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| 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 Entity copied from Skeletal Muscle Channelopathies v1.45 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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