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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 |
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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. |
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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) |
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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 |