reviewed gene: CNBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 CNBP Louise Daugherty Publications for gene CNBP were updated from to 30847515
Severe Paediatric Disorders v0.10 CNBP Louise Daugherty Added phenotypes Myotonic dystrophy 2, 602668 for gene: CNBP
Severe Paediatric Disorders v0.9 CNBP Louise Daugherty Added phenotypes Myotonic dystrophy 2, 602668 for gene: CNBP
Severe Paediatric Disorders v0.9 CNBP Louise Daugherty Added phenotypes Myotonic dystrophy 2, 602668 for gene: CNBP
Severe Paediatric Disorders v0.8 CNBP Louise Daugherty Added phenotypes Myotonic dystrophy 2, 602668 for gene: CNBP
Severe Paediatric Disorders v0.7 CNBP Louise Daugherty Source Next Generation Children Project was added to CNBP.
Severe Paediatric Disorders v0.5 CNBP Louise Daugherty Source Expert Review Green was added to CNBP.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 CNBP Louise Daugherty gene: CNBP was added
gene: CNBP was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: CNBP was set to