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Primary immunodeficiency or monogenic inflammatory bowel disease v4.162 CNBP Sarah Leigh Tag currently-ngs-unreportable was removed from gene: CNBP.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.485 CNBP Arina Puzriakova Added comment: Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanism
Primary immunodeficiency or monogenic inflammatory bowel disease v2.485 CNBP Arina Puzriakova Mode of inheritance for gene: CNBP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Other
Primary immunodeficiency or monogenic inflammatory bowel disease v2.379 CNBP Arina Puzriakova Phenotypes for gene: CNBP were changed from Steinert- myotonica dystrophia to Myotonic dystrophy 2, OMIM:602668; Myotonic dystrophy type 2, MONDO:0011266
Primary immunodeficiency or monogenic inflammatory bowel disease v2.378 CNBP Arina Puzriakova Tag nucleotide-repeat-expansion tag was added to gene: CNBP.
Tag currently-ngs-unreportable tag was added to gene: CNBP.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.378 CNBP Arina Puzriakova Classified gene: CNBP as Red List (low evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease v2.378 CNBP Arina Puzriakova Added comment: Comment on list classification: Hypogammaglobulinemia has been reported in some cases which is relevant to this panel. However, patients are more likely to be recognised for skeletal muscle features of the disease presentation. Furthermore, the review is relevant to the CCTG repeat expansion rather than small variants (i.e. LoF, missense, etc) in this gene and therefore maintaining the Red rating on this panel.
Primary immunodeficiency or monogenic inflammatory bowel disease v2.378 CNBP Arina Puzriakova Gene: cnbp has been classified as Red List (Low Evidence).
Primary immunodeficiency or monogenic inflammatory bowel disease v2.377 CNBP Arina Puzriakova Publications for gene: CNBP were set to
Primary immunodeficiency or monogenic inflammatory bowel disease v2.376 CNBP Arina Puzriakova Mode of inheritance for gene: CNBP was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.369 CNBP Boaz Palterer reviewed gene: CNBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 12601109; Phenotypes: myotonia, muscular dystrophy, cataracts, diabetes, testicular failure, hypogammaglobulinemia, cardiac conduction defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease v2.369 CNBP Boaz Palterer Deleted their review
Primary immunodeficiency or monogenic inflammatory bowel disease v2.369 CNBP Boaz Palterer reviewed gene: CNBP: Rating: GREEN; Mode of pathogenicity: None; Publications: 12601109/; Phenotypes: myotonia, muscular dystrophy, cataracts, diabetes, testicular failure, hypogammaglobulinemia, cardiac conduction defects.; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Primary immunodeficiency or monogenic inflammatory bowel disease CNBP Louise Daugherty marked gene: CNBP as ready
Primary immunodeficiency or monogenic inflammatory bowel disease CNBP Louise Daugherty commented on gene: CNBP
Primary immunodeficiency or monogenic inflammatory bowel disease CNBP Sophie Hambleton reviewed gene: CNBP
Primary immunodeficiency or monogenic inflammatory bowel disease CNBP Louise Daugherty reviewed CNBP
Primary immunodeficiency or monogenic inflammatory bowel disease CNBP Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease CNBP Louise Daugherty Added gene to panel