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Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 | NCKAP1L | Arina Puzriakova Tag for-review was removed from gene: NCKAP1L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.529 | NCKAP1L | Arina Puzriakova commented on gene: NCKAP1L: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.528 | NCKAP1L |
Arina Puzriakova Source Expert Review Green was added to NCKAP1L. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Primary immunodeficiency or monogenic inflammatory bowel disease v2.184 | NCKAP1L | Zornitza Stark edited their review of gene: NCKAP1L: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.183 | NCKAP1L | Arina Puzriakova Publications for gene: NCKAP1L were set to 32647003 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.182 | NCKAP1L | Arina Puzriakova Classified gene: NCKAP1L as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.182 | NCKAP1L | Arina Puzriakova Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review - at least six unrelated families with distinct variants in this gene presenting the relevant phenotype. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.182 | NCKAP1L | Arina Puzriakova Gene: nckap1l has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.181 | NCKAP1L | Arina Puzriakova Tag for-review tag was added to gene: NCKAP1L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.181 | NCKAP1L | Arina Puzriakova reviewed gene: NCKAP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 32647003, 32766723; Phenotypes: Immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Primary immunodeficiency or monogenic inflammatory bowel disease v2.175 | NCKAP1L |
Zornitza Stark gene: NCKAP1L was added gene: NCKAP1L was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: NCKAP1L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NCKAP1L were set to 32647003 Phenotypes for gene: NCKAP1L were set to Immunodeficiency; Immune dysregulation gene: NCKAP1L was marked as current diagnostic Added comment: 5 individuals from 4 families with recurrent bacterial and viral skin infections, severe respiratory tract infections leading to pneumonia and bronchiectasis. Functional studies of the 4 missense reported were performed. Sources: Literature |